Papers by Dr. Mohd Fareed
Frontiers in Genetics, 2021
Non-syndromic hearing loss (NSHL) is one of the most frequent auditory deficits in humans charact... more Non-syndromic hearing loss (NSHL) is one of the most frequent auditory deficits in humans characterized by high clinical and genetic heterogeneity. Very few studies have reported the relationship between OTOF (Locus: DFNB9) and hereditary hearing loss in India. We aimed to decipher the genetic cause of prelingual NSHL in a large affected Muslim consanguineous families using whole-exome sequencing (WES). The study was performed following the guidelines and regulations of the Indian Council of Medical Research (ICMR), New Delhi. The population was identified from Jammu and Kashmir, the Northernmost part of India. Near about 100 individuals were born deaf-mute in the village of 3,000 inhabitants. A total of 103 individuals (with 52 cases and 51 controls) agreed to participate in this study. Our study revealed a rare non-sense homozygous mutation NC_000002.11:g.2:26702224G>A; NM_001287489.2:c.2122C>T; NP_001274418.1:p.(Arg708∗) in the 18th exon of the OTOF gene. Our study provides...
Scientific Reports, 2021
Nephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in t... more Nephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. Here, we used the whole-exome sequencing (WES) technology to decipher the genetic cause of nephrotic syndrome (CKD stage-V) in a large affected consanguineous family. Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP_079152.3:p.(Asp250Asn) in the 9th exon of the COQ8B gene, co-segregated well with the disease phenotype. Our study provides the first insight into this homozygous condition, which has not been previously reported in 1000Genome, ClinVar, ExAC, and genomAD databases. In addition to the pathogenic COQ8B variant, the WES data also revealed some novel and recurrent mutations in the GLA, NUP107, COQ2, COQ6, COQ7 and COQ9 genes. The novel variants observed in this study ...
Context: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is t... more Context: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ethnicity, religion, culture and geography. Global epidemiological studies have revealed that consanguineous unions have been significantly associated with increased susceptibility to various forms of inherited diseases. Objective: The study aimed to determine the role of consanguinity in human health and to highlight the associated risks for various diseases or disorders. Methods: PubMed and Google Scholar search engines were used to explore the published literature on consanguinity and its associated risks using the key words " consanguinity " , " prevalence " , " inbreeding depression " , " coefficient of inbreeding " , " child health " , " mortality " , " human health " , " homozygosity " and " complex diseases " in different combinations. The studies were screened for eligibility on the basis of their epidemiological relevance. Results: This comprehensive assessment highlights the deleterious consequences in populations with a higher prevalence of consanguinity among different countries worldwide. Conclusions: To avoid the inbreeding load there is the need to improve socioeconomic and educational status and to increase public awareness of reproductive health and anticipated deleterious effects. Premarital and pre-conception counselling of consanguineous populations should be an integral part of health policy to train people and make people aware of its harmful consequences. Furthermore, runs of homozygosity (ROH) and whole-exome sequencing (WES) are useful tools in exploring new genomic signatures for the cause of inbreeding depression.
Background: The aim of our study was to understand the relationship between consanguineous marria... more Background: The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. Methods: A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F). Fertility, mortality, secondary sex ratio, selection intensity, and lethal equivalents were measured using standard methods. results: The significant differences for gross fertility was found to be higher among inbred groups as compared to the unrelated families (P < 0.05) and higher mortality rates were observed among consanguineous families of all populations in comparison with the non-consanguineous family groups. Moreover, the prenatal and postnatal child mortality rates (i.e., U5MR and U18MR) have presented a persuasive increase with an upsurge in the homozygosity level. The mortality rate was found to be maximum among families with the highest value of coefficient of inbreeding (F). The selection intensity (SI) also showed inflations among families with respect to their increasing inbreeding coefficients. The greater values of lethal equivalents per gamete (LEs/gamete) were observed for autosomal inheritance in comparison with sex-linked inheritance. conclusion: Our conclusive assessment brings out the del-eterious consequence of consanguineous marriages on reproductive outcomes.
Original article, Mar 24, 2016
Purpose: Cardiovascular diseases are the leading cause of mortality and morbidity among humans wo... more Purpose: Cardiovascular diseases are the leading cause of mortality and morbidity among humans worldwide. We aimed to estimate the effect of familial inbreeding on cardiovascular risks. Methods: The study was conducted during April 2014 through June 2014, and a total of 587 adolescent subjects (male ¼ 270, female ¼ 317; 11À18 years of age) were recruited from five Muslim populations viz., Gujjar and Bakarwal (n ¼ 130), Mughal (n ¼ 111), Malik (n ¼ 114), Syed (n ¼ 108), and Khan (n ¼ 124). Wright's path relationship method was used for calculating the coefficient of inbreeding (F). Anthropometric and physiological parameters were estimated using standard methods. Results: We observed higher mean values for major physiological traits among the inbred subjects in comparison with the non-inbred groups of five different populations. Our study suggests that inbreeding and sex are the key factors affecting cardiovascular profile. Multivariate analysis of covariance revealed inbreeding as a major source of variation for cardiovascular risks, dominating over other factors causing greater variability in the physiological traits. The magnitude of cardiovascular risks shows an increase with the increase in the values of coefficient of inbreeding (i.e., from F ¼ 0.00 to F ¼ 0.125). The abnormal levels of systolic blood pressure (SBP; range 140e159 mm Hg) and fasting blood glucose (FBG; range 101e126 mg per dL) show persuasive increase with an upsurge in the homozygosity level (i.e., coefficient of inbreeding). Conclusions: Our comprehensive assessment presents the deleterious consequence of inbreeding on cardiovascular profile. This study can be used as fact-sheet for framing the heath policies and hence can play a vital role in genetic counseling strategies for transforming the public opinion regarding the practice of consanguinity and its associated risks.
Research Article, Feb 25, 2015
X-linked redegreen color blindness is the most widespread form of vision impairment. The study ai... more X-linked redegreen color blindness is the most widespread form of vision impairment. The study aimed to determine the prevalence and gene frequencies of redegreen color vision impairments among children of six different human populations of Jammu province. A total of 1028 healthy subjects (6e15 years of age) were selected from five Muslim populations
and the color vision impairments were determined using the Ishihara’s test of color deficiency. The gene frequency was calculated using HardyeWeinberg equilibrium method. The prevalence of color vision deficiency (CVD) ranged from 5.26% to 11.36% among males and 0.00%-3.03% among females of six different populations. The gender based differences in the frequency of CVD was found to be statistically significant (p < 0.0001), with a higher prevalence among male (7.52%) as compared to female (0.83%) children. We observed high frequency of deutan as compared to protan defects. The incidences of deuteranomaly (5.68%) and deuteranopia
(2.27%) were higher among male children of Syed population while the frequencies of protanomaly (1.94%), protanopia (1.28%) and achromacy (2.27%) were the highest among male
subjects of Khan, Malik and Syed populations, respectively. The allele and genotype frequencies showed cogent differences among six populations. The population based assessment
of CVDs help patients to follow adaptive strategies that could minimize the risks of the disease.
Research Article, Oct 14, 2014
Background: Cognitive ability tests are widely assumed to measure maximal intellectual performanc... more Background: Cognitive ability tests are widely assumed to measure maximal intellectual performance and predictive
associations between intelligence quotient (IQ) scores and later mental health problems. Very few epidemiologic studies
have been done to demonstrate the relationship between familial inbreeding and modest cognitive impairments in
children.
Objective: We aimed to estimate the effect of inbreeding on children’s cognitive behavior in comparison with non-inbred
children.
Methodology: A cohort of 408 children (6 to 15 years of age) was selected from inbred and non-inbred families of five
Muslim populations of Jammu region. The Wechsler Intelligence Scales for Children (WISC) was used to measure the verbal
IQ (VIQ), performance IQ (PIQ) and full scale IQ (FSIQ). Family pedigrees were drawn to access the family history and
children’s inbred status in terms of coefficient of inbreeding (F).
Results: We found significant decline in child cognitive abilities due to inbreeding and high frequency of mental retardation
among offspring from inbred families. The mean differences (95% C.I.) were reported for the VIQ, being -22.00 (-24.82,
-19.17), PIQ -26.92 (-29.96, -23.87) and FSIQ -24.47 (-27.35, -21.59) for inbred as compared to non-inbred children
(p<0.001). The higher risk of being mentally retarded was found to be more obvious among inbred categories
corresponding to the degree of inbreeding and the same accounts least for non-inbred children (p<0.0001). We observed
an increase in the difference in mean values for VIQ, PIQ and FSIQ with the increase of inbreeding coefficient and these were
found to be statistically significant (p<0.05). The regression analysis showed a fitness decline (depression) for VIQ
(R2 = 0.436), PIQ (R2 = 0.468) and FSIQ (R2 = 0.464) with increasing inbreeding coefficients (p<0.01).
Conclusions: Our comprehensive assessment provides the evidence for inbreeding depression on cognitive abilities among
children.
Objective: The study was aimed to estimate the effect of inbreeding on height, weight, and body m... more Objective: The study was aimed to estimate the effect of inbreeding on height, weight, and body mass index (BMI)
in comparison with non-inbred children.
Methods: A cohort study was conducted during April 2013 through July 2013 in Jammu (North India) and a total of
1,270 children (5–15 years of age) were selected in a random way both from inbred and non-inbred families of five Muslim
populations. The height and weight was measured using standard methods and the BMI categories were employed
as adapted by World Health Organization (WHO). Family pedigrees were drawn to access the family history and children’s
inbred status in terms of coefficient of inbreeding (F).
Results: Children of inbred families showed decline in mean value for height, weight, and BMI (P < 0.0001). The
mean difference (95% confidence interval) in height 27.318 (5.827–8.809), weight 26.590 (5.100–8.081) and BMI
22.133 (0.6419–3.624) for inbred as compared with non-inbred children were found to be significant (P < 0.001). We
observed an increase in the difference in mean values for height, weight and BMI with the increase of inbreeding coefficient
and these were statistically significant (P < 0.05, using post hoc tests). The frequency of underweight children
was found to be higher among individuals in the inbred category (<18.5 kg/m2 5 47.31%) as compared with the noninbred
category (<18.5 kg/m2 5 13.41%) and subsequent depression was found among the inbred children due to an
increase of inbreeding coefficient.
Conclusions: Our results provide the evidence of inbreeding depression on height, weight, and BMI being important
in context of child health.
Genome-wide patterns of variation across individuals provide most powerful source of data for unc... more Genome-wide patterns of variation across individuals provide most powerful source of data for uncovering the history of migration, expansion, and adaptation of the human population. The arrival of new technologies that type more than millions of the single nucleotide polymorphisms (SNPs) in a single experiment has made SNP in genome-wide association (GWA) assay a prudent venture. SNPs represent the most widespread type of sequence variation in genomes, and known as valuable genetic markers for revealing the evolutionary history and common genetic polymorphisms that explain the heritable risk for common diseases. Characterizing the nature of gene variation in human populations and assembling an extensive catalog of SNPs in candidate genes in association with particular diseases are the major goals of human genetics. In this article we explore the recent discovery of SNP–GWA to revolutionize not only the process of genetic variation and disease detection but also the convention of preventative and curative medicine for future prospects.
A study was undertaken to record gene frequencies of ABO blood groups, their subtypes and Rh anti... more A study was undertaken to record gene frequencies of ABO blood groups, their subtypes and Rh antigen for six different endogamous groups including a tribal population. The ABO phenotypic frequency varies among six different populations showing significant difference (p < 0.0005). Gujjar and Bakarwal (a tribal population) shows highest (42.29%) of B blood phenotypes. A1 is the highest among Syeds (39.31%), O blood group frequency highest among Mughals (43.23%) and A1B and A2B are rare phenotypes showing very low frequency among all populations. The pattern of allele frequencies (p < 0.025) is in order of IO > IB > IA1 > IA2, except Syeds (IO > IA1 > IB > IA2). The rhesus protein (Rh) phenotypic frequency (p < 0.01) shows significant increase in Rh(D) positive (87.86% in Syed to 96.03% in Khan) among all populations. The Rh allele (p < 0.05) and genotype (p < 0.02) frequencies shows a significant difference. Heterozygosity for Rh protein is less than homozygosity among six populations. The result from this study provides information on the genetic variation in blood antigens and rhesus protein among human populations inhabiting Jammu and Kashmir.
Research Article
Background
The ability to taste phenylthiocarbamide (PTC), a bitter chemical has long been known... more Background
The ability to taste phenylthiocarbamide (PTC), a bitter chemical has long been known to be a bimodal autosomal trait inherited in a simple Mendelian recessive pattern which is being widely used for both genetic and anthropological studies. The frequency of taster and non-taster allele is found to vary in different populations. The present paper deals with the distribution of PTC tasting ability as a marker to study the genetic structure among Muslim populations of Jammu; as no detailed information is available.
Aim
To investigate the prevalence and gene frequencies of PTC taste sensitivity among male and females.
Subjects and methods
We have undertaken a survey of gene frequencies of PTC taste ability for six different endogamous groups including tribal population. PTC serial dilution method was used to assess the PTC taster and non-taster phenotypes. Hardy–Weinberg method was used to determine allele frequencies.
Results
Gujjar and Bakarwal population showed highest PTC threshold while Syed had the least. The phenotypic frequency for PTC taste ability varies within six populations; Syed were observed with highest taster frequency while Gujjar and Bakarwal had lowest taster frequency. The taster frequency of six different populations showed that the percentage of taster frequency was more frequent than that of the non-tasters. Also, females (χ2 = 4.563, df = 5, p = 0.471) had more PTC tasters than males (χ2 = 5.254, df = 5, p = 0.385). The allelic frequencies in Gujjar and Bakarwal for non-taster (t) males and females were 55.86 and 54.55, respectively. In Syed population, t-allele frequencies for males and females were 45.75 and 37.79, respectively, while the other four populations showed intermediate t-allele frequencies. The heterozygosity showed little variation among all of the six populations.
Micronuclei (MN) have been proposed as good biomarker to assess cytogenetic damage in biomonitori... more Micronuclei (MN) have been proposed as good biomarker to assess cytogenetic damage in biomonitoring studies. The analysis of MN in the epithelial cells has been shown to be a sensitive method for monitoring genetic damage in human populations. MN formation has been observed in pre-cancerous lesions of the oral cavity of pan masala and gutkha chewers. Increased cytogenetic damage has been observed in peripheral blood lymphocytes and exfoliated buccal mucosal cells of pan masala chewers. MN frequency obtained in case of pan masala/ gutkha chewers is very high as compared to control, which clearly indicates that chewers are at high risk for developing oral cancer.
The time dependent effect of orally administered KBrO 3 on redox status and enzymes of brush bord... more The time dependent effect of orally administered KBrO 3 on redox status and enzymes of brush border membrane (BBM) and carbohydrate metabolism has been studied in rat kidney. Animals were given a single oral dose of KBrO 3 (100 mg/kg body weight) and sacrificed at different times after this treatment; control animals were not given KBrO 3 . The administration of KBrO 3 resulted in nephrotoxicity, a decline in the specific activities of several BBM marker enzymes and also induced oxidative stress in kidney. The specific activities of enzymes of carbohydrate metabolism were also altered and suggest a shift in energy metabolism from the aerobic to anaerobic mode. The renal effects of single oral dose of KBrO 3 appeared to be reversible; maximum changes in all the parameters were 48 h after administration of KBrO 3 after which recovery took place, in many cases almost to control values, after 168 h. These results suggest that the administration of a single nephrotoxic dose of KBrO 3 inhibits brush border membrane enzymes, induces oxidative stress and alters energy metabolism of the renal system in a reversible manner.
Background:Color blindness is a common X-linked genetic disorder. However, most of color blinds r... more Background:Color blindness is a common X-linked genetic disorder. However, most of color blinds remain undetected due to absence of proper screening. Our study was to determine the prevalence of red-green color vision defects among Manipuri Muslim males and females. The study could help in decreasing birth of children with this disorder as Muslims commonly perform consanguineous marriage among themselves.Methods:Unrelated individuals of both sexes (Male-1352, Female-1302) belonging to six different populations were randomly selected and screened for red-green color vision defects using the Ishihara (pseudo-isochromatic plates) test from the area of Imphal East and Imphal west districts of Manipur, which is a small hilly state, situated in the north eastern extreme corner of India sharing an international boundary with Myanmar (Burma).Results:About 8.73% of males and 1.69% of females were found to be color blind. Among six different populations studied the males of Meitei population shows the highest frequency i.e. 14.93% while Naga population shows the least frequency of 3.75%. Among females, Meitei population again shows the highest frequency of 2.5% and least frequency is shown by Mughal and Naga populations 0.00% as not a single female color blind was found.Conclusion:Present study shows higher prevalence rate of color blindness as compared to other reported rates of India. Deuteranomaly cases occur in higher percentage than other types of color blindness. The higher prevalence rate observed in Muslims may be due to the hidden effect of consanguineous marriages.
Background: Sickle cell anaemia is an important genetic and public health problem in Manipur, whi... more Background: Sickle cell anaemia is an important genetic and public health problem in Manipur, which is a small hilly state, situated at the north eastern extreme corner of India sharing an international boundary with Myanmar. Our present study provides a comprehensive database on the occurrence of sickle cell trait in the Manipuri population especially with regard to Manipuri Muslims, as till date no work has been done on Manipuri Muslims with different castes.
Background: Research on ABO group system has been of immense interest, due to its medical importa... more Background: Research on ABO group system has been of immense interest, due to its medical importance in different diseases. Till date only a few studies have been done on the prevalence and gene frequencies of A 1 A 2 BO and Rh(D) blood groups among the Muslim populations of Uttar Pradesh, North India. The data generated in the present work may be useful for health planners while making efforts to face the future health challenges in the region.
In the present paper phylogenetic relationships of Muslim populations of Manipur and its genetic ... more In the present paper phylogenetic relationships of Muslim populations of Manipur and its genetic relations with Meitei and Naga tribe based on the morphogenetic traits have been attempted. Till date, no biological research has been reported regarding their phylogeny. Muslims with different castes shows differences in the distribution of these morpho-genetic traits, showing differences of ancestor’s origin. On the basis of genetic distances, dendrogram was constructed using UPGMA Clustering method. Sheikh, Syed, Pathan and Moghul settled in Manipur approximately the same time on the basis of their origin. Sheikh and Syed form one common cluster while Moghul and Pathan show another common cluster, reflecting its genetic similarity. Meitei population stand closer to Muslim population than to Naga tribe showing close conformity with the literature reported where Muslims were reported to have arrived in Manipur mostly as sepoys of the king and without female counterpart, and were given permission by the then king to get married with the Meitei women. Meiteis and Nagas belong to the Mongoloid racial stock or are at least more or less genetically influenced by it, can also been seen as they show the presence of morpho-genetic trait characters characteristics to Japanese, Chinese and Tibetans.
Indian population is well known for its genetic diversity, ethnicity and microdifferentiation pro... more Indian population is well known for its genetic diversity, ethnicity and microdifferentiation process. The present work deals with the distribution of A1A2BO, Rh (D), PTC tasting ability and Red green Colorblindness to study the genetic structure, fitness and microdifferentiation process among different Muslim populations of North India. We have undertaken a survey of the gene frequencies of the four markers in six endogamous groups: Syed, Sheikh, Pathan, Ansari, Qureshi and Saifi. For A1A2BO only, the Syed and Ansari showed significant differences while other combinations showed nonsignificant values. All the populations showed nonsignificant differences for the PTC marker except Pathans of which interpopulational differences were seen. Pooled heterozygosity was highest for A1A2BO being 0.6899 and lowest for Colorblindness, 0.0727. The average of the DST and GST values for the four markers were found to be 0.00698 and 0.0176, respectively. A dendrogram was constructed using the UPGMA and NJ clustering method. It shows that Syed and Sheikh are the more recent populations, followed by Pathan, then Ansari and the oldest ones are Qureshi. The results of the genetic distance analysis can throw some light on origin, migration and genetic relationship among different endogamous groups of Muslim Populations.
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Papers by Dr. Mohd Fareed
and the color vision impairments were determined using the Ishihara’s test of color deficiency. The gene frequency was calculated using HardyeWeinberg equilibrium method. The prevalence of color vision deficiency (CVD) ranged from 5.26% to 11.36% among males and 0.00%-3.03% among females of six different populations. The gender based differences in the frequency of CVD was found to be statistically significant (p < 0.0001), with a higher prevalence among male (7.52%) as compared to female (0.83%) children. We observed high frequency of deutan as compared to protan defects. The incidences of deuteranomaly (5.68%) and deuteranopia
(2.27%) were higher among male children of Syed population while the frequencies of protanomaly (1.94%), protanopia (1.28%) and achromacy (2.27%) were the highest among male
subjects of Khan, Malik and Syed populations, respectively. The allele and genotype frequencies showed cogent differences among six populations. The population based assessment
of CVDs help patients to follow adaptive strategies that could minimize the risks of the disease.
associations between intelligence quotient (IQ) scores and later mental health problems. Very few epidemiologic studies
have been done to demonstrate the relationship between familial inbreeding and modest cognitive impairments in
children.
Objective: We aimed to estimate the effect of inbreeding on children’s cognitive behavior in comparison with non-inbred
children.
Methodology: A cohort of 408 children (6 to 15 years of age) was selected from inbred and non-inbred families of five
Muslim populations of Jammu region. The Wechsler Intelligence Scales for Children (WISC) was used to measure the verbal
IQ (VIQ), performance IQ (PIQ) and full scale IQ (FSIQ). Family pedigrees were drawn to access the family history and
children’s inbred status in terms of coefficient of inbreeding (F).
Results: We found significant decline in child cognitive abilities due to inbreeding and high frequency of mental retardation
among offspring from inbred families. The mean differences (95% C.I.) were reported for the VIQ, being -22.00 (-24.82,
-19.17), PIQ -26.92 (-29.96, -23.87) and FSIQ -24.47 (-27.35, -21.59) for inbred as compared to non-inbred children
(p<0.001). The higher risk of being mentally retarded was found to be more obvious among inbred categories
corresponding to the degree of inbreeding and the same accounts least for non-inbred children (p<0.0001). We observed
an increase in the difference in mean values for VIQ, PIQ and FSIQ with the increase of inbreeding coefficient and these were
found to be statistically significant (p<0.05). The regression analysis showed a fitness decline (depression) for VIQ
(R2 = 0.436), PIQ (R2 = 0.468) and FSIQ (R2 = 0.464) with increasing inbreeding coefficients (p<0.01).
Conclusions: Our comprehensive assessment provides the evidence for inbreeding depression on cognitive abilities among
children.
in comparison with non-inbred children.
Methods: A cohort study was conducted during April 2013 through July 2013 in Jammu (North India) and a total of
1,270 children (5–15 years of age) were selected in a random way both from inbred and non-inbred families of five Muslim
populations. The height and weight was measured using standard methods and the BMI categories were employed
as adapted by World Health Organization (WHO). Family pedigrees were drawn to access the family history and children’s
inbred status in terms of coefficient of inbreeding (F).
Results: Children of inbred families showed decline in mean value for height, weight, and BMI (P < 0.0001). The
mean difference (95% confidence interval) in height 27.318 (5.827–8.809), weight 26.590 (5.100–8.081) and BMI
22.133 (0.6419–3.624) for inbred as compared with non-inbred children were found to be significant (P < 0.001). We
observed an increase in the difference in mean values for height, weight and BMI with the increase of inbreeding coefficient
and these were statistically significant (P < 0.05, using post hoc tests). The frequency of underweight children
was found to be higher among individuals in the inbred category (<18.5 kg/m2 5 47.31%) as compared with the noninbred
category (<18.5 kg/m2 5 13.41%) and subsequent depression was found among the inbred children due to an
increase of inbreeding coefficient.
Conclusions: Our results provide the evidence of inbreeding depression on height, weight, and BMI being important
in context of child health.
The ability to taste phenylthiocarbamide (PTC), a bitter chemical has long been known to be a bimodal autosomal trait inherited in a simple Mendelian recessive pattern which is being widely used for both genetic and anthropological studies. The frequency of taster and non-taster allele is found to vary in different populations. The present paper deals with the distribution of PTC tasting ability as a marker to study the genetic structure among Muslim populations of Jammu; as no detailed information is available.
Aim
To investigate the prevalence and gene frequencies of PTC taste sensitivity among male and females.
Subjects and methods
We have undertaken a survey of gene frequencies of PTC taste ability for six different endogamous groups including tribal population. PTC serial dilution method was used to assess the PTC taster and non-taster phenotypes. Hardy–Weinberg method was used to determine allele frequencies.
Results
Gujjar and Bakarwal population showed highest PTC threshold while Syed had the least. The phenotypic frequency for PTC taste ability varies within six populations; Syed were observed with highest taster frequency while Gujjar and Bakarwal had lowest taster frequency. The taster frequency of six different populations showed that the percentage of taster frequency was more frequent than that of the non-tasters. Also, females (χ2 = 4.563, df = 5, p = 0.471) had more PTC tasters than males (χ2 = 5.254, df = 5, p = 0.385). The allelic frequencies in Gujjar and Bakarwal for non-taster (t) males and females were 55.86 and 54.55, respectively. In Syed population, t-allele frequencies for males and females were 45.75 and 37.79, respectively, while the other four populations showed intermediate t-allele frequencies. The heterozygosity showed little variation among all of the six populations.
and the color vision impairments were determined using the Ishihara’s test of color deficiency. The gene frequency was calculated using HardyeWeinberg equilibrium method. The prevalence of color vision deficiency (CVD) ranged from 5.26% to 11.36% among males and 0.00%-3.03% among females of six different populations. The gender based differences in the frequency of CVD was found to be statistically significant (p < 0.0001), with a higher prevalence among male (7.52%) as compared to female (0.83%) children. We observed high frequency of deutan as compared to protan defects. The incidences of deuteranomaly (5.68%) and deuteranopia
(2.27%) were higher among male children of Syed population while the frequencies of protanomaly (1.94%), protanopia (1.28%) and achromacy (2.27%) were the highest among male
subjects of Khan, Malik and Syed populations, respectively. The allele and genotype frequencies showed cogent differences among six populations. The population based assessment
of CVDs help patients to follow adaptive strategies that could minimize the risks of the disease.
associations between intelligence quotient (IQ) scores and later mental health problems. Very few epidemiologic studies
have been done to demonstrate the relationship between familial inbreeding and modest cognitive impairments in
children.
Objective: We aimed to estimate the effect of inbreeding on children’s cognitive behavior in comparison with non-inbred
children.
Methodology: A cohort of 408 children (6 to 15 years of age) was selected from inbred and non-inbred families of five
Muslim populations of Jammu region. The Wechsler Intelligence Scales for Children (WISC) was used to measure the verbal
IQ (VIQ), performance IQ (PIQ) and full scale IQ (FSIQ). Family pedigrees were drawn to access the family history and
children’s inbred status in terms of coefficient of inbreeding (F).
Results: We found significant decline in child cognitive abilities due to inbreeding and high frequency of mental retardation
among offspring from inbred families. The mean differences (95% C.I.) were reported for the VIQ, being -22.00 (-24.82,
-19.17), PIQ -26.92 (-29.96, -23.87) and FSIQ -24.47 (-27.35, -21.59) for inbred as compared to non-inbred children
(p<0.001). The higher risk of being mentally retarded was found to be more obvious among inbred categories
corresponding to the degree of inbreeding and the same accounts least for non-inbred children (p<0.0001). We observed
an increase in the difference in mean values for VIQ, PIQ and FSIQ with the increase of inbreeding coefficient and these were
found to be statistically significant (p<0.05). The regression analysis showed a fitness decline (depression) for VIQ
(R2 = 0.436), PIQ (R2 = 0.468) and FSIQ (R2 = 0.464) with increasing inbreeding coefficients (p<0.01).
Conclusions: Our comprehensive assessment provides the evidence for inbreeding depression on cognitive abilities among
children.
in comparison with non-inbred children.
Methods: A cohort study was conducted during April 2013 through July 2013 in Jammu (North India) and a total of
1,270 children (5–15 years of age) were selected in a random way both from inbred and non-inbred families of five Muslim
populations. The height and weight was measured using standard methods and the BMI categories were employed
as adapted by World Health Organization (WHO). Family pedigrees were drawn to access the family history and children’s
inbred status in terms of coefficient of inbreeding (F).
Results: Children of inbred families showed decline in mean value for height, weight, and BMI (P < 0.0001). The
mean difference (95% confidence interval) in height 27.318 (5.827–8.809), weight 26.590 (5.100–8.081) and BMI
22.133 (0.6419–3.624) for inbred as compared with non-inbred children were found to be significant (P < 0.001). We
observed an increase in the difference in mean values for height, weight and BMI with the increase of inbreeding coefficient
and these were statistically significant (P < 0.05, using post hoc tests). The frequency of underweight children
was found to be higher among individuals in the inbred category (<18.5 kg/m2 5 47.31%) as compared with the noninbred
category (<18.5 kg/m2 5 13.41%) and subsequent depression was found among the inbred children due to an
increase of inbreeding coefficient.
Conclusions: Our results provide the evidence of inbreeding depression on height, weight, and BMI being important
in context of child health.
The ability to taste phenylthiocarbamide (PTC), a bitter chemical has long been known to be a bimodal autosomal trait inherited in a simple Mendelian recessive pattern which is being widely used for both genetic and anthropological studies. The frequency of taster and non-taster allele is found to vary in different populations. The present paper deals with the distribution of PTC tasting ability as a marker to study the genetic structure among Muslim populations of Jammu; as no detailed information is available.
Aim
To investigate the prevalence and gene frequencies of PTC taste sensitivity among male and females.
Subjects and methods
We have undertaken a survey of gene frequencies of PTC taste ability for six different endogamous groups including tribal population. PTC serial dilution method was used to assess the PTC taster and non-taster phenotypes. Hardy–Weinberg method was used to determine allele frequencies.
Results
Gujjar and Bakarwal population showed highest PTC threshold while Syed had the least. The phenotypic frequency for PTC taste ability varies within six populations; Syed were observed with highest taster frequency while Gujjar and Bakarwal had lowest taster frequency. The taster frequency of six different populations showed that the percentage of taster frequency was more frequent than that of the non-tasters. Also, females (χ2 = 4.563, df = 5, p = 0.471) had more PTC tasters than males (χ2 = 5.254, df = 5, p = 0.385). The allelic frequencies in Gujjar and Bakarwal for non-taster (t) males and females were 55.86 and 54.55, respectively. In Syed population, t-allele frequencies for males and females were 45.75 and 37.79, respectively, while the other four populations showed intermediate t-allele frequencies. The heterozygosity showed little variation among all of the six populations.