Papers by Ajit Gorakshakar
American Journal of Otolaryngology, 1993
INTERNATIONAL JOURNAL OF HUMAN GENETICS, 2003
The frequency of Y chromosome microdeletions was studied on idiopathic infertile males with norma... more The frequency of Y chromosome microdeletions was studied on idiopathic infertile males with normal karyotype. Genomic DNA was isolated from peripheral blood and PCR analysis was carried out with STS markers-SY 158 and SY 254 to detect the AZFc mutations. Out of 50 infertile males analyzed, four males exhibited AZFc deletions. The SY 158 deletions were observed in three males, viz., azoospermic, severe oligozoospermic and oligozoospermic males. In one azoospermic male SY 254 deletion was observed.
Indian Journal of Medical Research, Jul 1, 2013
Indian Journal of Human Genetics, 2013
In the present issue of the Journal Fauzdar et al. [1] described detection of fetal aneuploidies ... more In the present issue of the Journal Fauzdar et al. [1] described detection of fetal aneuploidies in 163 pregnancies using a combination of techniques. Different samples like amniotic fluid, chorionic villus, and fetal blood obtained through amniocentesis were used for detection of these aneuploidies. Investigators used classical Giemsa banded cytogenetic technique supplemented with fluorescent in situ hybridization (FISH) for chromosomes 13,14,15,16,18,21,22, and X for their aneuploidies. In several cases, where FISH study was normal, classical cytogenetics showed inversion of chromosome 9 as it is not associated with clinical abnormality and considered as polymorphism. It is not clear how these patients were counseled. Moreover, authors used fluorescence microscope for Giemsa Banding studies which points to lack of knowledge of the group for prenatal diagnosis. If we carefully examine
PubMed, Sep 21, 2000
Background: Haemophilia A is the most common congenital bleeding disorder seen in man, affecting ... more Background: Haemophilia A is the most common congenital bleeding disorder seen in man, affecting one in 5000 to 10,000 males. Because of the large size and heterogeneity of mutations in the factor VIII gene, direct detection of mutations is not practically feasible, except the recently detected intron 22 inversions. Hence, the indirect method of gene tracking using various polymorphic markers is the method of choice. Using this approach, we have performed antenatal diagnosis in four haemophilia A families. Methods: The four families included 21 subjects who were used for gene-tracking analysis. Two families had a positive history with more than one member affected, while the remaining two families had a negative history with only one affected son. In all four families, the propositi and their affected relatives had severe haemophilia A with factor VIII:C less than 1%. All were negative for inhibitors. The polymorphic markers used were IVS 18 Bcl I, IVS 19 Hind III and the extragenic DXS 52 St 14 of the factor VIII gene. Prior to polymorphism analysis, the sex of the foetus was determined using Y chromosome-specific primers. All the analyses were carried out by polymerase chain reaction. Results: Antenatal diagnosis in the four families showed three normal male foetuses and one normal female foetus. Two families provided evidence with only IVS 18 Bcl I and St 14 markers. One family provided information with only intron 19 Hind III marker. The fourth family provided information with all three markers. The coagulation parameters were almost in agreement with the results of DNA analysis. Conclusion: All three polymorphic markers yielded information. This suggests that these three markers can be effectively used in the antenatal diagnosis of haemophilia A in Indian families.
Indian Journal of Human Genetics, 2009
Intellectual disability comprises wider spectrum of conditions other than mental retardation. Def... more Intellectual disability comprises wider spectrum of conditions other than mental retardation. Defining features of mental retardation includes an IQ below
Asian Journal of Transfusion Science, 2016
History History By the end of the 19 th century, it was known that some proteins can agglutinate ... more History History By the end of the 19 th century, it was known that some proteins can agglutinate red blood cells. Earlier, the lectins identifi ed were derived
Journal of Human Ecology, May 1, 2002
Transfusion Medicine, Jun 28, 2008
Walter H Dzik Born at the dawn of the 20th Century, Transfusion Medicine has seen tremendous prog... more Walter H Dzik Born at the dawn of the 20th Century, Transfusion Medicine has seen tremendous progress and technical achievement during the last 100 years. As the pace of change increases, the prospects for the future are even brighter. This lecture will review the recent past developments and provide conjecture on future advances in each of the following areas: blood donor services, infectious hazards, noninfectious hazards, process risk, diagnostics and therapeutics. Expectations of what may occur by 2010 and 2015 will be presented. Emerging technologies such as gene array and radiofrequency identification are likely to produce advances in the safety of blood transfusion therapy. More into the future, nanotechnology may re-invent the indications for blood therapies. The field of new therapeutics should be the fastest growing area and the lecture will highlight recent advances in drug development and molecular therapeutics as well as highlight coming technology such as robotic surgery. The therapeutic promise offered by nuclear transfer technology and its impact on cellular therapies will be addressed. With these new opportunities come new challenges and the lecture concludes with an impassioned reminder of the real challenges that await us.
Transfusion Medicine and Hemotherapy
Background: Antibodies to human neutrophil alloantigens (HNA) are involved in the pathophysiology... more Background: Antibodies to human neutrophil alloantigens (HNA) are involved in the pathophysiology of several clinical conditions including transfusion-related acute lung injury (TRALI), alloimmune and autoimmune neutropenia, and febrile nonhemolytic transfusion reactions leading to neutropenia. The cognate antigens are polymorphic structures expressed on several glycoproteins on the neutrophils, i.e., antigens HNA-1a, -1b, -1c, and -1d on Fc-γ-receptor IIIb; HNA-2 on CD177; HNA-3a and -3b on choline transporter-like protein 2; HNA-4a and -4b on CD11b/αM subunit of the αMβ2-integrin (CD11b/CD18, Mac-1, CR3); and HNA-5a and -5b on αL-subunit (CD11a) of the αLβ2 integrin (CD11a/CD18), leukocyte function associated molecule (LFA)-1. Currently, there is a lacuna of diagnostic methods for detection of HNA in India. This study aimed to determine the HNA frequencies in Indians, estimate the risk of alloimmunization, and prepare typed neutrophil panels, which can be used to detect HNA antibo...
The Indian Journal of Medical Research, 2017
The molecular basis of the blood group antigens was identified first in the 1980s and 1990s. Sinc... more The molecular basis of the blood group antigens was identified first in the 1980s and 1990s. Since then the importance of molecular biology in transfusion medicine has been described extensively by several investigators. Molecular genotyping of blood group antigens is one of the important aspects and is successfully making its way into transfusion medicine. Low-, medium- and high-throughput techniques have been developed for this purpose. Depending on the requirement of the centre like screening for high- or low-prevalence antigens where antisera are not available, correct typing of multiple transfused patients, screening for antigen-negative donor units to reduce the rate of alloimmunization, etc. a suitable technique can be selected. The present review discusses the evolution of different techniques to detect molecular genotypes of blood group systems and how these approaches can be used in transfusion medicine where haemagglutination is of limited value. Currently, this technolog...
century, made notable contributions to the understanding of a wide range of human diseases like m... more century, made notable contributions to the understanding of a wide range of human diseases like malaria, hemochromatosis, iron overload, leukemia, etc. His publications on these subjects include more than 800 original articles, numerous chapters, monographs, and books.The world especially remembers him for his seminal contribution in understanding drug (Primaquine)-induced hemolysis in malarial infection. He, through his painstaking work, linked this hemolysis to G6PD deficiency and spent a good part of his life in studying G6PD deficiency in particular and red cell enzymopathies in general. He devised several simple spot tests to detect G6PD deficiency and pyruvate kinase deficiency by field workers who are not experts in red cell enzyme studies. His manual on red cell enzymes
The interaction between human host and the Plasmodium parasite is complex. The factors affecting ... more The interaction between human host and the Plasmodium parasite is complex. The factors affecting the causality of infection and its severity are yet not completely understood. Single Nucleotide Polymorphisms (SNP) associated with CR1 may be associated with patho-physiology of malaria and its susceptibility to the disease. Methods: The objective of the present study was to calculate the incidence of various antigens of Knops blood group system and CR1 Exon22 polymorphisms in rural population from Chiplun Taluka of Ratnagiri district. The study included 112 malaria positive cases and 909 healthy controls, which were screened for CR1 Exon22 polymorphism. Knops (Kna/b), McCoy (McCa/b), Swain-Langley (Sl1/2) polymorphisms were screened in 93 cases and 321 healthy controls. The frequencies were determined using a PCR-RFLP technique. Results: Only wild types of the allele form were observed in Knops blood group system in malaria cases and healthy control. CR1 exon22 polymorphism was seen i...
The Journal of Allergy and Clinical Immunology: In Practice, 2019
Hematopathology, 2019
Immune cytopenia is a reduction in the number of mature blood cells. This can be caused by alloan... more Immune cytopenia is a reduction in the number of mature blood cells. This can be caused by alloantigens present on the surface of blood cells i.e. red blood cells or erthyrocytes, white blood cells or leucocytes and platelets or thromobocytes. Alloantigens stimulate the immune system of host against foreign antigens causing alloimmunization and subsequent production of alloantibodies which caused decreased survival of blood cells in vivo. This chapter focuses on red blood cell antigens, human platelet antigens, human neutrophil antigens and human leucocyte antigens and their role in immune cytopenias.
Asian Journal of Transfusion Science, 2016
History History By the end of the 19 th century, it was known that some proteins can agglutinate ... more History History By the end of the 19 th century, it was known that some proteins can agglutinate red blood cells. Earlier, the lectins identifi ed were derived
Transfusion Medicine, 2008
Aim To find incidence of partial D variants in India and classify them by molecular techniques.M... more Aim To find incidence of partial D variants in India and classify them by molecular techniques.Method Partial D variants were identified by screening blood samples of subjects from Western India by using partial D kit (Scottish National Blood Transfusion Service). Molecular characterization of partial D variants was performed using multiplex PCR(M‐PCR).Result The incidence of partial D was 0.15% in the population studied. Forty eight partial D variant samples identified by serological studies were classified by M‐PCR. 29% of partial D variants identified were of DFR and 14.6% were of DVI category. 77% of partial D variants identified in Indian population were characterized by M‐PCR. Fifteen families of partial D variants were studied and ten more individuals of same variant were identified. All partial D variants were of R1r (DCe/dce) phenotype. The family studies showed partial D hybrid (RHD‐CE‐D) was linked with Ce gene.Conclusion DFR was most frequently found partial D in Ind...
Indian Journal of Human Genetics, 2009
Intellectual disability comprises wider spectrum of conditions other than mental retardation. Def... more Intellectual disability comprises wider spectrum of conditions other than mental retardation. Defining features of mental retardation includes an IQ below
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Papers by Ajit Gorakshakar