23

PATTERNS
OF

GENE INHERITANCE

CHAPTER REVIEW
The genes are on the chromosomes; each gene has a minimum of two alternative forms called alleles. Mendels laws are consistent with the observation that each pair of alleles segregates independently of the other pairs during meiosis when the gametes form. It is customary to use letters to represent the genotype of individuals. Homozygous dominant is indicated by two capital letters, and homozygous recessive is indicated by two lowercase letters. Heterozygous is indicated by a capital letter and a lowercase letter. In a one-trait cross, each heterozygous individual can form two types of gametes. In a two-trait cross, each heterozygous individual can form four types of gametes. Use of the Punnett square allows us to make sure that all possible sperm have fertilized all possible eggs. These results tell us the chances of a child inheriting a particular phenotype. With regard to the monohybrid cross, there is a 25% chance of each child having the recessive phenotype and a 75% chance of each having the dominant phenotype. Testcrosses are used to determine if an individual with the dominant phenotype is homozygous or heterozygous. If an individual expressing the dominant allele reproduces with an individual expressing the recessive allele and an offspring with the recessive phenotype results, we know that the individual is heterozygous. Studies of human genetics have shown that there are many autosomal genetic disorders that can be explained on the basis of simple Mendelian inheritance. When studying human genes, biologists often construct pedigree charts to show the pattern of inheritance of a characteristic within a family. The particular pattern indicates the manner in which a characteristic is inherited. Sample charts are given for autosomal dominant and autosomal recessive patterns. Neurofibromatosis and Huntington disease are autosomal dominant disorders that have been well studied. Tay-Sachs disease, cystic fibrosis, and PKU are autosomal recessive disorders that have been studied in detail. There are many exceptions to Mendels laws. These include polygenic inheritance (skin color), multiple alleles (ABO blood type), and degrees of dominance (curly hair). Traits controlled by polygenes are subject to environmental effects and show continuous variations whose frequency distribution forms a bell-shaped curve. Several human disorders such as cleft palate and human behaviors are most likely controlled by polygenes. Sickle-cell disease is a human disorder that is controlled by incompletely dominant alleles.

S T U DY E X E R C I S E S
Study the text section by section as you answer the questions that follow.

23.1 MENDELS LAW (P . 470)

Today, it is known that alleles (alternate forms of a gene), located on chromosomes control the traits of individuals. Mendel discovered certain laws of heredity after doing experiments with garden peas during the mid-1800s. The law of segregation states that each organism contains two factors for each trait and the factors segregate during the formation of gametes The law of independent assortment states that every possible combination of factors is present in the gametes. A testcross can be used to determine the genotype of an individual with the dominant phenotype.

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1. Letters on homologous chromosomes stand for genes that control a a. ____________ , such as hair color. The genes are in a definite sequence and remain in their spots, or b. ___________ , on the chromosomes. Alternate forms of a gene having the same position on a pair of homologous chromosomes and affecting the same trait are called c. ___________________ . 2. Place a T next to each of the statements below that are true and NT next to statements that are not true about Mendels law of segregation. a. Each individual has two alleles (factors) for each trait. b. Alleles separate during fertilization. c. Each gamete contains only one allele from each pair of factors. d. Fertilization gives each new individual one factor for each trait. e. Pairs of alleles must separate during meiosis. f. Alleles are on chromosomes that are not homologous. The Inheritance of a Single Trait (p. 472) 3. Complete the following table to distinguish between the terms genotype, phenotype, and gamete alleles. Assume that W represents a dominant allele for widows peak and w represents the recessive allele for continuous hairline.

Genotype

Genotype

Phenotype

Gamete(s)

a. Ww f. c. g.

Homozygous dominant

b. d. Straight hairline e. h.

4. Using this key, E = unattached, e = attached, do Punnett squares for cross 1 and cross 2. Cross 1 heterozygous homozygous recessive Cross 2 heterozygous heterozygous

a. What is the phenotypic ratio for cross 1?______________________ b. What are the chances of the recessive phenotype for cross 1?___________ c. What is the phenotypic ratio for cross 2?______________________ d. What are the chances of the recessive phenotype for cross 2?___________ 5. A man with a straight hairline reproduces with a woman with widows peak whose father has a straight hairline and whose mother had widows peak. The couple produce a child with a straight hairline. What are the genotypes of all the individuals involved? Key W = widows peak w = straight hairline a. man with a straight hairline _____ _____ b. woman with widows peak _____ _____ c. child _____ _____ d. womans father _____ _____ e. womans mother _____ _____ 189

The Inheritance of Many Traits (p. 475) 6. Place T next to each of the statements below that are true and NT next to statements that are not true about Mendels law of independent assortment as it pertains to an individual with the genotype AaBb. a. The alleles separate independently, so any possible combination (e.g., AB, ab, Ab, or aB ) could be in the gametes. b. The alleles separate independently, so even the combinations Aa, Bb could also be in the gametes. c. The alleles do not separate independently, so only the combinations AB or ab could be in the gametes. d. Each gamete contains one allele from each pair of alleles, and independent separation increases the variety of gametes for each individual. 7. The cross WwSs WwSs usually results in a phenotypic ratio close to 9:3:3:1. If W = widows peak, w = straight hairline, S = short fingers, s = long fingers, then out of 16 individuals 9 individuals are expected to have the phenotype a. _______________. 3 individuals are expected to have the phenotype b. _______________. 3 individuals are expected to have the phenotype c. _______________. 1 individuals are expected to have the phenotype d. _______________. 8. A parent with widows peak and short finger has a child with straight hairline and long fingers. What is the genotype of the parent? a. ____________ If the parent were homozygous dominant for both traits, what would be the phenotype of the child? b. ____________ 9. Do a Punnett square for the cross in horses BbTt Bbtt. a. _________________ B = black b = brown T = trotter t = pacer

What is the phenotypic ratio among offspring? b. _________________: _________________ _________________: _________________

23.2 GENETIC DISORDERS (P . 478)

Many genetic disorders are inherited, according to Mendels laws. The pattern of inheritance indicates whether the disorder is a dominate or a recessive disorder. Dominant genetic disorders appear if a single dominate allele is inherited; recessive genetic disorders require the inheritance of two recessive alleles.
1 3 2

10. This is a portion of a pedigree chart for a dominate disorder. Which of these individuals could be AA ? a. __________ Explain: _________________________________________ _________________________________________________________________________________________________ Which of these individuals is known to be Aa b. __________ Explain: ____________________________________ _________________________________________________________________________________________________

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Which of these is aa ? c. __________ Explain: __________________________________________________________ _________________________________________________________________________________________________ Are heterozygotes affected or unaffected? d. __________________________________________________________ _________________________________________________________________________________________________
1 3 2

11. This is a portion of a pedigree chart for a recessive disorder. Which of these individuals could be AA ? a. __________ Explain: _________________________________________ _________________________________________________________________________________________________ Which of these individuals is Aa ? b. __________ Explain: _______________________________________________ _________________________________________________________________________________________________ Which of these individuals is aa ? c. __________ Explain: ________________________________________________ _________________________________________________________________________________________________ Are homozygous dominant individuals and heterozygous individuals affected or unaffected? d. ______________ _________________________________________________________________________________________________ For questions 12 and 13, indicate the genotype of each person in the pedigree charts. First, decide if the disorder (darkened shapes) is dominant or recessive. Use the alleles A and a in each case. 12.

13.

14. Match the following disorders to each of the statements below. 1. neurofibromatosis 5. phenylketonuria 2. Huntington disease 6. sickle-cell disease 3. Tay-Sachs disease 7. sickle-cell trait 4. cystic fibrosis a. nerve cell tumor growing under skin or in organs b. accumulation of phenylketone in urine c. allows better survival in Africa from malaria d. brain cell degeneration causing muscle spasms e. red blood cells are sickle shaped, clog arteries f. mucus builds up in respirator system g. buildup of glycosphingolipid in lysosomes 15. A person heterozygous for Huntington disease reproduces with a person who is perfectly normal. What are the chances of an offspring developing Huntington disease when older? _____________________________________

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16. Mary is 50 years old and has Huntington disease. Her father was killed accidentally at a young age; her mother is 80 years old and is normal. What is the most likely genotype of all persons involved? Use the alleles A and a. Marys mother a.________ Marys father b.________ Mary c.________ 17. Both parents appear to be normal, but their child has cystic fibrosis. What is the genotype of all persons involved? Use the alleles A and a. a. parents ________________________________________ b. child ________________________________________

23.3 BEYOND MENDELS LAWS (P . 481)

Polygenic traits include skin color, behavior, and various syndromes. Blood type is controlled by multiple alleles. Some traits like sickle-cell disease are incompletely dominant. 18. A woman has a genotype of AABB for skin color. She reproduces with a man whose genotype is aabb. What are the genotype and phenotype of their offspring? a. genotype ____________________ b. phenotype ____________________ 19. Mrs. Doe and Mrs. Roe had babies at the same hospital. Mrs. Doe took home a girl, Nancy, and Mrs. Roe received a boy, Richard. However, Mrs. Roe was certain she gave birth to a girl and brought suit against the hospital. Blood tests showed that Mr. Roe was type O, Mrs. Roe was type AB, and Mr. and Mrs. Doe were both type B. Nancy was type A, and Richard was type O. List the possible genotypes of each individual, and then indicate the correct parents for each child. Genotypes: a. Mrs. Doe __________________ b. Mr. Doe __________________ c. Nancy __________________ d. Mrs. Roe __________________ e. Mr. Roe __________________ f. Richard __________________

g. Whose baby is Nancy? __________________ h. Whose baby is Richard? __________________ 20. Curly and straight hair, when crossed, are an example of _____________________ dominance, because the resulting individuals have the intermediate character of wavy hair. 21. A curly-haired man has children with a wavy-haired woman. What are the genotypes and phenotypes of their children? Key H = curly hair H = straight hair Mans genotype a._____________ Womans genotype b._____________ Use this Punnett square to determine the outcome of this cross.

Genotypes of children c._______________________ Possible phenotypes of children d._______________________ Could any of the children have straight hair? e._______________________ 22. A child has sickle-cell disease. What are the genotypes of the parents, who appear to be normal?

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CHAPTER TEST
OBJECTIVE QUESTIONS
Do not refer to the text when taking this test. ___ 1. If 25% of the offspring of one set of parents show the recessive phenotype, the parents were probably a. both homozygous recessive. b. both homozygous dominant. c. both heterozygous. d. one homozygous dominant, one homozygous recessive. ____ 2. Alleles a. are alternate forms of a gene. b. have the same position on a pair of chromosomes. c. affect the same trait. d. All of these are correct. ____ 3. Which of these crosses could produce a blueeyed child? ( B = brown, b = blue) a. BB bb b. Bb Bb c. bb Bb d. Bb BB e. Bb bb Questions 4 and 5 are concerned with this pedigree chart. The shaded individuals are affected by a disorder, whereas the unshaded individuals are not affected. ____ 7. Why is it that two normal parents could have a child with PKU? a. PKU is a dominant inherited disorder. b. PKU is a recessive inherited disorder. c. PKU results due to an error in gamete formation. d. There is no known explanation. ____ 8. If only one parent is a carrier for Huntington disease, what is the chance a child will have the condition? a. 25% b. 50% c. 75% d. no chance ____ 9. Polygenic inheritance can explain a. a range in phenotypes among the offspring. b. the occurrence of degrees of dominance. c. the inheritance of behavioral traits. d. Both a and c are correct. ____10. Sickle-cell disease illustrates a. dominance. b. recessiveness. c. incomplete dominance. d. multiple pairing. ____11. Two individuals with medium-brown skin color could have children who are both darker and lighter than they are. a. true b. false ____12. A female with light brown skin would be able to have a child with very dark skin if she reproduces with a very dark-skinned male, or a dark child if she reproduces with a light-skinned male. a. true b. false ____13. Which children could not have parents both with type A blood? a. type A b. type O c. type AB d. type B e. Both c and d are correct. ____14. Which children could not have a parent with type AB blood? a. type A b. type B c. type AB d. type O ____15. Inheritance by multiple alleles is illustrated by the inheritance of a. skin color. b. blood type. c. sickle-cell disease. d. Both b and c are correct. 193

1 2

____ 4. The disorder is a. X-linked. b. dominant. c. recessive. d. not able to be determined. ____ 5. Individuals 1 and 2 are a. AA AA b. aa aa c. Aa Aa d. Aa aa e. Aa AA ____ 6. If a man is a carrier of Tay-Sachs disease, but a woman is homozygous normal, what are the chances of their child having Tay-Sachs? a. none b. 50% c. 25% d. 1:1

____16. When may complications arise regarding a pregnancy? a. Rh woman and Rh + man b. Rh + woman and Rh c man c. Rh + woman and Rh + man d. Rh woman and Rh man For questions 1723, match the following types of genetic crosses to each of the examples listed below. a. multiple alleles e. polygenic b. incomplete dominance f. monohybrid cross c. disorder dominant g. dihybrid cross d. disorder recessive 17. 18. 19. 20. 21. 22. 23. Rh + Rh AO AB neurofibromatosis skin color Tay-Sachs disease YySs YySs wavy hair straight hair

24. In horses, T = trotter, t = pacer, B = black, and b = chestnut. If a dihybrid in both traits is mated with a chestnut pacer, the results will be a. 1 black trotter : 1 chestnut pacer. b. 3 black trotters : 1 chestnut pacer. c. 1 black chestnut : 1 trotter pacer : 1 black pacer : 1 chestnut trotter. d. 1 black trotter : 1 chestnut pacer : 1 black pacer : 1 chestnut trotter. 25. If Y = yellow seeds, y = green seeds, S = smooth seed coat, s = rough seed coat, and a dihybrid is crossed with a dihybrid, then 9 out of 16 offspring will most likely be a. yellow, rough. b. yellow, smooth. c. green, rough. d. green, smooth.

THOUGHT QUESTIONS
Answer in complete sentences. 26. To test whether an animal has a homozygous dominant genotype or a heterozygous genotype, it is customary to mate them to the homozygous recessive animal rather than a heterozygote. Why?

27. Discuss the concept that chance has no memory.

Test Results: _______ number correct 27 = _________ 100 = _______%

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ANSWER KEY
STUDY EXERCISES
1. a. trait b. loci c. alleles 2. a. T b. NT c. T d. NT e. T f. NT 3. a. Ww b. widows peak c. heterozygous d. Ww e. W, w f. ww g. homozygous recessive h. w 4. a. 1:1 b. 50% c. 3:1 d. 25% 5. a. ww b. Ww c. ww d. ww e. Ww 6. a. T b. NT c. NT d. T 7. a. widows peak and short fingers b. widows peak and long fingers c. straight hairline and short fingers d. straight hairline and long fingers 8. a. WwSs b. widows peak and short fingers 9. a.
Bt BT Bt bT bt BBTt BBtt BbTt Bbtt bt BbTt Bbtt bbTt bbtt

dividual is shadedonly aa are shaded. d. unaffected 12. top: aa, Aa middle: Aa, Aa; aa; aa; A? A? bottom: A? A? aa; aa, aa, aa; A?; A?, A? 13. top: Aa, Aa middle: aa, Aa; aa, A?; A?, A? bottom: aa, Aa, Aa; Aa, Aa; A?, A?, A? 14. a. 1 b. 5 c. 7 d. 2 e. 6 f. 4 g. 3 1 5. 50% 16. a. aa b. Aa c. Aa 17. a. Aa b. aa 18. a. AaBb b. medium brown skin color 19. a. BB or BO b. BB or BO c. AA or AO d. AB e. OO f. OO g. Nancy belongs to the Roes. h. Richard belongs to the Does. 20. incomplete 21. a. HH b. HH c. HH or HH d. curly or wavy hair e. no, because one parent must pass on an H. 22. both are heterozygous.

CHAPTER TEST
1. c 2. d 3. b, c, e 4. c 5. c 6. a 7. b 8. b 9. d 10. c 11. a 12. b 13. e 14. d 15. b 16. a 17. f 18. a 19. c 20. e 21. d 22. g 23. b 24. d 25. b 26. If a heterozygote is mated to a heterozygote, there is a 25% chance for any offspring to be recessive. If a heterozygote is mated to a homozygous recessive, there is a 50% chance for any offspring to be recessive. It is only when the animal is mated to a homozygous recessive that its genotype can be determined. 27. The concept that chance has no memory refers to the idea that each pregnancy has the same probability as the previous one. If two heterozygous parents already have three children with a widows peak and they are expecting a fourth child, this child still has a 75% chance of a widows peak and a 25% chance of a continuous hairline.

b. 3 black trotters; 3 black pacers: 1 brown pacer: 1 brown trotter 10. a. 2, Individual 2 is shaded and it is impossible to tell if the individual is AA or Aa. b. 3, Individual 3 has to be Aa because one parent is unaffected. c. 1, Individual 1 is not affected; therefore, the individual has to be aa. d. affected 11. a. None, Individuals 1 and 2 are not shaded, but they are heterozygous because they have an affected child. b. 1 and 2, They have to be heterozygous in order to have an affected child. c. This in-

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