24

PATTERNS OF CHROMOSOMAL INHERITANCE

CHAPTER REVIEW
Humans inherit 22 autosomes from each parent. Nondisjunction during meiosis can result in an abnormal number of autosomes to be inherited. Down syndrome results when an individual inherits three copies of chromosome 21. Also, chromosomal mutations lead to phenotypic abnormalities; for example, in cri du chat syndrome, one copy of chromosome 5 has a deletion. The father determines the sex of a child because the mother gives only an X chromosome while the father gives an X or a Y chromosome. Males who inherit a fragile X chromosome are subject to mental retardation. Nondisjunction of the sex chromosomes can also cause abnormal sex chromosome numbers in offspring. Females who are XO have Turner syndrome, and those who are XXX are metafemales. Males with Klinefelter syndrome are XXY. There are also XYY males. Females have an inactive condensed X chromosome in their nuclei called a Barr body. If heterozygous, their cells differ in which allele is active. Sometimes this allows them to be tested to see if they are a carrier for a genetic disease. Because males normally receive only one X chromosome, they are subject to disorders caused by the inheritance of a recessive allele on the X chromosome. For example, in a cross between a normal male and a carrier female, only the male children could have the X-linked disorder color blindness. Other well-known X-linked disorders are hemophilia and Duchenne muscular dystrophy. All the genes on one chromosome form a linkage group, which is broken only when crossing-over occurs. Genes that are linked tend to go together into the same gamete. If crossing-over occurs, a dihybrid cross gives all possible phenotypes among the offspring, but the expected ratio is greatly changed. Crossing-over data have not helped to any degree to map the human chromosomes.

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.

24.1 INHERITANCE

OF

CHROMOSOMES (P . 488)

Normally, humans inherit 22 pairs of autosomes and one pair of sex chromosomes for a total of 46 chromosomes. Abnormalities arise when humans inherit an extra autosome or an abnormal autosome.

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1. Match these terms with the descriptions. Karyotype, X and Y chromosomes, XX, homologous chromosomes, autosomes, Down syndrome, XY _____________ a. Name for this type of display of a persons chromosome _____________ b. Sex chromosomes _____________ c. All chromosomes but the sex chromosomes _____________ d. Pairs of chromosomes _____________ e. Female _____________ f. Male _____________ g. Three of chromosome 21 2. Down syndrome arises when the egg has two copies of chromosome 21. Complete this diagram to illustrate the occurrence of nondisjunction during meiosis I (left-hand side) and nondisjunction during meiosis II (right-hand side). a.
Pair of homologous chromosomes Pair of homologous chromosomes

Nondisjunction

Normal meiosis I

Normal meiosis II Meiosis II

Nondisjunction

Abnormal gametes: two gametes have one extra and two gametes have one less chromosome than normal.

Gametes have usual number of chromosomes.

One gamete has one extra and the other has one less chromosome.

Following fertilization, if the zygote has one more chromosome than usual, a b. ______________ has occurred. On the other hand, if the zygote has one less than usual, a c. ______________ has occurred. 3. Identify the types of chromosomal mutations shown in the following illustration.
a b c d e f g a. e f g a b d c a b c d e f g c.

b c d e f g

a b c d e f g

l m n o p q r b.

a b c d e q r

l m n o p f g

a b c d e f g

a b c d e d e f d. g

Cri du chat is due to which of these mutations? e. ______________ 197

24.2 INHERITANCE

OF

SEX CHROMOSOMES (P . 492)

Normally, males are XY and females are XX. Abnormalities arise when humans inherit an incorrect number of sex chromosomes. 4. Since males are XY and females are XX, the gender of the individual is normally determined by the a. ______________ parent depending on whether the offspring receives and b. _______ or a c. _______ chromosome. 5. Match the following conditions to each of the descriptions below. Terms can be used more than once. 1. Turner syndrome 2. Klinefelter syndrome 3. triplo-X individual 4. Jacobs syndrome 5. fragile X syndrome a. female with no apparent physical abnormalities b. hyperactive as children, protruding ears as adults, mentally retarded c. male with some breast development, large hands d. XYY male e. XXY male f. XXX female g. XO female h. X chromosome is nearly broken, leaving its tip hanging i. female with no Barr body

24.3 SEX-LINKED INHERITANCE (P . 496)

Certain traits, unrelated to the gender of the individual, are controlled by genes located on the sex chromosomes. Males always express X-linked recessive disorders because they inherit only one X chromosome. 6. If X B = normal vision and X b = color blindness, state the sex and the phenotype of each of these genotypes. XBXB XBXb XbXb XBY XbY a. _________________________ b. _________________________ c. _________________________ d. _________________________ e. _________________________

7. Explain why more males than females have X-linked genetic disorders. a. ________________________________ sons inherit the disorder from their mothers. b. ________________________________________________________ 8. Indicate the genotype of each person in the following pedigree chart. Use alleles A or a attached to an X chromosome in each case. a.

How do you know that this is a pedigree chart for an X-linked recessive trait? b. ___________________________ 9. Match the disorders in the key to the descriptions that follow: hemophilia, muscular dystrophy, color blindness a. muscle weakness b. cant see reds and greens c. bleeders disease 198

10. Use the Punnett square to show the expected outcome if a color-blind woman reproduces with a man who has normal vision What are the chances of a color-blind daughter? a. ______________ What are the chances of a color-blind son? b. ______________. 11. A son is color blind, but his mother and father are not color-blind. Give the genotype of all persons involved. son ___________________ mother ________________ father _________________ 12. What is the genotype of a woman who is homozygous for widows peak and a carrier for color blindness? ________________________________________________________________________________________ 13. Some traits, such as patterned baldness, are influenced by the sex of the individual, although the genes for that trait are found on a. __________________ chromosomes. Such traits are called b. __________________ traits. Patterned baldness is believed to be influenced by the male sex hormone c. __________________. Therefore more (males/females) d. __________________ have the characteristic.

24.4 LINKED GENES (P . 500)

Alleles that occur in the same chromosome form a linkage group and tend to be inherited together. 14. All the genes on one chromosome form a linkage group and tend to be inherited together. Mendels law of independent assortment ______________ (does/does not) hold for linked genes. In questions 1517, consider that, in humans, arched eyebrow ( E ) is dominant over curved eyebrow ( e ), and hitchhiker thumb ( T ) is dominant over normal thumb ( t ). Imagine that these two genes are linked and that two dihybrids having these gametes reproduce. 15. From the diagram, indicate the phenotype for the following offspring:
a. ______________ b. ______________ c. ______________ d. ______________

16. What is the phenotypic ratio among the offspring?

a. ______________

What would the ratio have been if the

genes were on nonhomologous chromosomes, according to Mendel? b. ______________

17. What are the chances (percent) that the offspring will have the following? curved eyebrows and normal thumbs a. ______________, arched eyebrows and hitchhiker thumbs
b. ______________,

arched eyebrows and

normal thumbs c. ______________, curved eyebrows and hitchhiker thumbs d. _______________. Is it correct to say that linkage cuts down on the possible number of phenotypes? e. ______________ If crossing-over between the alleles occurs during meiosis, which of the genotypes would occur but in limited number? f. ______________ and
g. ______________

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CHAPTER TEST
OBJECTIVE QUESTIONS
Do not refer to the text when taking this test. 1. Which phrase best describes the human karyotype? a. 46 pairs of autosomes b. one pair of sex chromosomes and 23 pairs of autosomes c. X and Y chromosomes and 22 pairs of autosomes d. one pair of sex chromosomes and 22 pairs of autosomes 2. The gene arrangement on a chromosome changes from ABCDEFG to ABCDEDEFG. This is an example of a. deletion. b. duplication. c. inversion. d. linkage. 3. Which of the following conditions is NOT an example of a chromosomal mutation? a. inversion b. translocation c. deletion d. duplication e. linkage 4. Which chromosomal mutation does NOT require the presence of another chromosome? a. translocation b. duplication c. inversion d. All of these are correct. 5. Which type of chromosomal mutation occurs when two simultaneous breaks in a chromosome lead to the loss of a segment? a. inversion b. translocation c. deletion d. duplication ____ 6. Which of these is an autosomal abnormality? a. Turner syndrome b. Down syndrome c. Klinefelter syndrome d. triplo-X syndrome ____ 7. XYY (Jacob syndrome) males occur, due to nondisjunction during a. oogenesis. b. spermatogenesis. c. fertilization. d. mitosis. ____ 8. Which condition is more likely to occur when the mother is over age 40? a. Turner syndrome b. triplo-X syndrome c. Down syndrome d. Klinefelter syndrome 200 Questions 9 and 10 pertain to this pedigree chart.
grandfather

normal daughter normal carrier

color blind

normal

grandson

normal

normal

color blind

carrier

____9. The allele for this disorder is a. dominant. b. recessive. c. X-linked. d. None of these is correct. 10. The genotype of the starred individual is a. Aa b. aa c. X A X a d. X A Y a 11. A woman who is a carrier for color blindness reproduces with a man who has normal color vision. What is the chance they will have a color-blind daughter? a. 50% b. 25% c. 100% d. no chance 12. A color-blind woman reproduces with a man who has normal color vision. Their sons will a. be like the father because the trait is X-linked. b. be like the mother because the trait is X-linked. c. all have normal color vision. 13. A girl is color blind. a. She received a color-blind allele from her mother. b. She received a color-blind allele from her father. c. All her sons will be color blind. d. Her father is color blind. e. All of the above are correct. 14. Which chromosome has genes to determine male genital development? a. chromosome 5 b. chromosome 10 c. chromosome 21 d. X chromosome e. Y chromosome

15. The ____ genotype indicates carrier female for color blindness. a. X B X B b. X B X b c. X b X b d. X B Y e. X b Y 16. The cri du chat syndrome in which an infants cry resembles a cats cry is due to a (an) a. deletion. b. duplication. c. inversion. d. translocation. e. invocation. 17. Which of the following statements is NOT correct? a. Females have an XX genotype. b. Males have an XY genotype. c. An egg always bears an X chromosome. d. Each sperm cell has an X and Y chromosome. e. The sex of the newborn child is determined by the father. 18. Which of the following genotypes do NOT have the correct number of Barr bodies? a. XY none b. XO one c. XX one d. XXY one e. XXX - two 19. Which of the following is NOT a characteristic of an X-linked recessive disorder? a. More males than females are affected. b. An affected son can have parents who have the normal phenotype. c. For a female to have the characteristic, her father must also have it. d. The characteristic often skips a generation from the grandmother to the granddaughter. e. If a woman has the characteristic, all of her sons will have it.

20. Which of the following is NOT considered an X-linked recessive disorder? a. Tay-Sachs disease b. color blindness c. hemophilia d. muscular dystrophy (some forms) e. agammaglobulinemia 21. Which of the following statements is NOT true about a linkage group? a. It includes all alleles on one chromosome. b. Traits controlled by linked genes tend to be inherited together. c. If linkage is complete, a dihybrid produces only two types of gametes in equal proportion. d. Incomplete linkage can be due to crossingover between nonsister chromatids. 22. The X-linked disease prevalent among royal families of Europe at the turn of the century was a. muscular dystrophy. b. color blindness. c. hemophilia. d. fragile-X syndrome. e. cri du chat syndrome.

THOUGHT QUESTIONS
Answer in complete sentences. 23. Why is it evident that a gene for maleness exists on the Y chromosome?

24. Why are color-blind women rare?

Test Results: ______ Number right 24 = ______ 100 = ______ %

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ANSWER KEY
STUDY EXERCISES
1. a. karyotype b. X and Y chromosomes c. autosomes d. homologous chromosomes e. XX f. XY g. Down syndrome 2. a. See Figure 24.2 in text. b. trisomy c. monosomy 3. a. inversion b. translocation c. deletion d. duplication e. deletion 4. a. male b. X c. Y 5.a . 3 b. 5 c. 2 d. 4 e. 2 f. 3 g. 1 h. 5 i. 1 6. a. female with normal vision b. female who is a carrier c. female who is color blind d. male with normal vision e. male who is color blind 7. a. If a male inherits the recessive gene, he always has the disorder b. only mothers pass on an X chromosome to their sons. 8. a. top: X a Y, X A X A middle: X A X A , X A Y, X A X A , X A Y, X A X a , X A Y bottom: X A Y, X A Y, X A Y, X A X A , X A X A , X a Y b. only males have the disorder, and it passes from grandfather to grandson by way of a female. 9. a. muscular dystrophy b. color blindness c. hemophilia 10. a. none b. 100% 11. son X b Y, mother X B X b , father X B Y 12. WW X B X b 13. a. autosomal b. sex-influenced c. testosterone d. males 14. does not 15. a. arched eyebrow and hitchhiker thumb b. curved eyebrow and normal thumb c. arched eyebrow and hitchhiker thumb d. arched eyebrow and hitchhiker thumb 16. a. 3:1 b. 9:3:3:1 17. a. 25% b. 75% c. 0% d. 0% e. yes f. curved eyebrow and hitchhiker thumb g. arched eyebrow and normal thumb

CHAPTER TEST
1. d 2. b 3. e 4. c 5. c 6. b 7. b 8. c 9. b 10. c 11. d 12. b 13. e 14. e 15. b 16. a 17. d 18. b 19. d 20. e 21. d 22. c 23. Any individual receiving a Y chromosome is male. 24. A color-blind woman has to receive an allele for color blindness from both parents. If she receives only one allele for color blindness and one normal allele, she will not be color blind.

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