BÀI TẬP PHÂN TÍCH DI TRUYỀN PHẢ HỆ Ở NGƯỜI

Câu 1. V-1 and V-2 wish to wed but are unaware that they share a common great-great-
grandmother (I-2), who was heterozygous for a very rare autosomal recessive disease. The
probability that their first child will be affected is (a) 1/16, (b) 1/64, (c) 1/256, (d) 1/1,024,
(e) 1/4,096, (f) none of the above.

Câu 2. Two phenotypically normal people marry. Unknown to them, they have a common great-
grandfather who suffered from a rare disorder (1 in 30,000 affected in the general
population) that is inherited as an autosomal recessive trait (dd). Assume that the people
marrying into this pedigree are all DD, that there has been no earlier consanguinity, and
that no affected (dd) individuals have occurred. What is the probability that the first child
of this couple (a baby girl) will be affected? Draw the pedigree.
Câu 3. Consider the following pedigree.

(a) What pattern of transmission is most consistent with this pedigree? (1) autosomal
recessive, (2) autosomal dominant, (3) X-linked recessive, (4) X-linked dominant.
(b) If individual V-2 marries a normal individual, and if the condition has a penetrance of 85
percent, what is the probability that their second child will express the trait?
(c) On the third line, what does the diamond with a 10 in the middle mean?
Câu 4. The accompanying pedigree is for a trait with 100 percent penetrance. The trait is not
necessarily uncommon in the population, but individual I-1 is homozygous normal.

(a) What is the probable mode of inheritance?

(b) What is the probability that the child of the brother-sister mating between II-3 and II-4
will show the trait phenotypically?
(c) What is the probability that a child of the first-cousin marriage (III-2 and III-3) will carry
the gene for the trait?

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Câu 5. What kind of inheritance pattern is illustrated in this pedigree? Please name one or more
specific traits that might fit this pattern of transmission and expression.

Câu 6. Consider the following pedigree of a trait having 100 percent penetrance.

(a) The probable mode of inheritance of this trait is (1) X-linked dominant, (2) X-linked
recessive, (3) autosomal recessive, (4) autosomal dominant.
(b) If individual V-2 marries a homozygous normal person, what is the probability that their
first child will be a carrier?
Câu 7. What kind of inheritance pattern is illustrated in this hypothetical pedigree? What is the
probability that the offspring shown as a question mark will express the trait if it is a male
child? What is the probability if it is a female child?

Câu 8. What can you tell the propositus about the inheritance of the trait he is exhibiting? How
would you explain the entry of the gene into the pedigree?

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Câu 9. Shown is a pedigree for polydactyly in humans. What is the mode of inheritance for
polydactyly, and what specific clues does the pedigree provide to support your hypothesis?

Câu 10. This pedigree shows the inheritance of two traits. One, marked with diagonal lines, is the
inheritance of a DNA marker; and the other, marked as a solid black symbol, is for total
color blindness where an affected individual sees objects only in shades of white, gray, and
black.

(a) Since two traits are segregating in the same pedigree, would we classify the genetic
expression as pleiotropic? Why or why not?
(b) What is the inheritance pattern shown by each trait?
(c) If male IV-16 were to marry female IV-5, what is the probability that their first child
would have the DNA marker?
(d) What is the probability that the first son will be totally color-blind?
(e) What is the probability that the first child will both be color-blind and carry the DNA
marker?
Câu 11. Consider the following pedigree.

(a) What pattern of transmission is most consistent with this pedigree?

(1) autosomal sex-influenced, (2) autosomal sex-limited,
(3) autosomal dominant, (4) X-linked dominant, (5) X-linked recessive.
(b) If individual V-2 marries a normal individual whose father expresses the condition, what
is the probability that they will have a daughter who expresses the condition? A son who
expresses the condition?

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Câu 12. The following pedigree was obtained by examining a molecular marker

(a) What pattern of transmission is most consistent with this pedigree? Explain.
(b) If individual II-4 were to marry a female whose brothers all expressed the marker, what is
the probability that they would have a male child who expressed the marker? What is the
probability a female child would express the marker?