Solutions To Practice Problems For Genetics, Session 3: Pedigrees
Solutions To Practice Problems For Genetics, Session 3: Pedigrees
Question 1
In the following human pedigrees, the filled symbols represent the affected individuals. You may assume that the
disease allele is rare and therefore individuals marrying into the family are unlikely to have defective allele.
a)
2 3
4 5
ii) State the genotypes of individuals # 1-5 in the following table using the letter ”A”. Use the uppercase
letter to represent the dominant allele and lowercase letter to represent the recessive allele.
Individual Genotype
#1 aa
#3 aa
#4 Aa
#5 aa
iii) If individuals # 2 and 3 have another son what are the chances that this son will be affected?
50% (Aa x aa)
b)
6 7
ii) State the genotypes of individuals # 6-8 in the following table using the letter ”B”. Use the uppercase
letter to represent the dominant allele and lowercase letter to represent the recessive allele.
Individual Genotype
#6 Bb
#7 Bb
#8 bb
iii) If Individuals #6 and #7 have another daughter what are the chances that she will be affected.
75% (Aa x Aa).
Question 2
Assume that the individual marked with an asterisk (*) does not carry any allele associated with the affected
R
phenotype and that no other mutation spontaneously occurs. Also assume complete penetrance. Use “R or X ”
r
for the allele associated with the dominant phenotype, “r or X ” for the allele associated with the recessive
phenotype.
1 2
? ?
A B
a) What is the most likely mode of inheritance of this disease? Choose from: autosomal dominant, autosomal
recessive, X-linked dominant, X-linked recessive.
X linked recessive
Individuals Genotypes
R R R r
#1 X X or X X
R r
#3 X X
1
affected female Unaffected female
st
1 Pedigree * 4
a) State the most likely mode of inheritance for this disease. Choose from: autosomal dominant, autosomal
recessive, X-linked dominant, X-linked recessive.
autosomal recessive
b) Write all possible genotypes of the following individuals in the pedigree. Use the uppercase “A” for the allele
associated with the dominant phenotype and lowercase “a” for the allele associated with the recessive phenotype.
d) The following human pedigree shows a family affected by a different disease. Assume that the individuals
marked with an asterisk (*) do not carry any allele associated with the affected phenotype and that no other
mutation spontaneously occurs. Also assume complete penetrance. State the most likely mode of inheritance for
this disease.
X-linked recessive
e) Individual 3 from the 1st pedigree has a second marriage with Individual 6 from the 2nd pedigree. They have a
son and a daughter as shown below.
Individual 3 Individual 6 from
st nd
from 1 Pedigree 2 Pedigree
? ?
i) What would be the genotype of their son for the two disease genes?
r
Aa X Y
i) What would be the genotype of their daughter for the two disease genes?
R r
Aa X X
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