A woman's father has ornithine transcarbamylase deficiency (OTD), an X-linked recessive disorder producing mental deterioration if not properly treated. The woman's mother is homozygous for the wild-type allele.


Identify a male with whom the woman could produce a daughter with OTD.

In Drosophila subobscura, the presence of a recessive gene called grandchildless (gs) causes the offspring of homozygous females, but not those of homozygous males, to be sterile. Can you offer an explanation as to why females and not males are affected by the mutant gene?

On the Drosophila X chromosome, the dominant allele y⁺ produces gray body color and the recessive allele y produces yellow body. This gene is linked to one controlling full eye shape by a dominant allele lz⁺ and lozenge eye shape with a recessive allele lz. These genes recombine with a frequency of approximately 28%. The Lz gene is linked to gene F controlling bristle form, where the dominant phenotype is long bristles and the recessive one is forked bristles. The Lz and F genes recombine with a frequency of approximately 32%.

Can any cross reveal genetic linkage between gene Y and gene F? Why or why not?

On the Drosophila X chromosome, the dominant allele y⁺ produces gray body color and the recessive allele y produces yellow body. This gene is linked to one controlling full eye shape by a dominant allele lz⁺ and lozenge eye shape with a recessive allele lz. These genes recombine with a frequency of approximately 28%. The Lz gene is linked to gene F controlling bristle form, where the dominant phenotype is long bristles and the recessive one is forked bristles. The Lz and F genes recombine with a frequency of approximately 32%.

Using any genotypes you choose, design two separate crosses, one to test recombination between genes Y and Lz and the second between genes Lz and F. Assume 1000 progeny are produced by each cross, and give the number of progeny in each outcome category. (In setting up your crosses, remember that Drosophila males do not undergo recombination.)

A woman's father has ornithine transcarbamylase deficiency (OTD), an X-linked recessive disorder producing mental deterioration if not properly treated. The woman's mother is homozygous for the wild-type allele.

What proportion of daughters produced by the woman and the man are expected to have OTD? What proportion of sons of the woman and the man are expected to have OTD?

A woman's father has ornithine transcarbamylase deficiency (OTD), an X-linked recessive disorder producing mental deterioration if not properly treated. The woman's mother is homozygous for the wild-type allele.

If the woman has a daughter with a man who does not have OTD, what is the chance the daughter will be a heterozygous carrier of OTD? What is the chance the daughter will have OTD?

A woman's father has ornithine transcarbamylase deficiency (OTD), an X-linked recessive disorder producing mental deterioration if not properly treated. The woman's mother is homozygous for the wild-type allele.

If the woman has a son with a man who does not have OTD, what is the chance the son will have OTD?

A woman's father has ornithine transcarbamylase deficiency (OTD), an X-linked recessive disorder producing mental deterioration if not properly treated. The woman's mother is homozygous for the wild-type allele.

What is the woman's genotype? (Use D to represent the dominant allele and d to represent the recessive allele.)

In humans, hemophilia A (OMIM 306700) is an X-linked recessive disorder that affects the gene for factor VIII protein, which is essential for blood clotting. The dominant and recessive alleles for the factor VIII gene are represented by H and h. Albinism is an autosomal recessive condition that results from mutation of the gene producing tyrosinase, an enzyme in the melanin synthesis pathway. A and a represent the tyrosinase alleles. A healthy woman named Clara (II-2), whose father (I-1) has hemophilia and whose brother (II-1) has albinism, is married to a healthy man named Charles (II-3), whose parents are healthy. Charles's brother (II-5) has hemophilia, and his sister (II-4) has albinism. The pedigree is shown below.

If Clara and Charles's first child has albinism, what is the chance the second child has albinism? Explain why this probability is higher than the probability you calculated in part (b).