13. Mendelian Genetics

Hemochromatosis is an inherited disease caused by a recessive allele. If a woman and her husband, who are both carriers, have three children, what is the probability of each of the following?

a. All three children are of normal phenotype

b. One or more of the three children have the disease

c. All three children have the disease

d. At least one child is phenotypically normal

Among heritable diseases, which genotype can be present in an individual without causing a disease phenotype in that individual?

a. Heterozygous for a dominant disease

b. Homozygous for a dominant disease

c. Heterozygous for recessive disease

d. Homozygous for a recessive disease

e. All of the above

Karen and Steve each have a sibling with sickle-cell disease. Neither Karen nor Steve nor any of their parents have the disease, and none of them have been tested to see if they carry the sickle-cell allele. Based on this incomplete information, calculate the probability that if this couple has a child, the child will have sickle-cell disease.

The pedigree below traces the inheritance of alkaptonuria, a biochemical disorder. Affected individuals, indicated here by the colored circles and squares, are unable to metabolize a substance called alkapton, which colors the urine and stains body tissues. Does alkaptonuria appear to be caused by a dominant allele or by a recessive allele? Fill in the genotypes of the individuals whose genotypes can be deduced. What genotypes are possible for each of the other individuals?

Imagine that you are a genetic counselor, and a couple planning to start a family comes to you for information. Charles was married once before, and he and his first wife had a child with cystic fibrosis. The brother of his current wife, Elaine, died of cystic fibrosis. What is the probability that Charles and Elaine will have a baby with cystic fibrosis? (Neither Charles, Elaine, nor their parents have cystic fibrosis.)

You have crossed two Drosophila melanogaster individuals that have long wings and red eyes—the wild-type phenotype. In the progeny, curved wings and lozenge eyes mutant phenotypes appear as follows According to these data, is the curved-wing allele autosomal recessive, autosomal dominant, sex-linked recessive, or sex-linked dominant?

You have crossed two Drosophila melanogaster individuals that have long wings and red eyes—the wild-type phenotype. In the progeny, curved wings and lozenge eyes mutant phenotypes appear as follows. Is the lozenge-eyed allele autosomal recessive, autosomal dominant, sex-linked recessive, or sex-linked dominant?