2. Mendel's Laws of Inheritance

Alkaptonuria is an infrequent autosomal recessive condition. It is first noticed in newborns when the urine in their diapers turns black upon exposure to air. The condition is caused by the defective transport of the amino acid phenylalanine through the intestinal walls during digestion. About 4 people per 1000 are carriers of alkaptonuria.
Sara and James had never heard of alkaptonuria and were shocked to discover that their first child had the condition. Sara's sister Mary and her husband, Frank, are planning to have a family and are concerned about the possibility of alkaptonuria in one of their children.
The four adults (Sara, James, Mary, and Frank) seek information from a neighbor who is a retired physician. After discussing their family histories, the neighbor says, 'I never took genetics, but I know from my many years in practice that Sara and James are both carriers of this recessive condition. Since their first child had the condition, there is a very low chance that the next child will also have it, because the odds of having two children with a recessive condition are very low. Mary and Frank have no chance of having a child with alkaptonuria because Frank has no family history of the condition.' The two couples each have babies and both babies have alkaptonuria.

What are the genotypes of the four adults?

The accompanying pedigree shows a family in which one child (II-1) has an autosomal recessive condition. On the basis of this fact alone, provide the following information.

What is the chance that among the three children in generation II who have the dominant phenotype, one of them is AA and two of them are Aa? (Hint: Consider all possible orders of genotypes.)

The accompanying pedigree shows a family in which one child (II-1) has an autosomal recessive condition. On the basis of this fact alone, provide the following information.

What is the probability that all three of the children in generation II who have the dominant phenotype are Aa?

The accompanying pedigree shows a family in which one child (II-1) has an autosomal recessive condition. On the basis of this fact alone, provide the following information.

What are the probabilities for each of the possible genotypes for II-2, II-3, and II-4?

The accompanying pedigree shows a family in which one child (II-1) has an autosomal recessive condition. On the basis of this fact alone, provide the following information.

Using the same alleles, give the possible genotypes for II-2, II-3, and II-4. <>

The accompanying pedigree shows a family in which one child (II-1) has an autosomal recessive condition. On the basis of this fact alone, provide the following information.

Using A for the dominant allele and a for the recessive allele, give the genotypes for I-1, I-2, and II-1. <>

Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:

Any available information about the population(s) in which the disease is most common.

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.

From a genetic perspective, what is the value of the information obtained by genetic testing of the type described?

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.

Do you personally think you would participate in the kind of carrier genetic testing described if you were a member of a population targeted for such testing?

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.

In a broader sense, what is the value of a community-based effort targeting specific populations for selected diseases?

In humans, the ability to bend the thumb back beyond vertical is called hitchhiker's thumb and is dominant to the inability to do so (OMIM 274200; see Problem 41). Also, the presence of attached earlobes is recessive to unattached earlobes (OMIM 128900).

Using all available and willing members of your family, or members of another family if yours is not easily accessible, trace the transmission of both traits in a pedigree. Use allelic symbols H and h for the thumb and E and e for earlobes, and identify the genotypes for each family member as completely as possible. Bring the pedigree back to share with your group.

In humans, the ability to bend the thumb back beyond vertical is called hitchhiker's thumb and is dominant to the inability to do so (OMIM 274200; see Problem 41). Also, the presence of attached earlobes is recessive to unattached earlobes (OMIM 128900).

Check your own phenotype and those of several friends or classmates.