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 was incorrect about the information given to Sara and James? What is incorrect about the information given to Mary and Frank?

Galactosemia is an autosomal recessive disorder caused by the inability to metabolize galactose, a component of the lactose found in mammalian milk. Galactosemia can be partially managed by eliminating dietary intake of lactose and galactose. Amanda is healthy, as are her parents, but her brother Alonzo has galactosemia. Brice has a similar family history. He and his parents are healthy, but his sister Brianna has galactosemia. Amanda and Brice are planning a family and seek genetic counseling. Based on the information provided, complete the following activities and answer the questions.

Draw a pedigree that includes Amanda, Brice, and their siblings and parents. Identify the genotype of each person, using G and g to represent the dominant and recessive alleles, respectively.

Draw a pedigree containing two parents and four children. Both of the parents have AB blood type. The first child is type A, the second child is type AB, and the third child is type B.

What is the name of the genetic phenomenon producing this observation?

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?