2. Mendel's Laws of Inheritance

Pedigrees

Open Question
Draw all possible conclusions concerning the mode of inheritance of the trait portrayed in each of the following limited pedigrees. (Each of the four cases is based on a different trait.)b.
Open Question
Draw all possible conclusions concerning the mode of inheritance of the trait portrayed in each of the following limited pedigrees. (Each of the four cases is based on a different trait.)a.
Open Question
For decades scientists have been perplexed by different circumstances surrounding families with rare, early-onset auditory neuropathy (deafness). In some families, parents and grandparents of the proband have normal hearing, while in other families, a number of affected (deaf) family members are scattered throughout the pedigree, appearing in every generation. Assuming a genetic cause for each case, offer a reasonable explanation for the genetic origin of such deafness in the two types of families.
Open Question
A 'wrongful birth' case was recently brought before a court in which a child with Smith–Lemli–Opitz syndrome was born to apparently healthy parents. This syndrome is characterized by a cluster of birth defects including cleft palate, and an array of problems with the reproductive and urinary organs. Originally considered by their physician as having a nongenetic basis, the parents decided to have another child, who was also born with Smith–Lemli–Opitz syndrome. In the role of a genetic counselor, instruct the court about what occurred, including the probability of the parents having two affected offspring, knowing that the disorder is inherited as a recessive trait.
Open Question
A 'wrongful birth' case was recently brought before a court in which a child with Smith–Lemli–Opitz syndrome was born to apparently healthy parents. This syndrome is characterized by a cluster of birth defects including cleft palate, and an array of problems with the reproductive and urinary organs. Originally considered by their physician as having a nongenetic basis, the parents decided to have another child, who was also born with Smith–Lemli–Opitz syndrome. In the role of a genetic counselor, instruct the court about what occurred, including the probability of the parents having two affected offspring, knowing that the disorder is inherited as a recessive trait.Draw a pedigree of the families of this couple, showing the relevant individuals.
Open Question
Consider the three pedigrees below, all involving a single human trait.Given your conclusions in part (a), indicate the genotype of the following individuals:II-1, II-6, II-9If more than one possibility applies, list all possibilities. Use the symbols A and a for the genotypes.
Open Question
Consider the three pedigrees below, all involving a single human trait.For each combination that you excluded, indicate the single individual in generation II (e.g., II-1, II-2) that was most instrumental in your decision to exclude it. If none were excluded, answer 'none apply.'
Open Question
Consider the three pedigrees below, all involving a single human trait.Which combination of conditions, if any, can be excluded?dominant and X-linkeddominant and autosomalrecessive and X-linkedrecessive and autosomal
Open Question
The gene controlling the Xg blood group alleles (Xg⁺ and Xg⁻) and the gene controlling a newly described form of inherited recessive muscle weakness called episodic muscle weakness (EMWX) (Ryan et al., 1999) are closely linked on the X chromosome in humans at position Xp22.3 (the tip of the short arm). A male with EMWX who is Xg⁻ marries a woman who is Xg⁺ and they have eight daughters and one son, all of whom are normal for muscle function, the male being Xg⁺ and all the daughters being heterozygous at both the EMWX and Xg loci. Following is a table that lists three of the daughters with the phenotypes of their husbands and children.Create a pedigree that represents all data stated above and in the following table.
Open Question
Two mothers give birth to sons at the same time at a busy urban hospital. The son of mother 1 is afflicted with hemophilia, a disease caused by an X-linked recessive allele. Neither parent has the disease. Mother 2 has a normal son, despite the fact that the father has hemophilia. Several years later, couple 1 sues the hospital, claiming that these two newborns were swapped in the nursery following their birth. As a genetic counselor, you are called to testify. What information can you provide the jury concerning the allegation?
Open Question
The accompanying pedigree below shows a family in which an autosomal recessive disorder is present. Family members I-2 and II-2 are affected by the disorder and have the genotype dd. A pregnancy involving II-4 has just undergone genetic testing for a VNTR that is linked to the disease gene. The VNTR has a recombination frequency of r = 20 with the disease gene. The VNTR has two alleles, V₁ and V₂. The gel electrophoresis patterns for each family member are shown, including the VNTR genotype for II-4. Based on the information given, answer the following questions about the family.Excluding II-4, what is the genotype of each family member for the disease gene?
Open Question
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.
Open Question
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?
Open Question
The following pedigree is characteristic of an inherited condition known as male precocious puberty, where affected males show signs of puberty by age 4. Propose a genetic explanation of this phenotype.
Open Question
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?