A geneticist discovers a male mouse with greatly enlarged testes in his laboratory colony. He suspects that this trait results from a new mutation that is either Y linked or autosomal dominant. How could he determine whether the trait is autosomal dominant or Y linked?
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A geneticist discovers a male mouse with greatly enlarged testes in his
laboratory colony. He suspects that this trait results from a new mutation
that is either Y linked or autosomal dominant. How could he determine
whether the trait is autosomal dominant or Y linked?
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- A young lady requested pre-marital genetic counselling because her sister had died in infancy of gangliosidosis, an autosomal recessive disease. What is the risk that this young lady has similarly affected offspring? What advice should be given?Now assume that the pedigree shown in question 1 shows the inheritance of a rare genetic disease. a) The disease is most likely autosomal dominant b) The disease is most likely autosomal recessive c) The disease is equally likely to be either autosomal dominant or autosomal recessive, but cannot be x-linked d) Cannot be determined from the information givenAchondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…
- A woman knows that her mother is a carrier of Kartagener’s syndrome (an autosomal recessive disorder). The woman does not know if either she or her husband are carriers. The couple wants to have a child, but is worried about whether or not they could have a child with Kartagener’s syndrome. Should the couple seek the advice of a genetic counselor? In other words, is there a chance they could have an affected child? If there is a chance, please make sure your answer includes the specific parental genotypes necessary to make this possible.Six months pregnant, an expectant mother had a routine ultrasound that showed that the limbs of the fetus were unusually short. Her physician suspected that the baby might have a genetic form of dwarfism called achondroplasia, an autosomal dominant trait occurring with a frequency of about 1 in 27,000 births. The parents were directed to a genetic counselor to discuss this diagnosis. In the conference, they learned that achondroplasia is caused by a mutant allele. Sometimes it is passed from one generation to another, but in 80 percent of all cases it is the result of a spontaneous mutation that arises in a gamete of one of the parents. They also learned that most children with achondroplasia have normal intelligence and a normal life span. 1. What information would be most relevant to concluding which of the two mutation origins, inherited or new, most likely pertains in this case? How does this conclusion impact on this couple’s decision to have more children? 2. It has been…The following pedigree represents the inheritance of an autosomal recessive disease in a certain family. 2 5 2 4 5 8 3 4. 6. 1 1- How many males are affected by the disease? 3- How many children did the couple Il-4 and Il-5 have? 4- How many sisters did III-8 have? 5- What is the genotype of III-8? 40
- Suppose a man carries a very uncommon dominant mutation for a deadly muscular disease that doesn't show up until people are usually over 50 years of age (he has the disease). He and his wife are expecting their first child--a girl. What is the probability she will also have the disease if... (1) it is autosomal(2) it is X-linked(3) it is Y-linked Explain each answer in detail. Assume the penetrance of the trait is 100%.Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?Cystic fibrosis in humans is caused by mutations in a single gene and is inherited as an autosomal (non-sex chromosome) recessive trait. An unaffected couple has two children. The first child has cystic fibrosis, and the second child is unaffected. What is the probability that the second child is a carrier (heterozygous) for the mutation that causes the disease? 2/3 1 1/2 3/4
- You are discussing the genetic pedigree of a client with a history of autosomal dominant disease in his family. You explain that while a recessive mutation requires both copies of the gene to be mutated in order to cause clinical disease, an autosomal dominant mutation can cause disease when only one copy of the gene is affected. Describe the different mechanisms by which dominance occurs, giving examples of each.Two related forms of muscular dystrophy—Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)—are both recessive, X-linked, single-gene conditions caused by point mutations, deletions, and insertion in the dystrophin gene. Each mutated form of dystrophin is one allele. Of the two diseases, DMD is much more severe. Given your knowledge of mutations, the genetic code, and translation, propose an explanation for why the two disorders differ greatly in severity.The attached image is a pedigree of a family with a history of sickle cell anemia (the individuals with the filled-in symbols have the disease and no new mutations are occurring in any individual). Sickle cell anemia is inherited in an autosomal recessive manner. What is the probability that the individual with the question mark (?) will get the disease? a) 1/4 b) 1/2 c) 2/3 d) 1