Among mammals, measurements of the rate of generation of autosomal recessive mutations have been madealmost exclusively in mice, while many measurementsof the rate of generation of dominant mutations havebeen made both in mice and in humans. What do youthink is the reason for this difference?

Among mammals, measurements of the rate of generation of autosomal recessive mutations have been madealmost exclusively in mice, while many measurementsof the rate of generation of dominant mutations havebeen made both in mice and in humans. What do youthink is the reason for this difference?

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Description: Among mammals, measurements of the rate of generation of autosomal recessive mutations have been madealmost exclusively in mice, while many measurementsof the rate of generation of dominant mutations havebeen made both in mice and in humans. What do

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter12: Genes And Cancer

Section: Chapter Questions

Problem 1QP: Theodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What...

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A rare dominant mutation expressed at birth was studiedin humans. Records showed that six cases were discoveredin 40,000 live births. Family histories revealed that in twocases, the mutation was already present in one of the parents.Calculate the spontaneous mutation rate for this mutation.What are some underlying assumptions that may affect ourconclusions?
In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?
When mice carrying the Avy allele exhibit a darker coat, thisphenotype is thought to be caused by dietary factors thatresult ina. a greater level of DNA methylation and a decrease in theexpression of the Agouti gene.b. a lower level of DNA methylation and a decrease in theexpressionof the Agouti gene.c. a greater level of DNA methylation and the overexpressionof the Agouti gene.d. a lower level of DNA methylation and the overexpression ofthe Agouti gene.
Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
Theodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What lines of evidence substantiate this prediction?
The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product, embryogenesis isnot completed. Consider a cross between a female heterozygousfor the bicoid mutation (bcd+/ bcd-) and a homozygousmale(bcd-/ bcd-). How is it possible for a male homozygous for the mutationto exist?
Over a period of several years, a large hospital kepttrack of the number of births of babies displaying thetrait achondroplasia. Achondroplasia is a very rareautosomal dominant condition resulting in dwarfismwith abnormal body proportions. After 120,000births, it was noted that 27 babies had been born withachondroplasia. One physician was interested in determining how many of these dwarf babies resultedfrom new mutations and whether the apparent mutation rate in this geographical area was higher thannormal. He looked up the families of the 27 dwarfbirths and discovered that four of the dwarf babieshad a dwarf parent. What is the apparent mutationrate of the achondroplasia gene in this population? Isit unusually high or low?
Tay–Sachs disease is caused by loss-of-function mutations ina gene on chromosome 15 that encodes a lysosomal enzyme.Tay–Sachs is inherited as an autosomal recessive condition.Among Ashkenazi Jews of Central European ancestry, about1 in 3600 children is born with the disease. What fraction ofthe individuals in this population are carriers?
Why don’t all loss-of-function mutations that are recessive at the cellular level behave as dominants at theorganismal level? Is this property restricted to tumorsuppressor gene mutations?
Researchers have identified a gene in humans that (when mutant)causes severe dwarfism and mental impairment. This disorder isinherited in an autosomal recessive manner, and the mutant alleleis known to be a loss-of-function mutation. The same gene hasbeen found in mice, although a mutant version of the gene has notbeen discovered in mice. To develop drugs and an effective therapyto treat this disorder in humans, it would be experimentallyuseful to have a mouse model. In other words, it would be desirableto develop a strain of mice that carry the mutant allele in thehomozygous condition. Experimentally, how would you developsuch a strain?
Imagine that you caught a female albino mouse inyour kitchen and decided to keep it for a pet. A fewmonths later, while vacationing in Guam, you caughta male albino mouse and decided to take it home forsome interesting genetic experiments. You wonderwhether the two mice are both albino due to mutations in the same gene. What could you do to find outthe answer to this question? Assume that both mutations are recessive.
Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called collagen (type 3 A1). Collagenis found in the extracellular matrix that plays an important role inthe formation of skin, joints, and other connective tissues. Peoplewith Ehler-Danlos syndrome have extraordinarily flexible skin andvery loose joints. The following pedigree contains several individualsaffected with this syndrome, shown with black symbols. Basedon this pedigree, does the syndrome follow autosomal recessive,autosomal dominant, X-linked recessive, or X-linked dominantinheritance? Explain your reasoning.