Achondroplasia, the most common type of human dwarfism, affects 1 in 15,000 to 1 in 40,000 individuals. Many cases of achondroplasia are the result of a spontaneous mutation. After the mutation occurs, however, it becomes an autosomal dominant trait. On a TV talk show, the audience
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- Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. What information would be most relevant to concluding whichof the two mutation origins, inherited or new, most likelypertains in this case? How does this conclusion impact on thiscouple’s decision to have more children?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?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.
- Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey showed that people heterozygousfor mutations at the BLM locus are at increased risk of colon cancer.Suppose you are a genetic counselor. A young woman is referred to youwhose mother has Bloom syndrome; the young woman’s father has nofamily history of Bloom syndrome. The young woman asks whether sheis likely to experience any other health problems associated with herfamily history of Bloom syndrome. What advice would you give her?In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction formAchondroplasia is a rare form of dwarfism. It is caused by anautosomal dominant mutation within a single gene. Among1,422,000 live births, the number of babies born with achondroplasiawas 31. Among those 31 babies, 18 of them had one parentwith achondroplasia. The remaining babies had twounaffected parents. What is the mutation frequency for this disorderamong these 1,422,000 babies? What is the mutation rate forachondroplasia?
- 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 and very loose joints. The pedigree below contains several individualsaffected with this syndrome, shown with black symbols. Based onthis pedigree, does the syndrome appear to follow autosomalrecessive, autosomal dominant, X-linked recessive, or X-linkeddominant inheritance? Explain your reasoning.people with osteogenesis imperfecta have a dominant mutation in one of the two genes that produce type 1 collagen. people with OI have weak bones, bkuish color in teh whites of eyes, and a variety of afflictions that cause weakness in their joint and teeth. However, some people can carry the mutation but have no symptoms. Thus, families can unknowingly transmit the mutation but does not express the OI phenotype. This is an example of which of the following? a. incomplete penetrance b. variable expressivity c. epistasis d. incomplete dominanceA 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?
- Null mutations are valuable genetic resources becausethey allow a researcher to determine what happens to anorganism in the complete absence of a particular protein. However, it is often not a trivial matter to determinewhether a mutation represents the null state of the gene.a. Geneticists sometimes use the following test forthe nullness of an allele in a diploid organism: If theabnormal phenotype seen in a homozygote for theallele is identical to that seen in a heterozygote(where one chromosome carries the allele in question and the homologous chromosome is known tobe completely deleted for the gene) then the alleleis null. What is the underlying rationale for thistest? What limitations might there be in interpreting such a result?b. Can you think of other methods to determinewhether an allele represents the null state of a particular gene?Diamond–Blackfan anemia (DBA) is a rare, dominantgenetic disorder characterized by bone marrow malfunction,birth defects, and a predisposition to certaincancers. Infants with DBA usually develop anemia in the firstyear of life, have lower than normal production of red blood cellsin their bone marrow, and have a high risk of developing leukemiaand bone cancer. At the molecular level, DBA is causedby mutations in any one of 10 genes that encode ribosomalproteins. The first-line therapy for DBA is steroid treatment,but more than half of affected children develop resistance tothe drugs and in these cases, treatment is halted. DBA can betreated successfully with bone marrow or stem cell transplantsfrom donors with closely matching immune system markers.Transplants from unrelated donors have significant levels ofcomplications and mortality. Given that a faulty ribosomal protein is the culprit and causesDBA, discuss the possible role of normal ribosomal proteins.Why might bone marrow cells be…Diamond–Blackfan anemia (DBA) is a rare, dominantgenetic disorder characterized by bone marrow malfunction,birth defects, and a predisposition to certaincancers. Infants with DBA usually develop anemia in the firstyear of life, have lower than normal production of red blood cellsin their bone marrow, and have a high risk of developing leukemiaand bone cancer. At the molecular level, DBA is causedby mutations in any one of 10 genes that encode ribosomalproteins. The first-line therapy for DBA is steroid treatment,but more than half of affected children develop resistance tothe drugs and in these cases, treatment is halted. DBA can betreated successfully with bone marrow or stem cell transplantsfrom donors with closely matching immune system markers.Transplants from unrelated donors have significant levels ofcomplications and mortality. While a stem cell transplant from an unaffected donor is currentlythe only cure for DBA, genome-editing technologies mayone day enable the correction of…