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?

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?

Name: Tay–Sachs disease is caused by loss-of-function mutations ina gene on
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: 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

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

See similar textbooks

Similar questions

Sickle-cell anemia is a recessive autosomal disorderthat is caused by an amino acid substitution in theβ-hemoglobin protein. The DNA mutation underlyingthis substitution is a SNP that alters a GAG codon forthe amino acid glutamate to a GTG that codes a valine.The frequency of sickle-cell anemia among AfricanAmericans is about 1/400. What is the frequency ofthis GTG codon in the β-hemoglobin gene amongAfrican Americans?
Tay-Sachs disease is caused by loss of function mutation in a gene on chromosome 15 that codes for an enzyme. The disease is an inherited autosomal recessive condition which is found amongst Ashkenazi Jews of Central European origin. In this population, 2 in 4,900 children are born with the disease. What proportion of the population are carriers (heterozygotes) for this disease? ALL WORKING MUST BE SHOWN
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.
Figure 1-15 shows the family tree, or pedigree, for LouiseBenge (Individual VI-1) who suffers from the diseaseACDC because she has two mutant copies of the CD73gene. She has four siblings (VI-2, VI-3, VI-4, and VI-5)who have this disease for the same reason. Do all of the10 children of Louise and her siblings have the samenumber of mutant copies of the CD73 gene, or mightthis number be different for some of the 10 children?
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.
Tay-Sachs disease is caused by loss-of-function mutations in a gene on chromosome 15 thatencodes a lysosomal enzyme. Tach-Sachs is inherited as a autosomal recessive conidition.Among Ashkenazi Jews of central European ancestry, about 1 in 3600 children is born withthe disease. What fraction of the individuals in this population are carriers? (Assume thepopulation is in Hardy-Weinberg equilibrium)
Tay Sachs is a rare autosomal recessive disorder that causes mental and physical disabilities leading to death in infants. Affected individuals are lacking the enzyme hexosaminidase, causing lipids to build up in the brain.The HEXA gene on chromosome 15 codes for hexosaminidase, and a four base pair insertion in the gene results in an altered reading frame and non-functional enzyme being produced. Individuals who are carriers (heterozygotes) of the Tay-Sachs allele are not affected by the disease but appear to have increased protection against tuberculosis.The incidence of Tay-Sachs disease is much higher among Ashkenazi Jews originating from Eastern Europe than the general population of the United States. About 1 in 3 500 babies of Ashkenazi Jewish heritage are born with Tay-Sachs disease and about 1 in 30 Ashkenazi Jews are carriers compared to about 1 in 320 000 babies born with the disease and about 1 in 300 carriers in the general United States population. Ashkenazi Jews living in…
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?
A female patient 19 years old, whose symptoms areanemia and internal bleeding due to a massive buildupof leukemic white blood cells, is diagnosed withchronic myelogenous leukemia (CML). Karyotypeanalysis shows that the leukemic cells of this patientare heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of thenormal, nonleukemic cells of this patient contain thetranslocation. Which of the following statements istrue and which is false?a. The translocation results in the inactivation (loss offunction) of a tumor-suppressor gene.b. The translocation results in the inactivation (loss offunction) of an oncogene.c. There is a 50% chance that any child of this patientwill have CML.d. This patient is a somatic mosaic in terms of thekaryotype.e. DNA extracted from leukemic cells of this patient,if taken up by normal mouse tissue culture cells,could potentially transform the mouse cells intocells capable of causing tumors.f. The normal function of the…
One of the most famous cases of an X-linked recessive mutation in humans is that of hemophilia found in the descendants of Britain’s Queen Victoria. The pedigree of the royal family indicates that Victoria was heterozygous for the trait; however, her father was not affected, and no other member of her maternal line appeared to carry the mutation. What are some possible explanations of how the mutation arose? What types of mutations could lead to the disease?
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 form
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?