A genetic variant is associated with low penetrance but high expressivity. This means the variant is associated with a: High chance of showing disease symptoms but symptoms will be mild. High chance of showing disease symptoms and symptoms will be severe. Low chance of showing disease symptoms and symptoms will be mild. Low chance of showing disease symptoms but symptoms will be severe. High chance of showing disease symptoms and disease caused by a rare mutation.
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- A SNP marker is found linked to the cystic fibrosis gene. Cystic fibrosis is an autosomal recessive disease. A couple plans to have children together and both are carriers for the cystic fibrosis gene but do not have the disease themselves. They are both A1/A2 at the SNP and the A2 allele is linked with the allele causing cystic fibrosis. Assuming no crossing over between the SNP and the disease gene, what genotypes in the offspring could result that would cause cystic fibrosis? O A1-cf, A1 - cf O A2-cf, A2 - cf O A1 - CF, A1 - CF O A1 - CF, A2 - cfThere are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discussAn experimental assay for the blood-clotting protein called factorIX is available. A blood sample was obtained from each individual in the following pedigree. The amount of factor IX protein, shown within each symbol on the pedigree, is expressed as a percentage of the average amount observed in individuals who do not carry a mutant copy of the gene.
- A RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?In Figure 6-2, explain how the mutant polypeptide actsas a spoiler and what its net effect on phenotype is.A 20-year-old woman comes to your genetic counselling center because she knows that Huntington disease occurs in members of her family. Huntington is an autosomal dominant disease that often becomes apparent around 35–40 years of age. Her paternal grandfather was afflicted, but so far her 41 year old father shows no symptoms. Her two great-great grandmothers on her father's side were healthy well into their 90s, and one of her great-great grandfathers died of unknown causes at 45. Testing for Huntington disease is extremely expensive, but she is concerned that she may fall victim to this disease and wants to plan her life accordingly. After examining her pedigree you advise her to: not get tested because her father is only a carrier and it is very unlikely her mother is a carrier. not get tested because there is no possibility that she is homozygous. get tested because her father could be a carrier. not get tested because only males in her family get the disease. not get tested…
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- In humans, dosage compensation is accomplished by: inactivating one X chromosome in female somatic cells inactivating one homolog from each homologous pair of chromosomes in female somatic cells inactivating the Y chromosome in male somatic cells increasing gene expression from the X chromosome in male somatic cellThe following genotypes of two independently assorting autosomal genes determine coat color in rats:A-B- (gray); A-bb (yellow); aaB-(black); aabb (cream)A third gene pair on a separate autosome determines whetherany color will be produced. The CC and Cc genotypes allow coloraccording to the expression of the A and B alleles. However,the cc genotype results in albino rats regardless of the A and Balleles present. Determine the F1 phenotypic ratio of the followingcrosses: (a)AAbbCC * aaBBcc; (b) AaBBcc * AABbcc;(c) AaBbCc * AaBbcc.Which of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)? It exhibits variable expressivity. The expression of this disease depends on the environment. If the individual removes phenylalanine from their diet they can avoid the disease entirely. PKU alleles are epistatic to alleles of another gene, which acts downstream in phenylalanine metabolism. These individuals supplement their diets with enzymes that break-down phenylalanine.