A SNP is identified in a genome-wide association study that is significantly associated with a disease and which has an odds ratio of 3 for that trait. This means that:

-a variant linked to that SNP is three times as likely to be found in affected individuals than the common variant.

-that variant is three times as likely to be found in affected individuals than the common variant.

-a variant linked to that SNP increases risk of developing the disease three-fold.

-that variant increases risk of developing the disease three-fold.

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Tod ThielLv2

19 Jan 2019

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1.) Duchenne muscular dystrophy in humans is sex- linked, and the allele causing it (d) is recessive to the allele for the normal condition (D). Thise severe affliction usually begins to express itself between the ages of 3 and 5, and is characterized by muscle deterioration. The disease generally culminates in the death of affected individuals during the teenage years.

A man and woman have three your children, two boys, age 2 and 5 and one girl, age 1. The older son has just been diagnosed as having Duschenne muscular dystrophy. The parents have been told that this is an inherited condition and they are concerned about their other children developing this disorder. What is the likelihood that their other children will be affected?

Which of the following statements about genome-wide associationstudies (GWAS) is false?

A. GWAS can be used even if more than one gene can cause thedisease of interest.
B. Studies using GWAS only examine SNPs that occur very rarely(<0.001%) in the population, as those SNPs are most likely tocause disease.
C. GWAS use SNPs to compare populations of people with diseaseand people without disease to look for SNPs more likely to bepresent in those with disease.
D. Sometimes GWAS will identify SNPs that are associated with adisease but these SNPs do not affect the gene product of the genethat causes the disease.

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Scientists have been studying the effects of Starkagaren Disease, which is regulated by the stgn gene, in cultured normal and breast cancer cell lines. They have fused a yellow fluorescent probe to the end of the stgn gene to study the disease more closely. By adding a probe, it will create a hybrid protein that emits a yellow color under a blue laser. This hybrid protein is known as a fluorescentâtagged protein, meaning that the protein itself will function and fold normally but it will be tagged with a yellow fluorescent probe (YFP) at the end. This allows the scientists to follow the protein through the cell cycle. They find that the stgn protein normally binds to centromeres in normal cells. After looking at cells at various stages of the cell cycle, they find that compared to normal cells, the breast cancer cells that express the Starkagaren Disease display abnormal nuclei, some appear very large, some have tiny nuclei, and some cells do not have a nucleus at all.

Scientists have figured out that Starkagaren Disease is passed on through a mutation in the germ cells. The mutation is found on the chromosome 12 so either the mother or father can pass on the gene. But in order for the disease to express, both parents need to have the mutation. You are a genetic counselor talking to two individuals that have familial history of either a grandparent or aunt or uncle with the disease, they would like you to explain their chances of having a child that could possible inherit the disease.

a) Would the defect be found in homologous chromosomes or sister chromatids, or both? Explain.

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