polymorphisms. Three of these fragments also carry an allele of a gene associated with an inherited disorder (indicated by D). As a clinical geneticist, you would like to use these SNP markers to determine whether an individual is at increased risk of getting the disease. Which of these SNPs would assist you in that determination? Which would not? Justify your answers. AGC DG A A CDT AGC DG A ATD T A T m

GQ16

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(19) WhatsApp 0 (542) H.E.R. - Changes X Why is it not possible X al%20School/OneDrive/Documents/Grade%2012%20variation%20and%20evolution%20 (D Page view A Read aloud V Draw Hig ii). iii). 13) 4. Sickle cell anemia is a favorable mutation. There is only one amino acid dillerent in Sickle hemoglobin (S) as compared with normal adult hemoglobin (A). Persons with sickle cell trait (AS) are able to survive in malarious areas. i) A couple each having sickle cell trait have five children. What is the probability thas they will have a child with sickle cell disease?

Q11. One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and ensure that you click to reveal the transcript table. Then use the information in the table to answer the following question.   What is the NCBI accession number (including the version) of the RefSeq Match for the first transcript (CACNA1S-201)?   Answer: NCBI accession number (including the version) of the RefSeq Match for the first transcript (CACNA1S-201) is ...

LS1-1 Which of the following can you conclude about the hemoglobin in individuals with sickle cell anemia? Choose two answers that apply. O The amino acids sequenced for the abnormal hemoglobin replaced a Glucine (Glu) for a Leucine (Leu). The amino acids sequenced for the abnormal hemoglobin was the same as it was for the normal hemoglobin. There was an error in the transcription from DNA to RNA. O The amino acids sequenced for the abnormal hemoglobin replaced a Glucine (Glu) for a Valine (Val). There was an error in the nucleotide sequence in the original DNA strand.

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. Discuss how Genome-wide association studies (GWAS) can be used to identify genetic risk loci for (a) diseases with complex inheritance and (b) pharmacogenomic genotype-phenotype associations. Draw on specific examples and experimental evidence in your discussion.

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