Factors Affecting The Infection Of Chromosome 16

1435 WordsDec 11, 20166 Pages
Of the above variations, there are a few particular cases to be noted. Firstly, on locus RFWD3 there is a nonsynonymous SNV on position 74670458 of chromosome 16 (rs4888262) where C is changed to T. A GWAS study has associated this variation with testicular germ cell cancer, a disease that has a strong genetic association – genetics is responsible for 25% of susceptibility. The disease varies by population; testicular germ cell cancer affects European men far more than African (Chung et al., par. 2). RFWD3 is important ligase that protects the DNA from damage (Chung et al., par. 9). The RDH12 locus on chromosome 14 at position 68191838 shows a frameshift insertion in which a C is placed in the genome, spanning rs4901408 to rs4902610. Unfortunately frameshift mutations tend to have dramatic effects because deleting or inserting a single base disrupts the subsequent reading frame; codons may no longer code for the correct protein, leading to drastically different function. For this particular case a GWAS study has associated this mutation with autosomal dominant retinitis pigmentosa. This means that if offspring has only one inherited mutated copy of the allele from a parent, then the offspring is affected by the disease despite also having a normal copy of the allele from the other parent (Medline Plus). Retinal dehydrogenase 12 is expressed in the retina’s photoreceptor cells; disrupting this locus is extremely harmful (Fingert et al., 1304). The frameshift
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