BIOLOGY 1A03 Lecture Notes - Lecture 5: Sickle-Cell Disease, Zygosity, Causative

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BIOLOGY 1A03 Full Course Notes
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BIOLOGY 1A03 Full Course Notes
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Linked snps: no w/in gene, don"t affect protein fn but serve as marker. Causative snps: affect way protein fns correlating w disease (in coding/regulatory regions: cftr not working is due to single causative snp, sickle cell anemia: Genotype 1: hba/hba, no symptoms of sickle cell anemia, homozygous (appropriate snps) Genotype 2: hbs/hbs, symptoms of sickle cell, no fn b-globin protein, homozygous (causative. Genotype 3: hba/hbs, no symptoms but cells exhibit both variants, heterozygous (both appropriate/causative snps) More sickling in cells during times of stress (most notable when in need of high amounts of oxygen like high altitudes) Coding snp: changed amino acid & sequence. Variation of gene copy: fluorescence proportional to higher. If you don"t have appropriate much, shouldn"t be binding in this area, so ve control: set down oglionucleotide. Snp related to complementary snps (if c also g bc cg bind: homozygous cg: fluorescence in wells only with c or g, heterozygous cg/at: fluorescence in wells with c, g,

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