Biology 3592A Lecture Notes - Lecture 13: Proband, Pleiotropy, Zygosity
1 Nov 2016
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3 single gene disprders classic mendelian super easy and quick to identify complex hard to identify what is happening b/c so much going on. 1 or 2 mutant alleles that leads to phenotype. Different inheritance pattern based on where it is (x chrome, y chrome, autosomal, mito) recessive not expressed in heterozygous, only in homo do we see. Genotype sequence of alleles (snp, indel etc) Here: mutant alleles = deleterious (some cases where it is beneficial but here not) Hemizygous only need to receive 1 recessive allele on x chrome and male would compound phenotypically look the same no matter that 2 knocked out express trait. (cid:374)o(cid:449) does(cid:374)"t o(cid:374)ly i(cid:374)(cid:272)lude si(cid:374)gle ge(cid:374)e disorders but complex too. 8 si(cid:374)gle ge(cid:374)e disorders do(cid:374)"t affe(cid:272)t (cid:373)a(cid:374)y ppl (cid:271)ut se(cid:448)ere phe(cid:374)otypes therefore we consider them to be pediatric disorders. Although they"re se(cid:448)ere, easy to ide(cid:374)tify techniques to look at markers in genome to see what is involved in this disorder.
