BIO 2133 Lecture Notes - Lecture 4: Haploinsufficiency, Start Codon, Lactase

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Gene: e(cid:448)er(cid:455)o(cid:374)e has the ge(cid:374)es (cid:271)ut people do(cid:374)"t e(cid:454)press e(cid:448)er(cid:455) phe(cid:374)ot(cid:455)pe i. e e(cid:448)er(cid:455)o(cid:374)e has the ge(cid:374)e (cid:862)to get dru(cid:374)k(cid:863) (cid:271)ut (cid:374)ot e(cid:448)er(cid:455)o(cid:374)e e(cid:454)presses it phenotype physical or observable characteristic (i. e speed, colour) Allele: variations of a gene, codes for different phenotypes (not the same code); allele for a specific gene are always found on the same locus. Each human carries two alleles at a time, but there are many different kinds of alleles for a gene. Dominant vs. recessive allele dependent on if the allele is expressed or not and whether or not its functional; each case is a little different though. Ter(cid:373)s do(cid:373)i(cid:374)a(cid:374)t a(cid:374)d re(cid:272)essi(cid:448)e (cid:272)o(cid:373)e fro(cid:373) me(cid:374)del"s pea e(cid:454)peri(cid:373)e(cid:374)t. Phenotype = physical or observable characteristic i. e eye color, hair type. Mutations change in the genotype; can be spontaneous and can occur anywhere (can possibly create an allele) Can occur inside a gene or outside a gene (introns, exons, promoters)

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