Pathology 3240A Lecture Notes - Lecture 17: Genomic Imprinting, Exon, Transmissible Spongiform Encephalopathy
29 May 2016
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Document Summary
Mendelian disorders: can be inherited in diff ways. Autosomal dominant : one allele of gene affected. Loss of func is mostly recessive since you have to lose both alleles for it to be harmful. You can have loss of func and dominant inheritance: 1 is affected and the other allele is fine but you don"t make enough protein to make a healthy genotype. E. g. polydactyly: having 6 fingers in one hand. A lot of metabolic diseases are from multifactorial diseases like diabetes; also schizophrenia. You won"t inherit from parents, it"s only higher probability of developing diseases (higher risk factor) due to environmental factors. Can be in promoter region and can change the expr of a certain gene, can be in 5" utr, and in the exon coding seqs; in introns, can affect the splicing effectiveness and produce aberrant proteins; 3". Utr can affect regulation of a certain gene. So not only do the coding seqs be affected, noncoding too.
