BMS 607 Lecture Notes - Lecture 6: Zygosity, Chromosome Segregation, Oncogene
16 Dec 2016
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Subchromosomal a e(cid:272)t part of 1(cid:894)+(cid:895) (cid:272)hro(cid:373)oso(cid:373)es (cid:894)deletio(cid:374), i(cid:374)versio(cid:374), et(cid:272)(cid:895) Chromosome breakage can produce inversions (in): pericentric (involving centromere) and paracentric (not involving centromere) types of duplications: tandem (side by side), and nontandem (dispersed) Two breaks could produce a reciprocal translocation (equal swap between 2 nonhomologous chromosomes) Abnormal phenotypes if breakpoint alters gene structure. Unbalanced gametes are produced, which results in reduced fertility. Genetic map distance are altered because of pseudolinkage terminal deletion: a deletion that occurs towards the end of a chromosome. Interstitial deletion: a deletion that occurs from the interior of a chromosome. Haploinsufficiency single gene copy cannot carry out functions usually done by 2 copies. Unequal crossing-over between tes can occur between tes found in slightly different locations on homologous chromosomes unbalanced cnv is a problem during meiotic pairing: df and dp can result in inversion loops during pairing- also affects gene dosage. Duplicated region must loop out to allow the homologous sequences of chromosomes to align.
