733Lecture02

733Lecture02 - BASIS FOR STUDIES OF HUMAN INHERITANCE FORMS...

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FOR STUDIES OF HUMAN INHERITANCE Human genetic patterns are no different than those of other organisms – Follow Mendel's laws • Based on the behavior of chromosomes in meiosis –SEGREGATION –INDEPENDENT ASSORTMENT –LINKAGE • review material in chapter 2 FORMS OF GENETIC DISORDERS 1. CHROMOSOMAL DISORDERS – Disorders not due to a "single” gene defect • Phenotypic effects probably caused by an imbalance of gene dosage due to change in: – chromosome number – chromosome structure KARYOTYPE HUMAN KARYOTYPE = DIPLOID – 23 pairs of chromosomes 22 AUTOSOMES –Numbered from largest to smallest –CHROMOSOME 1 = LARGEST –CHROMOSOME 22 = SMALLEST • SEX CHROMOSOMES: X and Y total complement = 46 XY or 46 XX HUMAN CHROMOSOMES Each chromosome identified by characteristic: – SIZE – SHAPE – BANDING PATTERN • VARIOUS STAINING TECHNIQUES FORMS OF GENETIC DISORDERS 1. Chromosomal disorders – Types (i): change in chromosome number ANEUPLOIDY –trisomy - extra chromosome –chr. 13, 18, 21, etc. . –monosomy - chromosome missing –X-chromosome - XO - turner syndrome –autosomal monosomy - very rare FORMS OF GENETIC DISORDERS 1. Chromosomal disorders – Types (ii): change in chromosome structure TRANSLOCATION
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733Lecture02 - BASIS FOR STUDIES OF HUMAN INHERITANCE FORMS...

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