Capter 9 - Human Genetics

Capter 9 - Human Genetics - Ex: Cystic fibrosis, Sickle...

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Chromosomes and Human Genetics
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Human chromosomes fall into two groups Sex chromosomes Autosomes
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Sex Chromosomes Mammals, fruit flies
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The Y Chromosome Carries 330 genes SRY gene SRY present SRY absent
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Effect of Y Chromosome 10 weeks Y present Y absent 7 weeks birth approaching appearance of structures that will give rise to external genitalia appearance of “uncommitted” duct system of embryo at 7 weeks Y present Y absent testis ovary testes ovaries
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The X Chromosome Carries more than 2,062 genes
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Human Karyotype
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Pedigree Chart that shows genetic connections among individuals
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Pedigree for Polydactyly 6 7 12 5,5 6,6 5,5 6,6 5,5 6,6 5,5 6,6 5,5 6,6 6,6 5,5 6,6 5,5 5,6 6,7 6,6 6,6 * Gene not expressed in this carrier. * I II III IV V 5,5 6,6
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Autosomal Dominant Disorders
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Achondroplasia Homozygous dominant
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Fig. 11-9a, p.174
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Huntington Disorder
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Fig. 11-14, p.176 Hutchinson-Guilford Progeria
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Autosomal Recessive Disorders
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Unformatted text preview: Ex: Cystic fibrosis, Sickle anemia, Tay-Sachs disease, albinism Sex-linked Traits X-Linked Recessive Inheritance Examples of X-Linked Traits Color blindness Hemophilia Changes in chromosome number Accidents during meiosis can alter chromosome number chromosome alignments at metaphase I nondisjunctio n at anaphase I alignments at metaphase II anaphase II n + 1 n + 1 n- 1 n- 1 gametes Stepped Art Fig. 11-17a, p.178 Nondisjunction Down Syndrome Fig. 11-17b, p.178 Turner Syndrome Klinefelter Syndrome XXY condition Sterile male with many feminine traits Genetic Screening Large-scale screening programs detect affected persons Newborns in United States routinely tested for PKU Early detection allows changes in diet and prevents brain damage Phenotypic Treatments Prenatal Diagnosis - Amniocentesis...
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Capter 9 - Human Genetics - Ex: Cystic fibrosis, Sickle...

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