Molecular Genetis 9

Molecular Genetis 9 - Molecular Genetics IX Nov.10, 2008...

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Molecular Genetics IX Nov.10, 2008 Francke 9 1 11/9/08 HumBio 2A. Molec. Genetics IX 1 GENETIC TESTING/SCREENING Who, when and for what to test? • Cytogenetics, fluorescence in situ hybridization (FISH), • copy-number changes and “normal” variants (CNV), • SNPs associated with common diseases Molecular Genetics IX PHARMACOGENETICS Why do people respond differently to certain drugs? TREATMENT OF GENETIC DISORDERS Enzyme defects, gene-based rational approaches, gene therapy 11/9/08 HumBio 2A. Molec. Genetics IX 2 Diagnostic Testing Genetic Screening Genetic testing Symptomatic Individuals At-risk Individuals General Population Fetus Newborn Adult Adult Child Adult Diagnostic evaluation 11/9/08 HumBio 2A. Molec. Genetics IX 3 Diagnostic Testing Genetic Screening Genetic testing Symptomatic Individuals At-risk Individuals General Population Fetus Newborn Adult Adult Child Adult Carrier status Risk to offspring Adult-onset disorders
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Molecular Genetics IX Nov.10, 2008 Francke 9 2 11/9/08 HumBio 2A. Molec. Genetics IX 4 Diagnostic Testing Genetic Screening Genetic testing Symptomatic Individuals At-risk Individuals General Population Fetus Newborn Adult Adult Child Adult Amniocentesis Chorionic villus Sampling (CVS) Maternal Blood 11/9/08 HumBio 2A. Molec. Genetics IX 5 Diagnostic Testing Genetic Screening Genetic testing Symptomatic Individuals At-risk Individuals General Population Pre-implantation Embryo Fetus Newborn Adult Adult Child Adult IVF Gene-specific tests by PCR Chromosomes by FISH Embryo selection 11/9/08 HumBio 2A. Molec. Genetics IX 6 Diagnostic Testing Genetic Screening Genetic testing Symptomatic Individuals At-risk Individuals General Population Pre-implantation Embryo Fetus Newborn Adult Adult Child Adult State-mandated Treatable disorders
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Molecular Genetics IX Nov.10, 2008 Francke 9 3 11/9/08 HumBio 2A. Molec. Genetics IX 7 Cytogenetic Test Methods High-resolution karyotype (650-800 bands) detects – Small structural changes, in addition to above Routine karyotype (400-500 bands) detects Abnormal number of chromosomes Large duplications and deletions Balanced rearrangements (translocations, inversions) Fluorescence in situ hybridization (FISH) detects • Submicroscopic deletions based on hybridization of fluorescently labelled oligonucleotides to metaphase chromosomes 11/9/08 HumBio 2A. Molec. Genetics IX 8 High-resolution karyotype 11/9/08 HumBio 2A. Molec. Genetics IX 9 Deletion 22q11.2 DiGeorge syndrome/ Velocardiofacial syndrome Most common genetic cause of congenital heart defects
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Molecular Genetics IX Nov.10, 2008 Francke 9 4 11/9/08 HumBio 2A. Molec. Genetics IX 10 Copy Number Variants (CNV) are detected by Competitive Genomic Hybridization (CGH)
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This note was uploaded on 11/08/2009 for the course HUMBIO 2A taught by Professor Boggs,c;durham,w during the Spring '08 term at Stanford.

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Molecular Genetis 9 - Molecular Genetics IX Nov.10, 2008...

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