BME80H Lecture 8

BME80H Lecture 8 - Lecture #8- Cytogenetics, Chromosomal...

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Lecture #8- Cytogenetics, Chromosomal Aberrations and Human Disease (ch 7 p. 156-157; ch 6 p. 120-145) Part I: Cytogenetics: the study of chromosomes and their behavior in a cell. I. Examining human chromosomes A. Chromosomes have distinctive banding patterns when treated with dyes (figures 6.4, 6.5, 6.8) Patten depends on dye used. Main dye = Glomsa = produces G-banding B. Nomenclature of Chromosomes and their parts Classifications (figure 6.5 again): Whole Chromosome: centromere location, chromosome size and banding pattern. -characterized into 7 groups (A-G) depending on characteristics above. -centromere location metacentric submetacentric acrocentric Chromosome Arms: Separated by the centromere p (short) and q (long) Chromosome Regions: numbered starting at the centromere Chromosome Bands: within each region. Numbered in the direction away from the centromere.
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C. Analyzing karyotypes 1. Visible chromosomal aberrations: translocation (t)- material from one chromosome is transferred to another, non-homologous chromosome. duplication (dup)- segment of a chromosome is duplicated. deletion (del)- segment a chromosome is deleted. Nomenclature of Chromosomal aberrations (Table 6.2) Total # chromosomes, aberration type, chromosome(s) involved. 2. Chromosome Painting (figure 6.9) -uses fluorescent markers (probes) that recognize particular chromosomes. -spectral karyotype (genomic instability = cancer) II. Diagnosis of chromosomal abnormalities A. Adults: make a Karyotype using cells from one of the following sources: -White blood cells (lymphocytes) -skin cells (fibroblasts) -tumor cells (biopsy) process shown in fig 6.6 B. Prenatal Diagnosis 1. Amniocentesis (figure 6.10) - 16 th week of pregnancy Removal & analysis of a sample of amniotic fluid. Contains fetal cells
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-risk of infection to the mother and a very small risk (<1%) of spontaneous abortion. used when:
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BME80H Lecture 8 - Lecture #8- Cytogenetics, Chromosomal...

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