lecture 2 - 24 pairs of human chromosomes(22 pairs...

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1 24 pairs of human chromosomes (22 pairs autosomal chromosomes and 2 pairs of sex chromosomes) However, in each normal human somatic cell and germ line cell, there are only 22 pairs of autosomes and 1 pair of sex chromosomes.
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2 Characterizing human chromosomes
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3 Chromosome Abnormalities ( number or structure ) • Aneuploidy – the change of total chromosome numbers (gain or loss) • Structure alterations Terminal deletion, interstitial deletion Insertion Inversion Reciprocal translocation
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4 interstitial deletion Del(X)(p11.23p22.1)
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5 Inversion Inv(9)(p13q22.3)
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6 Reciprocal translocation t(7;19)(q22;q13.1)
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7 BCR-ABL Myc overexpression t(9;22)(q34;q11) t(8;14)(q24;q32)
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8 Figure 20-51 Molecular Biology of the Cell (© Garland Science 2008)
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9 Are there any p – q arm translocations?
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10
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11 Any questions?
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12 Molecular Basis of Human Diseases BIMM 110 Spring 2010 Lecture 2 Human Disease Pedigree and Hemophilia
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13 Cell proliferation via cell cycle • Cell division cycle is also called mitotic cycle. • A special cell division to generate sperms/unfertilized eggs (gametes ) from germ line cells are called meiosis. • Cells that do not produce gametes are called somatic cells , proliferate via mitosis. • Normal somatic cells are diploid with 23 pairs of chromosomes (2N). • Gametes are derived from germ line cells and are haploid with 23 chromosomes (1N).
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14 Mitosis Cell Cycle
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15 Meiosis process • This specialized cell division is used to generate 1N gametes from 2N germ line cells. • Germ line cells go through two successive division cycles called meiosis I and meiosis II. • The G1, S, and G2 phases of meiosis I resemble those of a mitotic cell cycle. • The prophase of meiosis I is totally different from that in the mitotic prophase. • Meiosis II has no S phase, but resembles mitotic cell division.
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16 Meiosis Process
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17 Figure 17-47 Molecular Biology of the Cell (© Garland Science 2008)
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18 Mitosis Meiosis Location all tissues only in testis and ovary Products diploid somatic cells haploid sperm and egg cells DNA replication Normally one round of only one round of replication and cell division replication per cell but two cell divisions division Extent of prophase short (30 min in human) meiosis I is long and complex can take years to complete Pairing of homologs none yes (in meiosis I) Recombination rare and abnormal normally at least once in (crossover) each chromosome arm Relationship between genetically identical different (recombination and daughter cells independent assortment of homologs
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19 Mitosis Meiosis Location all tissues only in testis and ovary Products diploid somatic cells haploid sperm and egg cells DNA replication Normally one round of only one round of replication and cell division of replication per cell
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This note was uploaded on 04/19/2010 for the course BIOLOGY BIMM110 taught by Professor Mcginnis during the Spring '10 term at UCSD.

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lecture 2 - 24 pairs of human chromosomes(22 pairs...

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