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Mapping the Human Genome

Mapping the Human Genome. Dunnya Abdelbaqi & Miranda Jenkins. Chromosome 15. Breast Cancer (develops due to somatic mutations that occur in breast cells) Bloom Syndrome Andermann Syndrome Tyrosinemia

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Mapping the Human Genome

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  1. Mapping the Human Genome Dunnya Abdelbaqi & Miranda Jenkins

  2. Chromosome 15 • Breast Cancer (develops due to somatic mutations that occur in breast cells) • Bloom Syndrome • Andermann Syndrome • Tyrosinemia • Angelman Syndrome (complex genetic disorder that primarily affects the nervous system) • Person with Angelman Sydrome inherits 2 copies of chromosome 15, which is also called “duplication” or “doubling” of genes.

  3. Chromosome 15 • Genes on Chromosome 15 are among 650-1,000 genes out of 20,000-25,000 genes total, which is average. • Contains calcium binding protein • Eye color 3, brown • Isodicentric chromosome 15 (affects growth and development) (Person possesses extra marker chromosome) • Associated with deafness • Deletion  - 70% (Prader-Willi syndrome)

  4. Chromosome 16 Chromosome 16 is associated with: • Crohn disease (affects digestive system) • Huntington disease-like sydrome (brain disorder) • Juvenile Batten disease (affects nervous system • Spans 90 million base pairs • 16p11.2 Deletion Syndrome • kidney disease • February of 2010, a new cause of obesity due to a microdeletion on chromosome 16 was announced

  5. Chromosome 17 • Cystinosis (lysosomal disease) • BRCA1: breast cancer 1, early onset • CBX1: chromobox homolog 1 • COL1A1: collagen, type I, alpha 1 • CTNS: cystinosin, the lysosomal cystine transporter

  6. Cystinosis is a recessive trait in Chromosome 17 Unaffected Unaffected Affected

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