mapping the human genome
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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 - PowerPoint PPT PresentationTRANSCRIPT
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
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.
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)
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
Chromosome 16
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
Unaffected Unaffected Affected
Cystinosis is a recessive trait in Chromosome 17