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

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