GENETIC DISORDERS

DOMINANT AUTOSOMAL HEREDITY A single dominant autosomal allele is inherited from one parent causing the person to show the dominant trait Huntington’s Disease- lethal genetic disorder caused by autosomal dominant allele. Degeneration of the nervous system in ages 30-50. Passed to the offspring.

RECESSIVE AUTOSOMAL HEREDITY Most genetic disorders are caused by recessive genes

CYSTIC FIBROSIS White Americans Mucus in the lungs and digestive tract The thick mucus collects in the lungs

SICKLE CELL ANEMIA Most common in black and Mediterranean population Red blood cells are sickle shaped Suffers from anemia and clogged blood vessels

TAY SACHS DISEASE Absence of an enzyme that breaks down a lipid produced by the Central Nervous System Mental deterioration, die by age 4 Common in Ashkenazi Jewish population

PHENYLKETONURIA (PKU) Absence of an enzyme that converts phenylalanine to tyrosine Accumulates in the body Causes CNS damage & mental retardation Special Diet will prevent symptoms

SEX LINKED DISORDERS Genes that are only carried on the sex chromosomes (X,Y) X-linked are passed to daughters & sons (generally females are only carriers) Y-linked are passed only to the sons

COLOR BLINDNESS Caused by the inheritance of 2 recessive alleles on the X chromosome Red-Green, Blue-Yellow, or Complete

HEMOPHILIA X-linked disorder Blood does not clot, missing a clotting factor

Queen Victoria England

ANEUPLOIDY Abnormal number of chromosomes Down Syndrome- 3 chromosomes on the 21st pair Turner Syndrome- female with only one X chromosome Klinefelter’s- Male with XXY

Down Syndrome

Turner Syndrome

Klinefelter’s Syndrome

Some other genetic disorders! Progeria Albinism

Dwarfism

Muscular Dystrophy

Retinoblastoma

Marfan Syndrome

Lesch Nyhan Syndrome

Shortest man: 21 in., tallest 8 ft 3 in