A | B |
karyotype | set of photographs of chromosomes grouped in order in pairs |
sex chromosome | one of two chromosomes that determine an individual’s sex; females have two X chromosomes; males have one X chromosome and one Y chromosome |
autosome | autosomal chromosome; chromosome that is not a sex chromosome |
pedigree | chart that shows the relationships within a family |
carrier | an individual that has an allele for a disease but does not exhibit the disease |
polygenic | trait controlled by two or more genes |
ABO blood groups | There are a number of genes that are responsible for human blood groups. For blood groups ABO there are three alleles for this gene, IA, IB, and i. |
Rh blood group | This blood group is determined by a single gene with two alleles -positive and negative. The positive allele is dominant, Rh+. Rh- is recessive. |
RhoGAM | Rho(D) IG is a sterilized blood product used to prevent an immune response to Rh positive blood in people with an Rh negative blood type such as in a miss-matched blood transfusion or in pregnancy when the baby is the opposite blood type from the mother. |
Albinism | Individual lacks pigment in skin, hair, and eyes. Appears at birth. Autosomal recessive disorder. |
Cystic Fibrosis | Excessive mucus in the lungs, digestive track, liver, increased susceptibility to infections; death in childhood unless treated. Appears at birth. Autosomal recessive disorder. |
Galactosemia | Accumulation of glactose (a sugar) in tissues; causes metal retardation; eye and liver damage. Appears at birth. Autosomal recessive disorder. |
Phenylketonuria (PKU) | Accumulation of phenylalanine in tissues; lack of normal skin pigment; mental retardation. Appears at birth. Autosomal recessive disorder. |
Tay-Sachs disease | Lipid accumulation in brain cells; mental deficiency; blindness; death in early childhood. Appears at birth. Autosomal recessive disorder. |
Achondroplasia | Dwarfism (one form). Appears at birth. Autosomal dominant disorder. |
Huntington's disease | Mental deterioration and uncontrollable movements; appears in middle age. Autosomal dominant disorder. |
Hypercholesterolemia | Excessive cholesterol in blood; heart disease. Appears in middle age. Autosomal dominant disorder. |
Sickle cell disease | Sickled blood cells; damage to many tissues. Appears at birth. Autosomal codominant disorder. |
hemoglobin | Protein that carries oxygen in the blood. |