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14.1: The Human Genome Human Heredity

AB
karyotypeset of photographs of chromosomes grouped in order in pairs
sex chromosomeone of two chromosomes that determine an individual’s sex; females have two X chromosomes; males have one X chromosome and one Y chromosome
autosomeautosomal chromosome; chromosome that is not a sex chromosome
pedigreechart that shows the relationships within a family
carrieran individual that has an allele for a disease but does not exhibit the disease
polygenictrait controlled by two or more genes
ABO blood groupsThere 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 groupThis blood group is determined by a single gene with two alleles -positive and negative. The positive allele is dominant, Rh+. Rh- is recessive.
RhoGAMRho(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.
AlbinismIndividual lacks pigment in skin, hair, and eyes. Appears at birth. Autosomal recessive disorder.
Cystic FibrosisExcessive mucus in the lungs, digestive track, liver, increased susceptibility to infections; death in childhood unless treated. Appears at birth. Autosomal recessive disorder.
GalactosemiaAccumulation 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 diseaseLipid accumulation in brain cells; mental deficiency; blindness; death in early childhood. Appears at birth. Autosomal recessive disorder.
AchondroplasiaDwarfism (one form). Appears at birth. Autosomal dominant disorder.
Huntington's diseaseMental deterioration and uncontrollable movements; appears in middle age. Autosomal dominant disorder.
HypercholesterolemiaExcessive cholesterol in blood; heart disease. Appears in middle age. Autosomal dominant disorder.
Sickle cell diseaseSickled blood cells; damage to many tissues. Appears at birth. Autosomal codominant disorder.
hemoglobinProtein that carries oxygen in the blood.

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