| A | B |
|---|
| most common lethal gene in caucasians | Cystic Fibrosis |
| lack melanin high frequency in Hopi & Navajo tribes | albinism |
| abnormal RBCs cause blockage of capillaries & pain due to lack of oxygen. High frequency in black population | Sickle cell anemia |
| lack of phenylalanine metabolism; requires dietary management | PKU |
| inability to metabolize milk sugar | galactosemia |
| lipid buildup in the brain; regression begins at 6 months of age | Tay-Sachs |
| anemia caused by absence of hemoglobin production in RBCs; affects those of Mediterranean decent | Thalasemia |
| 1) trait skips generations 2) unaffected parents can have an affected child 3) 25% occurence | autosomal recessive pedigree |
| 1) present in every generation 2) affected individuals can have an unaffected child 3) 50% occurence | autosomal dominant pedigree |
| aneuploidy | A chromosomal aberration in which one or more chromosomes are present in extra copies or are deficient in number. |
| Barr body | A dense object lying along the inside of the nuclear envelope in cells of female mammals, representing a highly condensed, inactivated X chromosome. |
| Down Syndrome | A human genetic disease caused by the presence of an extra chromosome 21; characterized by mental retardation and heart and respiratory defects. |
| Duchenne Muscular Dystrophy | A human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and a loss of muscle tissue. |
| Hemophelia | A human genetic disease caused by a sex-linked recessive allele resulting in the absence of one or more blood-clotting proteins; characterized by excessive bleeding following injury. |
| non-disjunction | An error in meiosis or mitosis in which members of a pair of homologous chromosomes or a pair of sister chromatids fail to separate properly from each other. |
| polyploidy | A chromosomal alteration in which the organism possesses more than two complete chromosome sets. It is the result of an accident of cell division. |
| translocation | An aberration in chromosome structure resulting from attachment of a chromosomal fragment to a nonhomologous chromosome. |
| trisomic | Referring to a diploid cell that has three copies of a particular chromosome instead of the normal two. |
| monosmic | Referring to a cell that has only one copy of a particular chromosome instead of the normal two. |
