| Term | Definition |
|---|
| karyotype | set of photographs grouped in order of pairs; (1) look under microscope inside cell (2) photograph cells during mitosis (3) cut the photograhps & group together in pairs |
| XX | females have two copies [sex chromosome] |
| XY | males have two different copies [sex chromosome] |
| autosomes | other 44 chromosomes that aren't sex chromosomes |
| X | all egg cells carry at least one _ chromosome |
| pedigree charts | show relationships within family; infer genotypes of family members; specific trait from generation to generation |
| albinism | form of hypopigmentary congenital disorder, characterized by a partial lack of melanin pigment in the eyes, skin, and hair [inheritance of recessive alleles] |
| cystic fibrosis | mucus develops in lungs making it harder to breathe; symptoms: slimy skin, cough with flem; common life-shortening genetic diseases [mutation in CFRT]; no cure [life expentancy: 50 years] |
| galactesemia | results when the body is not able to meatbolize sugar galactose; found in dairy products; [recessive alleles]; causes mental retardation; eye & liver damage |
| PKU (Phenylketonuria) | [recessive disorder]; increases amount of amino acid phenylalanine to harmful levels of blood; sym |
| Tay-Sachs disease | lipid accumulation in brain cells; mental defieciency; blindness; death in early childhood; [recessive alleles] |
| Achondroplasia | dwarfism (one form); genetic disorder caused by an autosomal dominant mutation in the fibrolast growth receptor gene 3 (FGFR3) |
| Huntington's disease | an autosomal dominant disorder in which the individual may show mental deterioration and uncontrollable movements; appears in middle age |
| Hypercholesterolemia | too much cholesterol in blood; inherited when mutations in genes have an autosomal dominant inheritance; heart disease; risks: stroke, coronary artery disease |
| sickle cell disease | caused by codominant alleles & defective DNA sequence; twisted and bent red blood cells; get stuck in capillaries; hemoglobin stick together due to low oxygen; as a result the hemoglobin molecules stick together forming the abnormal sickle celled shaped red blood cells; mainly in Africa [malaria]; damages organs, cells, and tissues |
| colorblindness | first article published by John Dalton in 1798; penetrates camouflage; more common in males [1 X chromosome]; progressive/stationary |
| monochromacy | total colorblindness |
| dichromacy | one cone/rod missing (red-green) |
| trichromacy | one cone/rod impaired |
| Hemophilia | absence of a protein for blood clotting; heriditary/sex linked disorder; recessive allele on one of the genes; bleeding to death from cuts; internal bleeding |
| Muscular Dystrophy | [sex-linked] an inherited disorder, characterized by rapidly worsening muscle weakness that starts in the legs and pelvis. later affecting whole body; defective gene for dystrophin (protein); symptoms: frequent falls; large calf muscles |
| X-chromosome inactivation | results in dense regions known as Barr bodies in the nucleus of cells; a result of having 2 copies of the X chromosome |
| Klinefelter's syndrome | disease in males ONLY; extra X (XXY); usually caused by a chromosome an euploidy or an abnormal number of chromosomes; symptoms: infertility; hypogonadism (reproductive deficiency that stunts growth); increased breast tissue |
| Down Syndrome | a chromosomal disorder in which the individual receives 3 copies of chromosome 21 [Trisomy 21]result of nondisjunction (extra 1 chromosome in 21); mental retardation |
| Turner's Syndrome | nondisjunction in females [inherits only 1 X chromosome]; sterile (unable to reproduce) |
| Human Genome project | ongoing effort to analyze the human DNA sequence; sequenced in fruit fly |
| gene therapy | an absent or faulty gene is replaced by a normal, working gene |
| DNA fingerprinting | identification of individuals; analyzes sections of DNA that have little or no known function but vary widely from one individual to another |
| sex-linked gene | gene located on the X or Y chromosome |
| nondisjunction | a common error in meiosis in which homologous chromosomes fail to separate |
| I^A and I^B | codominant alleles in the ABO blood groups |
Combine with other sets
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