Chapter 14- Human Genetics
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Created by:
meganbrejcha on December 2, 2010
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Classes:
9th Biology Jones, Biology S1 Final
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29 terms
Terms | Definitions |
|---|---|
 Autosomes | Chromosomes that are not sex chromosomes. |
| Chromosomes | Threadlike structures within the nucleus that consist of DNA tightly coiled around proteins. |
| Colorblindness | Genetic disorder seen in 10% of males and 1% of females; located on the X chromosome. |
| DNA fingerprinting | Analysis of sections of DNA that have little or no known function but vary widely from one individual to another, in order to identify individuals. |
| Dominant | A trait that is expressed whenever its allele is present. |
| Down syndrome | Trisomy 21; a genetic disorder seen in 1 in 800 births. |
| Gene therapy | When an absent of faulty gene is replaced by a normal, working gene. |
| Hemophilia | X-linked genetic disorder related to blood clotting seen in 1 in 10,000 males. |
| Human genome project | An ongoing effort began in 1990 to analyze the human DNA sequence. |
| Karyotype | A set of photographs of chromosomes grouped in order in pairs. |
| Klinefelter's syndrome | 47, XXY; Sex chromosome disorder where males have more than one X chromosome. |
| Nondisjunction | An error in meiosis in which homologous chromosomes fail to separate. |
| Pedigree | A chart that shows the relationships within a family. |
| Recessive | A trait that is expressed only when an individual is homozygous for the trait. |
| Sex chromosome | One of two chomosomes that determine an individual's sex; females have two X chromosomes; males have one X chromosome and one Y chromosome. |
| Sex linked genes | Genes located on the X or Y chromosome. |
| Turner's syndrome | 45, X; Sex chromosome disorder when a female only inherits one X chromosome. |
| Achondroplasia | A dominant form of dwarfism |
| Albinism | A recessive trait causing lack of pigment in skin, hair, and eyes |
| Cystic fibrosis | Caused by the deletion of three bases on chromosome 7; causes a thick mucous to form in the lungs and digestive tract |
| Phenylketoneuria | Recessive trait carried on chromosome 12; prevents the body from breaking down phenylalanine |
| Sickle cell disease | Caused by a point mutation of one base pair on chromosome 11; causes misshapen red blood cells |
| 46, XY | Normal male karyotype |
| 46, XX | Normal female karyotype |
| Barr body | The X chromosome that is inactivated in females |
| 1990 | The year the Human Genome project started |
| 1 | Longest chromosome number |
| 22 | Shortest chromosome number |
| X | Chromosome that holds the most sex-linked disorders |
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