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Human Genetics (12)
Human Genetics
| Question | Answer |
|---|---|
| Aneuploidy | condition with one or more chromosomes too many or too few |
| Polyploidy | individual or cell having more than TWO SETS of chromosomes (eg. 3n, 4n) |
| Huntington's Chroea | Dominant genetic disease (chrom. #4); late onset w/ loss of motor/mental |
| Klinfelter's Syndrome | Male with extra X chromosome (XXY); 2n+1=47 chromosomes |
| Criminal Syndrome | Trisomic 23 with XYY genotype (47 chromosomes; "aggressive") |
| Colorblindness | X-linked trait; inability to distinguish certain colors; |
| Autosomes | All chromosomes other than the sex pair (22 pair= 44 chromosomes) |
| 2n+1 | Algebraic expression for trisomic condition (47 chromosomes) |
| 2n-1 | Algebraic expression for MONOSOMIC condition (2n=45) |
| Sex Chromosomes | Heteromorphic chromosome pair; determines SEX. |
| Inbreeding | Mating of genetic RELATED individuals (consanguineious marriage) |
| Pedigree | Family tree; traces a trait through many generations |
| Carrier | Heterozygous individual w/ 1 copy of a recessive disorder (eg. Aa) |
| Polygenic | Control of a single PHENOTYPE by many genes (eg. Skin Color) |
| Multiple Alleles | more than two alleles at a locus control a trait (eg. ABO alleles) |
| Down Syndrome | Trisomy 21; causes severe mental retardation |
| Metafemale | Trisomic 23 with XXX genotype (once called "super" female) |
| Turner Syndrome | Mnosomic 23 (2n-1); sterile female missing an X chromosome; |
| Deletion | Loss of a segment of gene or chromosome (eg. 5 p= Cri-du-Chat) |
| Sickle Cell Anemia | Recessive disease (African Americans); RBCs change to curved shape |
| Duplication | A nucleotide sequence is REPEATED (doubling the gene) |
| Translocation | Mutation; part of chromosome detaches & attaches to non-homologous chromosome; |
| Cystic Fibrosis | male with extra X chromosome (XXY); 2n+1= 47 chromosomes |
| Oncogene | CANCER causing gene; formed from specific MUTATIONS |
| Transposons | jumping genes move from one chromosome to another (disrupt function) |
| Polydactyly | dominant genetic condition causing EXTRA FINGERS or toes |
| Inversion | Mutation; replacement of chromosome section in REVERSE |
| Tay Sachs | fat deposits buildup in neurons of brain (Jewish pop); death < 3-5 years |
| Hemophilia | X-linked recessive disease; inablility of blood to clot |
| Alzheimers | All chromosomes other than the sex pair (22 pair= 44 chromosomes) |
| Nondisjunction | failure of a homologous chromosome pair to separate at Meiosis I or II |
| Albinism | Absence of normal pigmentation (melanin) in skin, hair, eyes |
| PKU | inability to metabolize PHENYLALINE->mental retardation |
Created by:
vweber1
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