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Genetics Terms
| Term | Definition |
|---|---|
| Locus Heterogenaity | Same phenotype from different mutations in different genes |
| Allelic Heterogenaity | Different phenotype from different mutations in same gene |
| Anticipation | Disease displays earlier between generations, usually due to trinucleotide repeat lengthening between generations. |
| Telocentric | Centromere at telomere |
| Acrocentric | Centromere is close to the end |
| Submetacentric | Centromere is not quite in the middle, resulting in a p and q arm |
| Metacentric | Centromere is exactly in the middle |
| Paternal Imprint | Gene only expressed by maternal chromosome |
| Maternal Imprint | Gene only expressed by paternal chromosome |
| Uniparental disomy | One parent contributes both chromosomes resulting in loss of imprinted region. Can lead to Angelman or Prader-Willi syndrome |
| Lyonization | Synonymous with X inactivation |
| Epigenetics | Regulation without modification of nucleotides |
| Dosage Compensation | One X-Chromosome is deactivated in females so that males and females receive the same amount of gene expression |
| Imprinting | Some genes are expressed only by maternally or paternally derived chromosome. |
| Non-random X Inactivation | One X chromosome is always inactivated |
| Isodisomy | The duplication of a single chromosome inherited from one parent |
| Heterodisomy | The inheritance of a pair of non-identical chromosomes from one parent |
| Trisomic rescue | Phenomenon where a triploid egg loses a copy of the chromosome resulting in a normal diploid egg. Can result in uniparental disomy. |
| Totipotent Stem Cells | Original zygote cells, can become cell mass or placenta |
| Pluripotent Stem Cells | Embryonic stem cells and hematopoietic cells, can become several types of cells. |
| Multipotent Stem Cells | Granulocytes can become one of several cell lineages |
| Unipotent Stem Cells | Osteocytes can only become bone cells |
| Promoters | Required. Don't have it, get no transcription (TATA and CAAT boxes) |
| Enhancers | Optional. Don't have it, get some transcription, just slower. |
| Locus | A particular chromosomal location |
| Alleles | Alternative forms of a gene or DNA sequence at a locus |
| Genotype | The set of alleles a person has. |
| Phenotype | Observable expression of the genotype at the morphological, clinical, cellular, or biochemical level |
| Congenital defect | Defect observed at birth |
| Pleiotrophic | Defect in a gene causes multiple and diverse changes |
| Homozygous | AA Genotype |
| Heterozygous | Aa or AB Genotype |
| Hemizygous | A Genotype (usually males or females with Turner syndrome) |
| Compound heterozygote | ab (recessive in both genes) |
| Consanguinity | Couples who have at least one ancestor in common. |
| Penetrance | The probability that a mutant gene will be expressed at all |
| Expressivity | The Extent to which a genetic defect is expressed |
| Gain of Function Mutation | Excess of normal protein due to mutation |
| Loss of Function Mutation | Scarcity of normal protein due to mutation |
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