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Genetics Terms

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
Created by: carchase