Disease Pedigree Definitions

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Flashcards by gina_evans0312, updated more than 1 year ago
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Year 2 Flashcards on Disease Pedigree Definitions, created by gina_evans0312 on 12/18/2013.

Resource summary

Question Answer
Genotype Genetic Constitution of the individual or loci
Phenotype Appearance of the cell/organism- basically, anything given by a non genotypic test
Diploid Contains 2 copies of each chromosome
Haploid Contains a single copy of each chromosome (and gene)
Polymorphic The occurrence of different forms/stages/types of individuals of the same species or in an individual organism i.e. cells
Malformation Morphological abnormality due to abnormal development
Syndrome Set of developmental abnormalities occurring together in a recognizable/consistent pattern
Dismorphology A study of malformations/disease
Gene Disorders- Mitochondrial Have a maternal inheritence
Gene Disorders- Single Gene Are caused by a single gene change
Gene Disorders- Multifactorial Polygenetic and influenced by environment
Gene Disorders- Chromosomal Abnormalities Number or structural issues
Gene Disorders- Multifactoral Mosaic Defect impact varies according to expressivity
Male
Female
Unknown sex
Afflicted
Unafflicted
Carrier
Deceased
Consanguinous Marriage
Miscarrage
Stillbirth (with length of gestation underneath)
Termination
Monozygotic Twins
Dizygotic Twins
Uncertain Twins
Consanguinuity Relationships between individuals who are second cousins or closer
Founder Mutation A mutation occurring in one or more individuals who found a distinct population
Incest (English Law) Grandparent-Parent/Grandchild Sibing-Sibling/Half Sibling
Double First Cousins Both sets of parents are siblings (i.e. twin boys marry one each of twin girls)
Anticipation The severity of an autosomal dominant phenotype may worsen over successive generations
Penetrance % of individuals expressing a disorder to any degree
Age Penetrance Where a disorder develops with age
Incomplete Penetrence Where not all carriers develop the disease in their lifetime
Mosaicism Where a tissue/organ is made of 2 genetically different cells
Somatic Mosaicism Mutation arises early in embryogenesis so not all cells are mosaics
GermLine Mosaicism New mutation arises in oo/spermatogenesis- no phenotype in parent but may transfer to offspring
Hemizygous Posessing one allele of a gene, not the normal two
Gene Heterogenity Where a disease may be caused by one of a multiple no of allelic/non allelic mutations
Uniparently Disomy Where both alleles are inherited from one parent
Genomic Imprinting Expression of a gene depends on which parent you inherited from
Differential Gene Expression Where genes are only expressed on account of signals- allows cell differentiation in the body
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