|
Erstellt von gina_evans0312
vor mehr als 10 Jahre
|
|
Frage | Antworten |
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 |
Image:
Male (image/png)
|
Male |
Image:
Female (image/png)
|
Female |
Image:
Unknown (image/png)
|
Unknown sex |
Image:
Afflicted (image/png)
|
Afflicted |
Image:
Unaffected (image/png)
|
Unafflicted |
Image:
Carriers (image/png)
|
Carrier |
Image:
Deceased (image/png)
|
Deceased |
Consanguinous Marriage | |
Image:
Miscarriage (image/png)
|
Miscarrage |
Image:
Stillbirth (image/png)
|
Stillbirth (with length of gestation underneath) |
Image:
Termination (image/png)
|
Termination |
Image:
Monozygotic (image/png)
|
Monozygotic Twins |
Image:
Dizygotic (image/png)
|
Dizygotic Twins |
Image:
Uncertain (image/png)
|
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 |
Möchten Sie mit GoConqr kostenlos Ihre eigenen Karteikarten erstellen? Mehr erfahren.