haploinsufficiency
One copy insufficient
Haploinsufficiency is a genetic condition in which one functional copy of a gene is insufficient to maintain normal function.
Humans carry two copies of most genes; when one copy is mutated or deleted, the remaining copy sometimes cannot produce enough protein to prevent disease.
Many genetic disorders result from haploinsufficiency rather than complete loss of function.
Gene variant at one locus
- dominantHaving superior influence
- phenotypeObservable characteristics of organism
- penetranceGenotype-to-phenotype expression ratio
- expressivityQuality of conveying emotion
heterozygous · diploid · locus · monogenic · inheritance · genotype · carrier · germline
Cutting something shorter
- nonsenseMeaningless words or actions
- frameshiftAltered reading of codons
- deletionRemoval of content
- pathogenicCausing disease
deleterious · knockout · silencing · inactivation · disruption · variant
Original genetic baseline
- compensatoryMaking up for loss
- stoichiometryQuantitative chemical reaction analysis
allele
Gene variant at one locus
- dominantHaving superior influence
- phenotypeObservable characteristics of organism
- penetranceGenotype-to-phenotype expression ratio
expressivity · heterozygous · diploid · locus · monogenic · inheritance · genotype · carrier · germline · somatic
truncation
Cutting something shorter
- nonsenseMeaningless words or actions
- frameshiftAltered reading of codons
- deletionRemoval of content
pathogenic · deleterious · knockout · silencing · inactivation · disruption · variant
BRCA1
Tumor suppressor gene
wild-type
Original genetic baseline
- compensatoryMaking up for loss
- stoichiometryQuantitative chemical reaction analysis