begrepp 2 genetics (col 1)

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• one pathologic variant in one gene causes aberrations of phenotypes in several organ systems gene pleiotropy
• when some individuals who carry the pathogenic variant express the trait while others do not incomplete penetrance
• all carriers of the mutation will show signs and symptoms of the disease complete penetrance
• a form of gene interaction in which both alleles of a gene at a locus are partially expressed, often resulting in an intermediate phenotype incomplete dominance
• is when a dominant allele completely masks the effect of the recessive allele complete dominance
• when different allelic variants of the same gene cause similar or identical phenotypes allelic heterogeneity
• when allelic variants of different genes cause identical or similar phenotypes, different genes --> one disease locus heterogeneity
• when a person has 2 different pathogenic variants of the same gene compound heterozygosity
• refers to the range of signs and symptoms that can occur in different people with the same genetic condition variable expressivity
• when a medical condition occurs relatively late in life late onset
• when a change in DNA sequence of a gene is seen for the first time in a person and has not been seen in previous generation de novo mutation
• when a person shows a specific trait or phenotype, but it is not caused by genetics like usual, instead it is caused by environmental factors phenocopy
• when a characteristic or phenotype is expressed in only 1 sex sex limited trait
• when a characterisitc or phenotype whose expression is influenced by the sex of the individual, but is not restricted to one sex only sex influenced trait
• when a heterozygote shows the phenotypic effects of both alleles equally codominance
• occurs when a person has 2 or more genetically different sets of cells in his or her body somatic mosaicism
• small group of individuals with few allelic variants --> in future, only a small number of allelic variants are present founder effect
• is a concept in genetics that describes how the frequencies of different genetic variants, called alleles, can change over time due to random chance. genetic drift

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