43. Heredity and environment - phenocopy, genocopy, incomplete (reduced) penetrance.

Question 1

Phenocopy: environmentally induced phenotype mimicking genotype, not inherited and don’t have adaptive importance e.g. heredity of deafness due to disorder caused by rubeola virus, during development of hearing organ

Answer 1

Phenocopy: environmentally induced phenotype mimicking genotype, not inherited and don’t have adaptive importance e.g. heredity of deafness due to disorder caused by rubeola virus, during development of hearing organ

Question 2

Genocopy: two different genotypes, one phenotype, 2 different disease with one phenotype

Answer 2

Genocopy: two different genotypes, one phenotype, 2 different disease with one phenotype

Question 3

The development of an individual is determined by heredity and environmental factors. Environment is understood as the non-genetic outside factors (cytoplasmic, surrounding) of the cell/ organism.

Heredity is the sum of characteristics and associated potentialities transmitted genetically to an individual from the parental generation

Answer 3

The development of an individual is determined by heredity and environmental factors. Environment is understood as the non-genetic outside factors (cytoplasmic, surrounding) of the cell/ organism.

Heredity is the sum of characteristics and associated potentialities transmitted genetically to an individual from the parental generation

Question 4

Expressivity: Variations of phenotype in individuals carrying a particular genotype. It can be used to characterise qualitatively or quantitatively the extent of phenotypic variation. It’s measured only with 100% penetrance. The expression of a genotype may be modified by the effect of ageing, other genetic loci and environmental factors.

Answer 4

Expressivity: Variations of phenotype in individuals carrying a particular genotype. It can be used to characterise qualitatively or quantitatively the extent of phenotypic variation. It’s measured only with 100% penetrance. The expression of a genotype may be modified by the effect of ageing, other genetic loci and environmental factors.

Question 5

Penetrance: Proportion of individuals carrying a particular active gene variation in relation to those who have it, but not active. Incomplete refers percentages under 100%.

Answer 5

Penetrance: Proportion of individuals carrying a particular active gene variation in relation to those who have it, but not active. Incomplete refers percentages under 100%.

Question 6

Incomplete penetrance: if people with the mutation don’t develop features of the disorder = reduced penetrance e.g. familial cancer syndromes

Answer 6

Incomplete penetrance: if people with the mutation don’t develop features of the disorder = reduced penetrance e.g. familial cancer syndromes