Genetic Definitions

Question 1

What does polymorphism mean?

Answer 1

Non pathogenic variations at a locus from a wild type (normal allele)

Question 2

What does consanguinity mean?

Answer 2

Reproductive union of 2 relatives

Eg, cousins

Question 3

What does penetrance mean?

Answer 3

% of ppl with the expected phenotype from their genotype

Question 4

Variable expression

Answer 4

Same genotype expressed differently

Question 5

Late onset

Answer 5

Manifestation of disease after birth (vs at birth, congenital)

Question 6

Anticipation

Answer 6

Eg, Huntingtons

Wider trinucleotide repeats of mutated sequence over generations
Symptoms are earlier and more severe

Question 7

Autozygosity

Answer 7

Same mutation from both sides of family

Question 8

Hemizygous

Answer 8

Genes carried on an unpaired chromosome

Question 9

Lyonisation

Answer 9

1 female X (of the 2) randomly inactivated

Question 10

Imprinting

Answer 10

1 allele suppressed of the inherited 2

Question 11

Sex limitation

Answer 11

Expression of a particular characteristic limited to one of the sexes