Pedigree Tree Flashcards
(14 cards)
1
Q
What is a proband
A
Individual being studied or reported on
2
Q
Consanguineous mating
A
Closely related individuals
3
Q
Penetrance
A
Proportion of individuals with a genotype who express the phenotype
4
Q
Expressivity
A
Variation in the phenotypic expression when allele is present
5
Q
Penetrance can be
A
Complete or incomplete
6
Q
Expressivity can be
A
Narrow or variable
7
Q
Autosomal recessive diseases
A
Cystic fibrosis, sickle cell anemia
8
Q
Autosomal dominant eg
A
Achondroplasia, polydactyly
9
Q
X-linked recessive eg
A
Red-green color blindness, hemophilia
10
Q
X-linked dominant eg
A
Rett syndrome
11
Q
Y-linked eg
A
Webbed toes, porcupine disorder
12
Q
Mitochondrial dna linked eg
A
Pearson syndrome
13
Q
Who passes on mitochondrial DNA
A
Mothers
14
Q
A
