W7 Patterns of Inheritance Flashcards Preview

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Flashcards in W7 Patterns of Inheritance Deck (18)
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1
Q

Neurofibromatosis type I (NFI)

A
  • Autosomal dominant
  • Cafe au lait spots
  • Tumor disorder
2
Q

Cystic fibrosis

A

Allelic heterogeneity

3
Q

Rentinitis pigmentosa

A

locus heterogeneity

4
Q

Hyperphenylalanemia

A

locus heterogeneity (different enzymes)

5
Q

RET mutations

A

Phenotypic heterogeneity

Causes either:

Hirschsprung disease (chronic constipation)

or

Multiple endocrine neoplasia types I and II

6
Q

Hemochromotosis

A

Sex-influences autosomal recessive

(thought is that male behaviors may alter disease phenotype)

7
Q

Tay-Sachs

A

consagunous disease

higher prevalence in Ashkanazi Jews

8
Q

Achondroplasia

A

Semidominant

Homozygotes often do not make it to birth

9
Q

Familial hypercholesterolemia

A

Semidominant

heterozygotes are okay

homozygotes = super expression

10
Q

Male-limited prococious puberty

A

Sex-limited expression

11
Q

Hemophilia

A

X-linked recessive trait

12
Q

Mutational mosaicism

A

mutation in early development

only some genes have mutation and therefore disease

13
Q

Penetrance

A

whether or not phenotype is expressed

14
Q

Expressivity

A

degree of phenotype severity

15
Q

Allelic heterogeneity

A

same disease can result from multiple mutations in one locus

ex: cystic fibrosis

16
Q

Locus heterogeneity

A

same phenotype results from mutaitons in different loci

Ex: Rentinitis pigmentosa

17
Q

Phenotypic heterogeneity

A

one mutation causes different disease phenotypes

ex: RET mutations

18
Q

Rett syndrome

A

X-linked dominant

seen only in females because lethal to males prenatally

(semidominance in females)