W7 Patterns of Inheritance Flashcards Preview

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

Neurofibromatosis type I (NFI)

  • Autosomal dominant
  • Cafe au lait spots
  • Tumor disorder

2

Cystic fibrosis

Allelic heterogeneity

3

Rentinitis pigmentosa

locus heterogeneity

4

Hyperphenylalanemia

locus heterogeneity (different enzymes)

5

RET mutations

Phenotypic heterogeneity

 

Causes either:

Hirschsprung disease (chronic constipation)

or

Multiple endocrine neoplasia types I and II

6

Hemochromotosis

Sex-influences autosomal recessive

 

(thought is that male behaviors may alter disease phenotype)

7

Tay-Sachs

consagunous disease

 

higher prevalence in Ashkanazi Jews

8

Achondroplasia

Semidominant

 

Homozygotes often do not make it to birth

9

Familial hypercholesterolemia

Semidominant

 

heterozygotes are okay

homozygotes = super expression

10

Male-limited prococious puberty

Sex-limited expression

11

Hemophilia

X-linked recessive trait

12

Mutational mosaicism

mutation in early development

 

only some genes have mutation and therefore disease

13

Penetrance

whether or not phenotype is expressed

14

Expressivity

degree of phenotype severity

15

Allelic heterogeneity

same disease can result from multiple mutations in one locus

 

ex: cystic fibrosis

16

Locus heterogeneity

same phenotype results from mutaitons in different loci

 

Ex: Rentinitis pigmentosa

17

Phenotypic heterogeneity

one mutation causes different disease phenotypes

 

ex: RET mutations

18

Rett syndrome

X-linked dominant

 

seen only in females because lethal to males prenatally

(semidominance in females)