Autosomal Dominant Inheritance Flashcards Preview

Biochem 4 > Autosomal Dominant Inheritance > Flashcards

Flashcards in Autosomal Dominant Inheritance Deck (39):
1

A trait produced by by a single gene:

Monogenic or Mendelian

2

One or more alternative forms that a gene may have in a population

Allele

3

Principle of Segregation (First Law):

Sexually reproducing organisms possess genes in pairs and only one of each pair is transmitted to a particular offspring

4

In Mendel’s Principle of segregation, the genes remain _______ and ________ in the next generation

Intact and distinct

5

Mandel’s Principle of Independent Assortment (Second Law) states:

Genes that reside at different loci are transmitted independently during the formation of gametes

6

How often a particular gene sequence occurs in a population:

Gene frequency

7

How often a given genotype occurs in a population

Genotype frequency

8

How is the frequency of alleles in a population related to the frequency of genotypes in a population?

The Hardy-Weinberg principle

9

The Hardy-Weinberg principle is used to predict:

Genotype frequencies if the gene frequencies are known

10

Pedigrees are typically based on:

Observed phenotype

11

The first person in a pedigree to be identified clinically as having the disease in question

Proband

12

First degree relatives are related to the proband through:

A sibling relationship or by being a parent of the proband or the child of a proband

13

Second Degree relatives are related to the proband through:

Separated from each other by one additional generational step. Grandparents, grandchildren, aunts/uncles and nephew/nieces

14

3rd degree relatives are related to the proband through:

Separated from each other by two additional generational steps. Great grandchildren, great grandparents, first cousins

15

Nonenzymatic structural proteins are associated with _____________ diseases

Autosomal dominant

16

Ehlers-Danlos syndrome is a ___________ disease caused by mutations in ____________

Autosomal dominant
Collagen

17

Huntington Disease is a ____________ disease

Autosomal dominant

18

Huntington Disease effects the _________ gene

HD or Huntingtin

19

What type of disease is Huntington (specific)

Trinucleotide repeat expansion disease

20

Symptoms of Huntington Disease

Progressive demientia, choreic movements and late age of onset (30s-40s)

21

Achondroplasia is a ____________ disease

Autosomal dominant

22

Achondroplasia effects which gene:

FGFR-3 (fibroblast growth factor receptor gene 3)

23

What type of mutation occurs in achondroplasia

Point mutation

24

Specific gene alteration of achondroplasia:

Glycine to arginine missense mutation - gain of function

25

Symptoms of achondroplasia

Short-limbed dwarfism, radiological features of the spine, characteristic face structure

26

In autosomal dominant disorders, homozygotes typically:

Do not survive infancy (except for Huntington’s)

27

Neurofibromatosis Type 1 is a _______________ disease

Autosomal dominant

28

Symptoms or Neurofibromatosis Type 1

Cafe-au-lait spots, neurofibromas, lisch nodules in the eye, learning disabilities

29

Neurofibromatosis type 1 effects the ________ gene

NF1 (neurofibromin-1)

30

Marfan syndrome is a ____________ disease

Autosomal dominant

31

Marfan syndrome symptoms

Disproportionate tall stature, arachnodactyly, skeletal abnormalities, cardiovascular problems

32

Marfan syndrome effects which gene

FBN1 (formation of elastic fibers in connective tissue

33

Familiar hypercholesterolemia is a ____________ disease

Autosomal dominant

34

Familial hypercholesterolemia effects which gene

LDL reception gene

35

Familial hypercholesterolemia specific mutation:

Loss-of-function mutation

36

Familial hypercholesterolemia symptoms:

Elevated levels of LDL in plasma (300-400 mg/dL)
Deposition of cholesterol in tendons and skin and arteries

37

Homozygotes for familial hypercholesterolemia typically:

Die of MI in childhood

38

Occurrence risk:

The risk of producing an affected child when no children have yet been produced

39

Recurrence risk

Risk of producing an affected child when one or more children with the disease have already been produced