Autosomal Dominant Inheritance

Question 1

A trait produced by by a single gene:

Answer 1

Monogenic or Mendelian

Question 2

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

Answer 2

Allele

Question 3

Principle of Segregation (First Law):

Answer 3

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

Question 4

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

Answer 4

Intact and distinct

Question 5

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

Answer 5

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

Question 6

How often a particular gene sequence occurs in a population:

Answer 6

Gene frequency

Question 7

How often a given genotype occurs in a population

Answer 7

Genotype frequency

Question 8

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

Answer 8

The Hardy-Weinberg principle

Question 9

The Hardy-Weinberg principle is used to predict:

Answer 9

Genotype frequencies if the gene frequencies are known

Question 10

Pedigrees are typically based on:

Answer 10

Observed phenotype

Question 11

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

Answer 11

Proband

Question 12

First degree relatives are related to the proband through:

Answer 12

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

Question 13

Second Degree relatives are related to the proband through:

Answer 13

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

Question 14

3rd degree relatives are related to the proband through:

Answer 14

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

Question 15

Nonenzymatic structural proteins are associated with _____________ diseases

Answer 15

Autosomal dominant

Question 16

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

Answer 16

Autosomal dominant

Collagen

Question 17

Huntington Disease is a ____________ disease

Answer 17

Autosomal dominant

Question 18

Huntington Disease effects the _________ gene

Answer 18

HD or Huntingtin

Question 19

What type of disease is Huntington (specific)

Answer 19

Trinucleotide repeat expansion disease

Question 20

Symptoms of Huntington Disease

Answer 20

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

Question 21

Achondroplasia is a ____________ disease

Answer 21

Autosomal dominant

Question 22

Achondroplasia effects which gene:

Answer 22

FGFR-3 (fibroblast growth factor receptor gene 3)

Question 23

What type of mutation occurs in achondroplasia

Answer 23

Point mutation

Question 24

Specific gene alteration of achondroplasia:

Answer 24

Glycine to arginine missense mutation - gain of function

Question 25

Symptoms of achondroplasia

Answer 25

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

Question 26

In autosomal dominant disorders, homozygotes typically:

Answer 26

Do not survive infancy (except for Huntington’s)

Question 27

Neurofibromatosis Type 1 is a _______________ disease

Answer 27

Autosomal dominant

Question 28

Symptoms or Neurofibromatosis Type 1

Answer 28

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

Question 29

Neurofibromatosis type 1 effects the ________ gene

Answer 29

NF1 (neurofibromin-1)

Question 30

Marfan syndrome is a ____________ disease

Answer 30

Autosomal dominant

Question 31

Marfan syndrome symptoms

Answer 31

Disproportionate tall stature, arachnodactyly, skeletal abnormalities, cardiovascular problems

Question 32

Marfan syndrome effects which gene

Answer 32

FBN1 (formation of elastic fibers in connective tissue

Question 33

Familiar hypercholesterolemia is a ____________ disease

Answer 33

Autosomal dominant

Question 34

Familial hypercholesterolemia effects which gene

Answer 34

LDL reception gene

Question 35

Familial hypercholesterolemia specific mutation:

Answer 35

Loss-of-function mutation

Question 36

Familial hypercholesterolemia symptoms:

Answer 36

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

Question 37

Homozygotes for familial hypercholesterolemia typically:

Answer 37

Die of MI in childhood

Question 38

Occurrence risk:

Answer 38

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

Question 39

Recurrence risk

Answer 39

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