Autosomal Dominant Inheritance Flashcards
A trait produced by by a single gene:
Monogenic or Mendelian
One or more alternative forms that a gene may have in a population
Allele
Principle of Segregation (First Law):
Sexually reproducing organisms possess genes in pairs and only one of each pair is transmitted to a particular offspring
In Mendel’s Principle of segregation, the genes remain _______ and ________ in the next generation
Intact and distinct
Mandel’s Principle of Independent Assortment (Second Law) states:
Genes that reside at different loci are transmitted independently during the formation of gametes
How often a particular gene sequence occurs in a population:
Gene frequency
How often a given genotype occurs in a population
Genotype frequency
How is the frequency of alleles in a population related to the frequency of genotypes in a population?
The Hardy-Weinberg principle
The Hardy-Weinberg principle is used to predict:
Genotype frequencies if the gene frequencies are known
Pedigrees are typically based on:
Observed phenotype
The first person in a pedigree to be identified clinically as having the disease in question
Proband
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
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
3rd degree relatives are related to the proband through:
Separated from each other by two additional generational steps. Great grandchildren, great grandparents, first cousins
Nonenzymatic structural proteins are associated with _____________ diseases
Autosomal dominant
Ehlers-Danlos syndrome is a ___________ disease caused by mutations in ____________
Autosomal dominant
Collagen
Huntington Disease is a ____________ disease
Autosomal dominant
Huntington Disease effects the _________ gene
HD or Huntingtin
What type of disease is Huntington (specific)
Trinucleotide repeat expansion disease
Symptoms of Huntington Disease
Progressive demientia, choreic movements and late age of onset (30s-40s)
Achondroplasia is a ____________ disease
Autosomal dominant
Achondroplasia effects which gene:
FGFR-3 (fibroblast growth factor receptor gene 3)
What type of mutation occurs in achondroplasia
Point mutation
Specific gene alteration of achondroplasia:
Glycine to arginine missense mutation - gain of function
Symptoms of achondroplasia
Short-limbed dwarfism, radiological features of the spine, characteristic face structure
In autosomal dominant disorders, homozygotes typically:
Do not survive infancy (except for Huntington’s)
Neurofibromatosis Type 1 is a _______________ disease
Autosomal dominant
Symptoms or Neurofibromatosis Type 1
Cafe-au-lait spots, neurofibromas, lisch nodules in the eye, learning disabilities
Neurofibromatosis type 1 effects the ________ gene
NF1 (neurofibromin-1)
Marfan syndrome is a ____________ disease
Autosomal dominant
Marfan syndrome symptoms
Disproportionate tall stature, arachnodactyly, skeletal abnormalities, cardiovascular problems
Marfan syndrome effects which gene
FBN1 (formation of elastic fibers in connective tissue
Familiar hypercholesterolemia is a ____________ disease
Autosomal dominant
Familial hypercholesterolemia effects which gene
LDL reception gene
Familial hypercholesterolemia specific mutation:
Loss-of-function mutation
Familial hypercholesterolemia symptoms:
Elevated levels of LDL in plasma (300-400 mg/dL)
Deposition of cholesterol in tendons and skin and arteries
Homozygotes for familial hypercholesterolemia typically:
Die of MI in childhood
Occurrence risk:
The risk of producing an affected child when no children have yet been produced
Recurrence risk
Risk of producing an affected child when one or more children with the disease have already been produced
