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Single-Gene Inheritance

What disorder is determined primarily by the alleles at a single locus? Singly Gene Disorder
If a phenotype is expressed only in Homozygotes or in male hemizygotes for X-linked traits this is known as what? Recessive Inheritance
How does recessive inheritance different from Dominant inheritance? Phenotype expressed in both homozygotes and heterozygotes in Dominant and Recessive only expressed in homozygotes unless its an X-linked trait in a Male.
% of people with a predisposing genotype who are affected or probability that a gene will have an phenotypic expression is known as what? Penetrance
If person A and person B have the same disease causing genotype, and person A is only mildly affected and person B is severely affected, what term describes this severity? Expressivity: /// Ex NF1 - Adult heterozygotes Autosomal Dominant with 100% pernetrance and Variable Expressivity
If one normal allele can compensate for a mutant allele and prevent the disease from occurring what is this called? Autosomal Recessive Inheritance //// carrier is heterozygote (1 normal allele and 1 mutant allele not exhibiting disease)
R/r X R/r what is risk of disease 1/4 affected 25%
R/r X r/r what is the Risk of disease? 1/2 affected 50%
Look at Slide 8 and 9: a line with a triangle connecting to parents symbolizes what? Miscarriage
What Autosomal Recessive disease is described by chloride ion dysfunction leading to thickened secretions, along with maldigestion and malnutrition, airway obsturction and pulmonary infection? Cystic Fibrosis
What aurosomal recessive Disease is a neurological degenerative disorder ~6 months old and is fatal in early childhood? Tay-Sachs Disease
what is the recurrence risk for each sibling of a patient with autosomal recessive disease? 1 in 4 every time they have a baby
A genetic defect on chromosome 4 with neurodegenration, m/c adult onset 30 - 40yrs of age, is Huntington's Disease; is this recessive inheritance or Autosomal Dominant disease? Autosomal //// If patients parent has Huntington's Disease patient has 50% chance of having
What are two more examples of Autosomal Dominant Diseases? Achondroplasia and Familial Hypercholesterolemia
With X-Linked disorders Men/Women have how many possible genotypes? Men: 2 and Women: 3
X-Linked Recessive Inheritance Patterns: Affected male by normal female: what is risk of Daughters and Sons? D: all carriers /// S: All Unaffected
X-Linked Recessive Inheritance Patterns: Normal Male by carrier female: risk D and S? D: 1/2 normal 1/2 carriers // S: 1/2 normal 1/2 affected
X-Linked Recessive Inheritance Patterns: Affected male by carrier female: risk D and S? D: 1/2 carriers, 1/2 affected // S: 1/2 normal, 1/2 affected
What is an example of a X-Linked recessive disorder? Hemophilia A
X linked dominant inheritance pattern is no different from an autosomal dominant pattern in Male or Females? Females
***What is the key difference b/t autosomal dominant inheritance and X-linked dominant inheritance? Lack of male to male transmission in X-Linked dominant inheritance (males transmit the Y chromosome to their sons)
What are two X-Linked Dominant Inheritance diseases? X -Linked Hypophosphatemic Rickets (vitamin D -resistant Rickets) /// Rett Syndrome
Created by: cmuox2000
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