Single-Gene Inheritance
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| What disorder is determined primarily by the alleles at a single locus? | Singly Gene Disorder
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| If a phenotype is expressed only in Homozygotes or in male hemizygotes for X-linked traits this is known as what? | Recessive Inheritance
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| 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.
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| % of people with a predisposing genotype who are affected or probability that a gene will have an phenotypic expression is known as what? | Penetrance
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| 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
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| 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)
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| R/r X R/r what is risk of disease | 1/4 affected 25%
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| R/r X r/r what is the Risk of disease? | 1/2 affected 50%
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| Look at Slide 8 and 9: a line with a triangle connecting to parents symbolizes what? | Miscarriage
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| 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
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| What aurosomal recessive Disease is a neurological degenerative disorder ~6 months old and is fatal in early childhood? | Tay-Sachs Disease
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| what is the recurrence risk for each sibling of a patient with autosomal recessive disease? | 1 in 4 every time they have a baby
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| 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
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| What are two more examples of Autosomal Dominant Diseases? | Achondroplasia and Familial Hypercholesterolemia
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| With X-Linked disorders Men/Women have how many possible genotypes? | Men: 2 and Women: 3
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| X-Linked Recessive Inheritance Patterns: Affected male by normal female: what is risk of Daughters and Sons? | D: all carriers /// S: All Unaffected
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| 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
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| 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
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| What is an example of a X-Linked recessive disorder? | Hemophilia A
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| X linked dominant inheritance pattern is no different from an autosomal dominant pattern in Male or Females? | Females
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| ***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)
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| What are two X-Linked Dominant Inheritance diseases? | X -Linked Hypophosphatemic Rickets (vitamin D -resistant Rickets) /// Rett Syndrome
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cmuox2000
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