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Test1GeneticsWk3
Single-Gene Inheritance
| Question | Answer |
|---|---|
| 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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