Non-Mendelian Inheritance Flashcards
What are the symptoms of Duchenne’s MD?
Fatigue, Muscle weakness, Progressive difficulty walking
How is it decided which X chromsomeis to be inactivated?
It is random
What sex is more affected by x-linked dominant conditions?
Males
What is mitochondrial homoplasmy? Heteroplasmy?
In mitochondrial homoplasmy, a cell has a uniform collection of mtDNA: either completely normal mtDNA or completely mutant mtDNA; heteroplasmy is a mix of mutant and normal mtDNA
What are the symptoms of Glucose 6 Phosphate Dehydrogenase Deficiency?
Hemolytic anemia, paleness, extreme fatigue, tachycardia, rapid breathing or shortness of breath, jaundice, splenomegaly, dark tea-colored urine
X inactivation takes place in which sex?
Females
What is trinucleotide is expanded in Fragile X?
CGG
An inactive X chromosome can be visualized as what structure?
Barr bodies
What triplet is expanded in Huntington’s?
CAG
What is the chance that the son of a carrier female will inherit the mutant allele of an x-linked recessive disorder?
50%
What are the chances that sons of a man affected with an x-linked dominant condition will be affected?
0%
How many genes does the mitochondrial genome contain?
37 genes
What is genetic anticipation?
When the age of onset of a condition becomes younger with each succesive generation and the severity of the disease increases with each generation
What is the mode of inheritance for Friedreich’s Ataxia?
Autosomal recessive
What are the symptoms of Friedreich’s Ataxia?
Dysarthria, Ataxia, Heart problems, Muscle weakness/ fatigue, scoliosis