Non-Mendelian Inheritance

Question 1

What are the symptoms of Duchenne’s MD?

Answer 1

Fatigue, Muscle weakness, Progressive difficulty walking

Question 2

How is it decided which X chromsomeis to be inactivated?

Answer 2

It is random

Question 3

What sex is more affected by x-linked dominant conditions?

Answer 3

Males

Question 4

What is mitochondrial homoplasmy? Heteroplasmy?

Answer 4

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

Question 5

What are the symptoms of Glucose 6 Phosphate Dehydrogenase Deficiency?

Answer 5

Hemolytic anemia, paleness, extreme fatigue, tachycardia, rapid breathing or shortness of breath, jaundice, splenomegaly, dark tea-colored urine

Question 6

X inactivation takes place in which sex?

Answer 6

Females

Question 7

What is trinucleotide is expanded in Fragile X?

Answer 7

CGG

Question 8

An inactive X chromosome can be visualized as what structure?

Answer 8

Barr bodies

Question 9

What triplet is expanded in Huntington’s?

Answer 9

CAG

Question 10

What is the chance that the son of a carrier female will inherit the mutant allele of an x-linked recessive disorder?

Answer 10

50%

Question 11

What are the chances that sons of a man affected with an x-linked dominant condition will be affected?

Answer 11

0%

Question 12

How many genes does the mitochondrial genome contain?

Answer 12

37 genes

Question 13

What is genetic anticipation?

Answer 13

When the age of onset of a condition becomes younger with each succesive generation and the severity of the disease increases with each generation

Question 14

What is the mode of inheritance for Friedreich’s Ataxia?

Answer 14

Autosomal recessive

Question 15

What are the symptoms of Friedreich’s Ataxia?

Answer 15

Dysarthria, Ataxia, Heart problems, Muscle weakness/ fatigue, scoliosis

Question 16

Is the mutation rate higher for nuclear or mitochondrial DNA?

Answer 16

mitochondrial

Question 17

What is the mode of inheritance for Rett Syndrome?

Answer 17

X-linked dominant

Question 18

What is the modeof inheritance of Huntington’s Disease

Answer 18

Autosomal dominant

Question 19

What are the symptoms of hypophosphatemic rickets?

Answer 19

Short stature, leg bowing, tooth anomalies

Question 20

What is the mode of inheritance for Duchenne Musclular Dystrophy?

Answer 20

X-linked recessive inheritance

Question 21

What are the chances that offspring of a mother with a mitochondrial disorder will be affected by the condition? Offspring of an affected father?

Answer 21

100%; 0%

Question 22

What gene is mutated in Duchenne’s muscluar dystrophy? What are the functions of the wild-type protein?

Answer 22

Dystrophin; Maintaining muscular cell membrane integrity, and required for assembly of synaptic junctions

Question 23

What are the physical features of fragile x syndrome?

Answer 23

Long face w/ prominent jaw, large ears, macro-orchidism

Question 24

What is the genetic basis of Trinucleotide Expansion disorders?

Answer 24

Expansion of tandem repeats of three base pairs

Question 25

What is the most common human enzyme deficiency?

Answer 25

Glucose-6 Phosphate Dehydrogenase Deficiency

Question 26

What tissues are most heavily impacted by mitcochrondrial disease?

Answer 26

Brain, heart, liver, skeletal muscle, kidney

Question 27

What is the chance that a daughter of a carrier women of an x-linked recessive disorder will be a carrier?

Answer 27

50%

Question 28

What is the pathophysiology of hypophosphatemic rickets?

Answer 28

Decreased reabsorption of phosphate by renal tubules, decreased absorption of calcium and phosphorus from the GI tract

Question 29

What is the mode of inheritance of Hypophosphatemic rickets?

Answer 29

X-linked dominant

Question 30

What is the mode of inheritance for Hemophilia?

Answer 30

X-linked recessive inheritance

Question 31

Which sex is more likely to be affected by an x-linked recessive condition?

Answer 31

Males

Question 32

What is the mode of inheritance of glucose-6-phosphate dehydrogenase deficiency?

Answer 32

X-linked recessive inheritance

Question 33

What are the symptoms of Huntington's? Which regions of the brain are particularly affected?

Answer 33

Dementia, memory loss, choreic movements; Caudate and putamen

Question 34

What trinucleotide is expanded in Friedreich's Ataxia?

Answer 34

GAA

Question 35

What is the most common heritable form of moderate mental retardation?

Answer 35

Fragile X syndrome

Question 36

What are the chances that male offspring of mothers with an x-linked dominant condition will be affected? Female offspring?

Answer 36

50% for both sexes

Question 37

What are the symptoms of Rett Syndrome?

Answer 37

Slowed growth, microcephaly, loss of movement/coordination, abnormal hand/ eye movements, irritability, seizures, scoliosis