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Genetics > Non-Mendelian Inheritance > Flashcards

Non-Mendelian Inheritance Flashcards

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1
Q

What are the symptoms of Duchenne’s MD?

A

Fatigue, Muscle weakness, Progressive difficulty walking

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2
Q

How is it decided which X chromsomeis to be inactivated?

A

It is random

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3
Q

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

A

Males

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4
Q

What is mitochondrial homoplasmy? Heteroplasmy?

A

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

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5
Q

What are the symptoms of Glucose 6 Phosphate Dehydrogenase Deficiency?

A

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

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6
Q

X inactivation takes place in which sex?

A

Females

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7
Q

What is trinucleotide is expanded in Fragile X?

A

CGG

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8
Q

An inactive X chromosome can be visualized as what structure?

A

Barr bodies

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9
Q

What triplet is expanded in Huntington’s?

A

CAG

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10
Q

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

A

50%

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11
Q

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

A

0%

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12
Q

How many genes does the mitochondrial genome contain?

A

37 genes

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13
Q

What is genetic anticipation?

A

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

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14
Q

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

A

Autosomal recessive

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15
Q

What are the symptoms of Friedreich’s Ataxia?

A

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

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16
Q

Is the mutation rate higher for nuclear or mitochondrial DNA?

A

mitochondrial

17
Q

What is the mode of inheritance for Rett Syndrome?

A

X-linked dominant

18
Q

What is the modeof inheritance of Huntington’s Disease

A

Autosomal dominant

19
Q

What are the symptoms of hypophosphatemic rickets?

A

Short stature, leg bowing, tooth anomalies

20
Q

What is the mode of inheritance for Duchenne Musclular Dystrophy?

A

X-linked recessive inheritance

21
Q

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

A

100%; 0%

22
Q

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

A

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

23
Q

What are the physical features of fragile x syndrome?

A

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

24
Q

What is the genetic basis of Trinucleotide Expansion disorders?

A

Expansion of tandem repeats of three base pairs

25
Q

What is the most common human enzyme deficiency?

A

Glucose-6 Phosphate Dehydrogenase Deficiency

26
Q

What tissues are most heavily impacted by mitcochrondrial disease?

A

Brain, heart, liver, skeletal muscle, kidney

27
Q

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

A

50%

28
Q

What is the pathophysiology of hypophosphatemic rickets?

A

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

29
Q

What is the mode of inheritance of Hypophosphatemic rickets?

A

X-linked dominant

30
Q

What is the mode of inheritance for Hemophilia?

A

X-linked recessive inheritance

31
Q

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

A

Males

32
Q

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

A

X-linked recessive inheritance

33
Q

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

A

Dementia, memory loss, choreic movements; Caudate and putamen

34
Q

What trinucleotide is expanded in Friedreich’s Ataxia?

A

GAA

35
Q

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

A

Fragile X syndrome

36
Q

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

A

50% for both sexes

37
Q

What are the symptoms of Rett Syndrome?

A

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

Genetics (7 decks)

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