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MUSC Physiology > EXAM 3 Medical Genetics > Flashcards

EXAM 3 Medical Genetics Flashcards

1
Q

X-linked recessive disorders

A
  • duchess muscular dystrophy

- hemophilia A and B

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2
Q

most common hemophilia

A

hemophilia A

90%

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3
Q

what is hemophilia A associated with

A

factor VIII deficiency

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4
Q

symptoms of hemophilia A

A

tendency toward easy bruising and massive hemorrhage after trauma

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5
Q

Who does hemophilia A occur in

A
  • males

- homozygous females

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6
Q

is hemophilia A common or rare

A

rare - about 18,000 persons in US have hemophilia; about 400 new cases each year

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7
Q

what kind of penetrance of hemophilia a

A

variable - variable effect of defective alleles

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8
Q

severe disease of hemophilia a

A

Factor VIII levels of less than 1-2% normal

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9
Q

what can someone experience with severe disease of hemophilia a

A

spontaneous bleeding into joints and muscles

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10
Q

moderate disease of hemophilia a

A

factor VIII levels of 2-5% normal

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11
Q

what can someone experience with moderate disease of hemophilia a

A

spontaneous bleeding

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12
Q

mild disease of hemophilia a

A

factor VIII levels of 5-50% normal

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13
Q

what does someone usually experience with mild disease of hemophilia a

A

bleeding following trauma or surgery

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14
Q

X-linked dominant disorders

A
  • X-linked hypophosphatemia
  • focal dermal hypoplasia
  • CHILD syndrome
  • Rett syndrome
  • Fragile X syndrome
  • Incontinentia pigmenti
  • Lujan–Fryns syndrome
  • Orofaciodigital syndrome
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15
Q

who is transmission of maternal inheritance

A
  • affected women transmit to all offspring

- affected men do NOT transmit to offspring

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16
Q

what results in in malfunctions of the respiratory chain for oxidative phosphorylation

A

mitochondrial inheritance

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17
Q

what kind of inheritance is mitochondrial inheritance

A

maternal inheritance

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18
Q

what reflects the extent of oxidative phosphorylation in the tissue

A

phenotypic effects

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19
Q

what organs/systems are most affected by extent of oxidative phosphorylation

A
  • CNS is most sensitive

- followed by skeletal muscle, heart muscle, kidney, liver

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20
Q

mitochondrial inheritance diseases

A
  • Leber’s hereditary optic neuropathy (LHON)
  • Myocolonic epilepsy and ragged red fiber disease (MERRF)
  • Kearns-Sayre syndrome
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21
Q

loss of vision and cardiac dysrhythmia

A

Leber’s hereditary optic neuropathy (LHON)

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22
Q

central nervous system abnormalities and deficiencies of skeletal and cardiac muscle function

A

Myoclonic epilepsy and ragged red fiber disease (MERRF)

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23
Q

neuromuscular symptoms including paralysis of eye muscles, dementia, and seizures

A

Kearns-Sayre syndrome

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24
Q

complex/multifactoral disorders

A

chronic diseases

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25
Q

what 2 things are most chronic diseases affected by

A

both genetic and environmental factors

26
Q

examples of complex inherited disorders/chronic diseases

A

diabetes, CVD, asthma, cancer, dyslipidemia

27
Q
  1. number of chromosomes in body

2. number of pairs

A

46

23

28
Q

___ indicates only one set of chromosomes

A

haploid

29
Q

____ indicates two sets of chromosomes

A

diploid

30
Q

_____ refers to gain or loss of single chromosomes (ex, 45 or 47 chromosomes in somatic cells

A

aneuploidy

31
Q

alternate forms of a gene

A

allele

32
Q

where are alleles found?

A

on homologous chromosomes

33
Q

what are homologous chromosomes?

A

chromosomes that carry the same genes (ex 2 copies of chromosome 3)

34
Q

homologous chromosomes that differ

A

heterozygous

35
Q

homologous chromosomes that are the same

A

homozygous

36
Q

what is genotype?

A

the combination of alleles present?

37
Q

what is phenotype?

A

the expression pattern of a combined genotype

38
Q

what is phenotype dependent on?

A

genotype and environment

39
Q

sporadic mutations usually result in what type of disease?

A

autosomal dominant

40
Q

in autosomal dominant disorders, what percent of children will develop the condition

A

50%

41
Q

type of disorders that tend to affect structural proteins

A

autosomal dominant disorders

42
Q

how many defective alleles are needed to result in disease in autosomal dominant disorders?

A

Only one copy of a defective allele is needed

43
Q

autosomal dominant disorders- nervous system

A

huntington disease
neurofibromatosis
motonic dystrophy
tubercous sclerosis

44
Q

autosomal dominant disorders- urinary

A

polycystic kidney disease

45
Q

autosomal dominant disorders- GI

A

familial polyposis coli

46
Q

autosomal dominant disorders- hematopoietic

A

hereditary spherocytosis

vin willebrand disease

47
Q

autosomal dominant disorders- skeletal

A

marfan syndrome
Ehlers-danlos syndrome
osteogenesis imperfecta
achondroplasia

48
Q

autosomal dominant disorders- metabolic

A

familial
hypercholesterolemia
acute intermittent porphyria

49
Q

Marfan Syndrome % familial

A

70%-85% familial

50
Q

Marfan Syndrome % sporatic (new mutations)

A

15%-30% sporatic (new mutations)

51
Q

Marfan Syndrome occurs in how many people?

A

1:5000

52
Q

Marfan Syndrome has defect in what protein?

A

fibrillin-1

53
Q

Marfan Syndrome is Disorder in ________ tissues

A

connective tissues

54
Q

where is fibrillin-1 found in body?

A

Protein product is found in extracellular matrix proteins, especially in aorta, ligaments, ciliary zonules of the lens

55
Q

fibrillin-1 is Necessary for _____.

A

elasticity

56
Q

symptoms of Marfan syndrome

A

Lax joints, unusually tall, long extremities, including digits, spinal deformities (kyphosis, scoliosis), pectus excavatum, ectopia lentis, MVP, aortic valve incompetence, aorta weakening

57
Q

High risk of aortic dissection (especially thoracic) occurs in what autosomal dominant disease?

A

Marfan syndrome

58
Q

Autosomal Recessive Disorders occurs when (both or one) allele/s code for the disorder

A

both

59
Q

Autosomal Recessive Disorders Tend to result from failures in genes that code for _______.

A

enzymes, receptors, transporters

60
Q

in Autosomal Recessive Disorders, A person who has inherited the defective gene from only one parent often is _____.

A

disease-free

MUSC Physiology (12 decks)

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