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AU17: Gen Pathology > Genetic Disease > Flashcards

Genetic Disease Flashcards

1
Q

How many protein-encoding genes are in the human genome?

A

19,000

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2
Q

T/F: Permanent change in the germ cells can be inherited.

A

True

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3
Q

Permanent DNA damage in the _______ cells may result in a tumor or developmental abnormality.

A

Somatic

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4
Q

Autosomal dominant, autosomal recessive, and sex-linked disorders are all __________ disorders.

A

Mendelian

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5
Q

What are cytogenetic disorders?

A

Involve chromosomal aberrations: autosomes or sex chromosomes

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6
Q

T/F: Different mutations at different spots on a gene will always have unique manifestations.

A

FALSE

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7
Q

Huntington’s disease is an autosomal __________ disorder.

A

Dominant

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8
Q

What is incomplete penetrance?

A

Person has a mutant gene but doesn’t or only partially extremes it phenotypically

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9
Q

What is variable expressively?

A

Expression can be identified in all affected persons, but to differing extents

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10
Q

What is a new or “de novo” mutation?

A

Neither parent affected/no family history

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11
Q

What is an example of an autosomal dominant disease withe variable expressivity?

A

Neurofibromatosis

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12
Q

What is the largest group of Mendelian disorders?

A

Autosomal recessive

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13
Q

Many AR conditions are ________ defects, leading to __________ dysfunction.

A

Enzyme; metabolic

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14
Q

What one trait may be linked to the Y chromosome?

A

Hairy ears

NO DISEASES

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15
Q

T/F: In x-linked disorders, women will more often express the disease.

A

FALSE

Women have another X-chromosome to protect them.

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16
Q

What is a common example of an X-linked disorder?

A

Hemophilia A

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17
Q

Describe lyonizations and unfavorable lyonizations?

A

Lyonization: one of the X chromosomes from the mom will be inactivated (normally results in mixture of active maternal and paternal X chromosomes)

Unfavorable lyonizations: inactivation of high number of normal X chromosomes may result in X-linked disease expression in a heterozygous female

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18
Q

Marian syndrome is an ___ disorder involving in a mutation with the ______ gene.

A

AD; FBN1

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19
Q

What are some complications of Marfan syndrome?

A

Aortic aneurysm and dissection

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20
Q

Which disease causes a problem with collagen synthesis? These patients may be circus performers due to their stretchable skin.

A

Ehlers-Danlos Syndromes

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21
Q

Familial hypercholesterolemia is due to a genetic disorder of the ____ receptor.

A

LDL

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22
Q

Cystic fibrosis is caused by a genetic disorder of the _______ channel protein.

A

chloride

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23
Q

Familial hypercholesterolemia is seen in how many people?

A

1 in 500

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24
Q

Patients will develop early atherosclerosis, especially if they are homozygous, for which disease?

A

Familial hypercholesterolemia

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25
Q

A 20 year old patient dies of myocardial infarction due to an atherosclerosis. Which disease lead to this?

A

Homozygous for familial hypercholesterolemia

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26
Q

Phenylketonuria, galactosemia, and lysosomal storage diseases are all caused by mutations in _______ proteins.

A

Enzyme

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27
Q

Phenylketonuria is an ____ disorder. It will often cause ______________ by 6 months of birth.

A

AR; mental retardation

28
Q

How would you treat phenylketonuria?

A

Restrict diet of phenylalanine

29
Q

Accumulation of large insoluble molecules in macrophages leads to neuronal damage and other neural problems in a young child. What is the disorder?

A

Lysosomal storage disease - mutated enzyme

30
Q

Mucopolysaccharide storage disease is a type of _________ storage disease?

A

Lysosomal

31
Q

Which disease is caused by a deficiency of alpha-L-iduronidase?

A

Hurler Disease

32
Q

________ is an X-linked disease caused by a deficiency of L-iduronate sulfatase.

A

Hunter

33
Q

T/F: Hunter disease often has a much better outlook than Hurler disease.

A

TRUE

34
Q

How many newborns has a chromosomal abnormality?

A

1 in 200

35
Q

A normal chromosome count (2 x 23 = 46) is termed _________?

A

Euploid

36
Q

An increase in chromosome count that is a multiple of that normally seen (i.e. 3 x 23) is termed __________ and generally results in abortion.

A

polyploidy

37
Q

Any number that is not an exact multiple of the normal chromosome count is termed _______.

A

Aneuploidy

38
Q

Having one extra chromosome is termed _________.

A

Trisomy

39
Q

Having one less chromosome is termed _________>

A

Monosomy

40
Q

____________ is transfer of a part of one chromosome to another nonhomologous chromosome.

A

Translocation

41
Q

When fragments are exchanged between two chromosomes it is termed _________ translocation.

A

Reciprocal

42
Q

_________ is the loss of a portion of a chromosome.

A

Deletion

43
Q

__________ is when the chromosome breaks in two points, then the released fragment is reunited after a complete turnaround.

A

Inversion

44
Q

What is trisomy 21?

A

Down Syndrome

45
Q

What are the odds of having a child with Down Syndrome if a mother is over 45 years old?

A

1 in 25

46
Q

What is Klinefelter syndrome?

A

Sex chromosome disorder where the patient is phenotypically male but genotype is XXY

47
Q

Female hypogonadism is a major symptom of ___________.

A

Turner syndrome

48
Q

What are some prenatal indications for genetic analysis?

A
  1. Mothers age >40
  2. Parent is carrier
  3. Hx of previous child with abnormality
49
Q

Postnatal indications for genetic analysis?

A
  1. Multiple congenital abnormalities
  2. Infertility
  3. Multiple miscarriages
  4. Unexplained developmental problems
  5. Suspected aneuploidy
50
Q

What is the major symptom of Klinefelter syndrome?

A

Hypogonadism and sterility

51
Q

What is a dental related symptom of Klinefelter syndrome?

A

Taurodontism = enlarged pulp

52
Q

What is different about the genotype of someone with Turner syndrome?

A

Only has one X chromosome

53
Q

What are some symptoms of Turner syndrome?

A
  1. Short
  2. Shield-like chest
  3. High arched palate
  4. Cardiovascular problems
  5. No secondary sex characteristics
54
Q

What is a point mutation and example of disease from point mutation?

A

Single nucleotide base. Sickle cell

55
Q

What is a frame shift mutation?

A

Insertion or deletion of 1 or 2 base pairs, altering the reading frame of DNA

56
Q

What is a trinucleotide repeat mutation and an example of a disease?

A

Amplification of sequence of 3 nucleotides. Fragile X syndrome

57
Q

What are epigenetic changes?

A

Modulation of gene expression without altering DNA sequence

58
Q

What happens when promoter regions are methylated? This is an example of what?

A

Makes them inaccessible to RNA polymerase = reduced expression.

Epigenetics

59
Q

When is the age of onset typically for AR diseases?

A

Early in life

60
Q

T/F: Complete penetrance is common in autosomal recessive disease.

A

True

61
Q

What may cause a heterozygous female to demonstrate full expression of a X-linked disease?

A

Unfavorable lyonization

62
Q

Who would be affected by an X-linked dominant disorder?

A

Heterozygous, homozygous, and hemizygous

63
Q

What is an example of an X-linked dominant disorder?

A

Oral-Facial-Digital syndrome

64
Q

What are some examples of Lysosomal Storage diseases?

A
  1. Tay-sachs
  2. Niemann-Pick
  3. Gaucher
  4. Mucopolysaccharidoses
65
Q

What are three ways to diagnose genetic diseases?

A
  1. Fluorescence in situ hybridization (FISH) - recognize specific sequences
  2. Comparative genomic hybridization - compare to normal DNA
  3. Molecular diagnosis (PCR, restrictions enzyme, fluorescence)

AU17: Gen Pathology (22 decks)

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