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exam 2 review Flashcards

exam 2

1
Q

Turner syndrome usually ends in

A

miscarriage

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2
Q

most common autosomal aneuploidy leading to miscarriage

A

Trisomy 16

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3
Q

Scalp defects (cutis aplasia), microcephaly, micropthalmia, holosencephaly, cleft lip, and palate

  • renal anomalies
  • polydactyly
  • CHD
A

Patau

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4
Q

small size, microcephaly, congenital heart defects, overlapping fingers, rocker bottom feet

A

Edwards

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5
Q

Flat facial profile, upslanted palebral fissures, anomalous ears, nuchal ckin fold, single palmar crease, clinodactyly, hypotonia, hyperflexibility of joints

A

Down syndrome: newborn features s

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6
Q

Lymphedema in infancy, bicuspid aortic valve, coarctation of aorta, short stature, gonadal regression, horseshoe kidney, cubitus valgus elbow, low posterior hairline, webbed neck, widely-spaced hypoplastic nipples

A

turner syndrome

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7
Q

tall- statrue, long limbs, learning disability, gynecomastia, small testicles, infertility due to hypogonadism w/ oligospermia/azoospermia

A

Klinefelter

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8
Q

47, XXY

A

Klinefelter

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9
Q

45, X

A

turner

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10
Q

47, xx+21

A

trisomy 21- down

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11
Q

47,XX+18

A

trisomy 18- edwards

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12
Q

47,xx+13

A

trisomy+13

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13
Q

M1 Block

A

heterodisomy

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14
Q

M2 block

A

isodisomy

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15
Q

loss of material

A

deletion

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16
Q

gain of material

A

duplication

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17
Q

alteration w/in a chromosome

A

inversion

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18
Q

exchange of material between two or more chromosome

A

translocation

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19
Q

hypotonia, intellectual disability, hyperphagia (pathological eating)

A

Prader-willi

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20
Q

lack of paternal allele expression

A

Prader-Willi

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21
Q

severe intellectual disability, movement disorder, seizures

A

angelman

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22
Q

lack of expression of maternal allele

A

angleman

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23
Q

robertsonian translocations chromosomes

A

13,14,15,21,22

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24
Q

results in loss of non-critical genes in the short arm regions of the chromosomes involved

A

robertsonian translocations

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25
Q

46,xy,t(1;8)(p22;q24)

A

balanced

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26
Q

46,xx,der(8)t(1;8)(p22;q24)

A

unbalanced

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27
Q

45,xx,der(13;14)(q10;q10)

A

robertsonian

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28
Q

used to confirm clinical dx such as:

  • trisomy 21
  • large changes
  • balanced translocations
A

karyotype analysis

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29
Q

use for quick answer to specific questions:

  • microdeletion syndrome
  • recurrent acquired translocations
  • recurrent acquired numerical changes
A

FISH analysis

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30
Q

a single nucleotide base changed

A

point mutations

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31
Q

replace one aa with another

A

missense mutation

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32
Q

properties of an aa remain the same

A

conservative

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33
Q

properties of the aa are different

A

non-conservative

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34
Q

create a premature stop codon

A

non-sense mutations

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35
Q

same aa produced despite difference in DNA sequence

A

silent mutations

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36
Q

absence of a portion of DNA sequence (usually in coding DNA or regulatory sequences)

A

Deletions

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37
Q

large deletions often result in the loss of multiple _______ genes

A

contiguous

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38
Q

In deletions, size can vary ____ base pair to millions of base pairs and possibly less damaging if in multiples ____bp

A

In deletions, size can vary 1 base pair to millions of base pairs and possibly less damaging if in multiples 3 bp

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39
Q

a constellation of findings due to a specific deletion that encompasses several genes

A

microdeletion

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40
Q

microdeletion is not visible in

A

karyotype

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41
Q

williams

A

microdeletion

42
Q

type of insertion due to repeated regions of DNA, often whole genes

A

duplications

43
Q

______ of PMP22 on chromosome 17 causes Charcot-Marie-Tooth disease

A

duplication

44
Q

Duplication may be in ____ or ______ elsewhere in the genome and can cause ___________

A

Duplication may be in tandem or sited elsewhere in the genome and can cause microduplication

45
Q

mutations that result in extra DNA-sequence w/in the coding sequence of a gene

46
Q

insertions, range from ___ base pair to _____ of base pairs

A

insertions, range from 1 base pair to million of base pairs

47
Q

some forms of crohn’s disease are associated with an

A

insertion mutation

48
Q

outcome is frequently a stop codon, resulting in truncated polypeptide

A

frameshift mutations

49
Q

frameshift mutation can result from (3)

A
  1. deletions
  2. insertions
  3. splicing errors
50
Q

affect binding of RNA polymerase to promoter site

A

promoter mutation

51
Q

promoter mut., can result in reduced production of _______ and decreased production of a ______

A

promoter mut., can result in reduced production of mRNA and decreased production of a protein

52
Q

Dyskeratosis congenita which causes premature aging and bone marrow disease

A

promoter mutations

53
Q

loss of function (3)

A
  1. null mutations
  2. haploinsufficiency
  3. Dominant Negative
54
Q

requires a very specific mutation

A

Gain of function

55
Q

Classic AR (usually enzyme deficiencies)

A

null mutations

56
Q

AD/incomplete dominance

A

haploinsufficiency

57
Q

50% function is sufficient-carriers are healthy

A

loss of function- AR

58
Q

low density lipoprotein receptor

A

familial hypercholesterolemia

59
Q

familial hypercholesterolemia example of

A

haploinsufficiency

60
Q

one mutated allele of LDLR=somewhat elevated cholesterol levels with increased risk for heart disease

A

haploisufficiency- AD

61
Q

Two mutated alleles of LDLR=very elevated cholesterol levels and early arteriosclerosis w/visible deposits of cholesterol in the skin, eyelids, and cornea

A

haploisufficiency- AR

62
Q

only one mutant gene is necessary (AD); causes new/gain of function of the protein product

A

gain of function-AD

63
Q

Achondroplasia

A

Gain of function

64
Q

A FGFR3 mut., receptor is stuck in the “on” position, which prevents chondrocyte proliferation and short bones

A

gain of function

65
Q

use when looking for large deletions

A

multiple ligation-dependent probe amplification [MLPA]

66
Q

use when phenotype of patient consistent w/ known methylation disorder

A

methylation analysis

67
Q

use to screen when majority of cases have one of a limited number of mutations and may be used for common mutations or ethnicity specific mutations

A

Allele Specific Oligonucleotide (ASO) analysis

68
Q

All of these are point in:

  • confirmation of a clinical dx.
  • presymptomatic dx.
  • preimpantation and prenatal dx.
  • Genotype- phenotype correlation
A

benefits of DNA based testing

69
Q

All of these are point in:

  • genetic heterogeneity
  • allelic disorder
  • variable expression
  • non-partenity
  • concerns regarding genetic discrimination
A

challenges of DNA based testing

70
Q

colorectal cancer- HNPCC

A

lynch syndrom

71
Q

gene mutation is inherited in family; significantly increased cancer risk

A

hereditary

72
Q

multiple genes & environmental factors may be involved; some increase in cancer risk

73
Q

cancer occurs by chance or related to environmental factors; general population cancer risk

74
Q

two acquired mutations

A

sporadic cancer

75
Q

one inherited, one acquired mutation

A

hereditary cancer

76
Q

restrain cell growth

A

tumor suppressor genes

77
Q

maintain correct DNA sequences

A

mismatch repair genes

78
Q

tumor suppressor genes (4)

A
  1. Rb
  2. NF1
  3. p53
  4. APC
79
Q

mismatch repair genes (3)

A
  1. MLH1
  2. MSH2
  3. MSH6
80
Q

which has a better survival rate Patau or edwards?

81
Q

example of a cancer that shows balanced translocation

A

Philadelphia

82
Q

high arch

A

charcot-Marie-tooth disease

83
Q

cGH array:

red=more of the patient DNA

A

duplication

84
Q

cGH array:

green= more of control of DNA

85
Q

single nucleotide polymorphisms

86
Q

SNPs is important to realize that

A

we dont expect the function to be wrong just different

87
Q

a single somatic gene mutation can cause cancer

A

gain of function

88
Q

growth and transcription factors

A

gain of function

89
Q

Oncogenes (3)

A
  1. RET
  2. BCR-ABL
  3. HRAS
90
Q

costello syndrome

91
Q

chronic myeloid leukemia, acute lymphocytic leukemia

92
Q

lung, multiple endocrine neoplasia

93
Q

higher cancer risk is inherited as an

A

autosomal dominant trait

94
Q

one inherited and one inherited mutation

A

hereditary cancer

95
Q

breast, sarcomas, leukemia, and brain

96
Q

breast, pancreatic and ovarian

97
Q

stomach, colon, ovary, uterine/endometrial

98
Q

SNP array we expect _______ and to have ___ copies at eahc position

A

we should expect heterozygosity and two copies at each position

99
Q

SNPs are generally inherited as ______ and SNP can differ in __________

A

SNPs are generally inherited as mendelian and SNP can differ in frequency

100
Q

Both SNP arrays and cGH arrays reports on amount of DNA, with ________ being more easily recognized

A

Both SNP array and cGH arrays reports on amount of DNA, with deletions being more easily recognized

101
Q

SNP array can identify loss of __________ or ___________ but can only identify __________ not ____________

A

SNP array can identify loss of heterozygosity or uniparental disomy but can only identify isodisomy not heterodisomy

102
Q

limitations of array (3)

A
  1. may not detect low lwevel mosaicism
  2. only look at quantity, not location
  3. can not detect, translocations/inversions

Genetics 2 (7 decks)

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