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KSUCPM MEDICAL GENETICS > LECTURE VI > Flashcards

LECTURE VI Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

SNPs can lead to?

A 
polymorphism
deletion 
insertion
translocation 
-chromosomal
-balanced/unbalanced
-homologous crossing over
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2
Q

T/F, polymorphisms can have no effect at all?

A

true

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3
Q

this type of SNP is the result of a terminal deletion of the short arm of chromosome 5

A

cri-du-chat syndrome

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4
Q

these medical conditions are the result of having cri-du-chat syndrome?

A

microencephaly
cardiac defects
hypotonia
severe mental retardation

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5
Q

this type of SNP is when you have the insertion of nucleotides?

A

chromosomal insertion

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6
Q

what are the medical conditions that can result from a chromosomal insertion?

A 
huntington disease
myotonic dystrophy
fragile x syndrome
friedreich's ataxia
spinocerebellular ataxia
Charcot-marie-tooth disease (duplication of chromosome 17)
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7
Q

what are the effects of SNP resultant change?

linked SNP outside of gene?

SNP within regulatory region?

SNP within coding region of gene?

A

it depends on where the SNP is found

no effect

modify (expression)

change AA sequence

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8
Q

what are the three types of approaches therapeutic development?

A

human genetics based approach

cardiac oncology approach

traditional bottom up approach

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9
Q

this type of approach studies the inheritable human disease, analysis, than drug development?

A

human genetics based approach

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10
Q

this type of approach takes into account CV complications with targeted cancer therapy, analysis, discovery leading to drug design

A

cardio-oncology approach

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11
Q

this type of approach takes into account the biochemical identification of novel signaling pathway, analysis, drug development and then results based evidence

A

traditional bottom up approach

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12
Q

what type of selected mechanism of allelic action and disease is this?

Waardenburg syndrome results from PAX3 mutation, DNA binding proteins important in regulating embryonic development?

A

loss of function

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13
Q

what type of selected mechanism of allelic action and disease is this?

Charcot marie tooth disease results from deletions in the PMP22 overexpression via duplication

A

gain of function

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14
Q

what type of selected mechanism of allelic action and disease is this?

Kennedy disease results from CAG triplet addition of the androgen receptor. Mutant protein misfolds and interacts improperly

A

protein alteration

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15
Q

what type of selected mechanism of allelic action and disease is this?

retinoblastoma is inherited as recessive allele. A mutation to the second, normal allele resulting in tumor formation

A

dominant effects of recessive allele

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16
Q

results from PAX3 mutation, DNA binding proteins important in regulating embryonic development?

A

Waardenburg syndrome

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17
Q

results from deletions in the PMP22 overexpression via duplication

A

Charcot marie tooth disease

18
Q

results from CAG triplet addition of the androgen receptor. Mutant protein misfolds and interacts improperly

A

Kennedy disease

19
Q

inherited as recessive allele. A mutation to the second, normal allele resulting in tumor formation

A

retinoblastoma

20
Q

this the study of heritable changes that do not involve changers to the underlying DNA sequence thus a change in phenotype without change in genotype?

A

epigenetics

21
Q

what are some epigenetic mechanisms?

A 
development
environment
drugs
aging
diet
22
Q

this syndrome is inherited in an autosomal dominant way

affected by the CREB binding protein

eye, heart, mental retardation, teeth, kidney defects along with thumb and first toe broad tumors

A

Rubinstein-Taybi Syndrome RSTS

23
Q

triplet disorders

Fragile X syndrome
Friedrich ataxis
Huntington Disease

these are examples of what type of inherited disorders?

A

non mendelian inheritance

24
Q

this effect of DNA methylation can lead to perturbations in gene expression or genomic instability?

A

DNA hypomethylation

25
Q

this effect of DNA methylation may promote widespread changes in gene expression patterns through different mechanisms?

A

DNA hypermethylation

26
Q

this condition results in microencephaly, severe developmental delay, mental retardation, speech impairment, ataxia and hadn’t flapping?

loss of maternal contribution

A

Angelman syndrome

27
Q

this condition results in a hypotonic fetus, reduced fetal movement, hyperphagia, morbid obesity, short stature, learning disabilities, hypogonadism. incomplete pubertal development?

loss of paternal contribution

A

Prader-Willi syndrome

28
Q

this is an example of non-mendelian inheritance? both males and females can be affected but only females can transmit the disease to their offspring?

A

mitochondrial inheritance

29
Q

the mutation in this gene is responsible for Waardenburg syndrome?

A

PAX3

30
Q

the mutation in this gene is responsible for Carcot Marie tooth disease?

A

PMP22

31
Q

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian

achondroplasia
marfan syndrome
neurofibromatosis type I
brachydactyly
Noonan syndrome
A

autosomal dominant

mendelian

32
Q

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian

albinism
cystic fibrosis
phenylketonuria
galactosemia
mucopolysaccharidoses
A

autosomal recessive

mendelian

33
Q

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian

hypophosphatemic rickets
orofaciodigital syndrome

A

x-linked dominant

mendelian

34
Q

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian

duchenne
hemophilia A and B
G6P dehydrogenase deficiency
Lesch-Nyhan syndrome

A

x-linked recessive

mendelian

35
Q

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian

fragile x syndrome
myotonic dystrophy
spinocerebellar ataxia
synpolydactyly
Friedreich ataxia
A

triplet repeats

nonmendelian

36
Q

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian

prader willi syndrome
angelman syndrome

A

genomic imprinting

nonmendelian

37
Q

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian

LHON
MERRF
MELAS

A

mitochondrial

nonmendelian

38
Q

the mutation in this gene is responsible for retinoblastoma?

A

RB1

39
Q

the mutation in this gene is responsible for Rubinstein-Taybi Syndrome RSTS

A

CREBBP

40
Q

epigenetic marks are imprinted in the germline and rich in what nucleotide base pairs?

A

C-G

KSUCPM MEDICAL GENETICS (23 decks)

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