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Molecular Biology Prelims > Inherited Molecular Disease > Flashcards

Inherited Molecular Disease Flashcards

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1
Q

It is a starting genomics and a digital nucleic acid sequence
database. It can be a gene of one species or a combination of different
organisms.

A

Gene reference sequence

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2
Q

provides gene reference sequences.

A

National Center for Biotechnology Information

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3
Q

It has a single base substitution at an individual site of DNA
sequence. Here we can see that your C was replaced by T
(substitution).

A

Single nucleotide polymorphism

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4
Q

there is a missing nucleotide. In the example, the C
was deleted or missing

A

Gene deletion

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5
Q

Inverted gene sequence

A

it is the rearrangement causing a segment of DNA to be in reverse
orientation. and has improper
positioning/arrangement of the gene sequence

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6
Q

you can see a multiple copy of a nucleotide

A

Copy number variant

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7
Q

segment of DNA more than 50 kb in size. It copies/duplicates
much longer compared to segmental duplication

A

Large scale copy number variant

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8
Q

segment of DNA is 1 kb in size usually occurs in 2 or more copies
per haploid genome. Segment of DNA is 1 kb and can be copied
at least 1 or more.

A

Segmental duplication

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9
Q

3 main categories of single gene disorder

A

→ Autosomal dominant
→ Autosomal recessive
→ X-linked

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10
Q

single gene disorder follows what law?

A

mendelian inheritance pattern

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11
Q

we have one affected parent. 50% chances to be
inherit by the offspring

A

X-linked dominant

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12
Q

either one parent is a carrier. produces carrier
offspring and has a very little chance to produce affected offspring

A

X-linked recessive

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13
Q

Most frequently encountered type of genetic dwarfism
Characterized by a disproportionately short stature and other skeletal
abnormalities resulting from a defective gene encoding for fibroblast
growth factor receptor 3 (FGFR3)

A

Achondroplasia

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14
Q

a protein called ??? that is
involved in converting cartilage to bone

A

fibroblast growth factor receptor 3

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15
Q

Explain the mutation of Achondroplasia

A

guanine at 380 codons is substituted by either adenine or cytosine at cDNA position1138

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16
Q

An inherited condition that causes low levels of, or no, alpha-1 antitrypsin
(AAT) in the blood , Autosomal codominantly inherited disease that predominantly affects the
lungs and liver

A

Alpha-1-antitrypsin deficiency

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17
Q

Where does mutation happen in Alpha-1-antitrypsin deficiency

A

chromosome 14

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18
Q

Lab diagnosis for Alpha-1-antitrypsin deficiency

A

real time PCR and direct sequencing

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19
Q

is a protein that protects your lungs and is
secreted or produced by your live

A

Alpha-1 antitrypsin

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20
Q

Is one of the most common forms of polycystic kidney disease
* Is a genetic disorder characterized by the growth of numerous fluid-filled
cysts in both kidneys
* Autosomal dominant

A

autosomal Polycystic Kidney Disease

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21
Q

tyoe of PKD which mutation is on chromosome 16 (associated in approx..85% of individuals with PKD)

A

PKD1

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22
Q

tyoe of PKD which mutation is on chromosome 4 (about 15% of individuals)

A

PKD2

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23
Q

is the most common method to diagnose
patients with autosomal polycystic kidney disease.

A

Genetic linkage analysis

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24
Q

Deletion of three nucleotides in exon 10 the CFTR gene that leads to
loss of the amino acid phenylalanine at codon 508

A

Cystic fibrosis

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25
Q

used to detect or know who has cystic
fibrosis (according to the book, it is commonly used to screen for cystic
fibrosis).

A

Allele-specific hybridization

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26
Q

The healthy individuals are ??? for the wild-type allele and
??? for the CFTR alleles, whereas those affected by the
disease carry two mutant alleles

A

homozygous; heterozygous

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27
Q

Hybridization is detected by measuring fluorescence emitted by the
? attached to the probe.

A

fluorophore

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28
Q

Result of CFTR

A

leads to microbial pathogen colonization in the lungs,

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29
Q

A congenital anomaly of the sixth cranial nerve nuclei with aberrant
innervation supplied from the third cranial nerve.

A

Duane’s Retraction Syndrome

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30
Q

Duane’s Retraction Syndrome is An autosomal dominant trait in which unique heterozygous missense
mutations are found in the

A

CHN1 gene.

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31
Q

Duane’s Retraction Syndrome is tested by ?

A

Direct Sequencing

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32
Q

most effective way
for detection of DMD

A

Multiplex Ligation-Dependent Probe Amplification

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33
Q

Individuals who have ? have progressive loss of muscle function
and weakness, which begins in the lower limbs

A

Duchenne Muscular Dystrophy

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34
Q

is the largest gene in the human genome, spanning
2.4Mb and containing 79 exons

A

Dystrophin

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35
Q

size of Dystrophin protein

A

427 kDa dystrophin protein

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36
Q

Is the most common monogenic cause of intellectual disability and
autism
X chromosome-linked recessive trait

A

Fragile X-syndrome

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37
Q

Normally we have ? expansions of the CGGs, but in Fragile X
syndrome, there is 200 or more repeated expansions of CGGs.

A

40

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38
Q

mutation in Fragile X
syndrome

A

mutations in the fragile X mental
retardation 1 (FMR1) gene
there is 200 or more repeated expansions of CGGs. arginine

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39
Q

The gold standard fragile X test is ? which
allows concurrent detection of large CGG-repeat expansions and
determination of its methylation status.

A

Southern blot analysis

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40
Q

Alternatively, ? approaches can be used to characterize
CGG-repeat size and/or AGG-interruption patterns

A

PCR

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41
Q

A bleeding disorder that slows down the blood cclotting process
* X-linked recessive disorder

A

Hemophilia

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42
Q

FVIII gene mutation

A

hemophilia A

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43
Q

FIX gene mutation

A

hemophilia B

44
Q

Autosomal dominant genetic
* A progressive neurodegenerative disorder that presents with motor
symptoms, cognitive impairment, and psychiatric disturbances
* Caused by the abnormal expansion of CAG repeats in the HTT gene

A

Huntington’s Disease

45
Q

n HD gene, the glutamine chain has abnormal huntington with more than
? glutamine residues

A

36

46
Q

Between ? glutamine residues, incomplete penetrance allele can be diagnosed with HD,
might or may not develop HD, or increased risk for HD

A

36-39 glutamine residues

47
Q

? complete penetrance of the allele is diagnosed with HD, will
develop HD, and has increased risk for HD

A

40 or more glutamine residues

48
Q

Method of choice for Huntington’s disease is ? , but it should be run together with PCR

A

TP-PCR or triplet repeat
Primed PCR

49
Q

This gene is coded to produce Fibrillin-1 which is needed for making
microfilaments that help with structure

A

FBN1 gene

50
Q

Most common symptom of Marfan Syndrome is

A

myopia

51
Q

Individuals with Marfan Syndrome has increased risk of having

A

glaucoma
and early cataract formation

52
Q

What is used to identify Marfan Syndrome

A

Single-Strand Conformation
Polymorphism (SSCP),
Denaturating High Performance Liquid
Chromatography, and
Direct sequencing

53
Q

One of the most common inherited disorders of connective tissue

A

Marfan Syndrome

54
Q

Caused by a mutation in the hemoglobin-β gene found on
chromosome 11

A

Sickle Cell Disease

55
Q

mutation in sickle cell disease

A

there is a mutation
or replacement to valine in chromosome 11 which leads to sickle cell
disease

56
Q

lab test for sickle cell disease

A

Sickle Solubility testing, Hemoglobin Electrophoresis, HPLC, and IEF

57
Q

Autosomal recessive inherited diseases of the blood that affect a
person’s ability to produce hemoglobin, resulting in anemia

A

thalassemia

58
Q

characterized by reduced or absence of αglobin chain synthesis and is caused mainly by deletions in the αglobin gene complex located on Chromosome 16

A

Alpha-thalassemia

59
Q

characterized by reduced or absence of βglobin chains located on Chromosome 11

A

Beta-thalassemia

60
Q

These disorder can be detected through PCR and High-Resolution melting analysis

A
61
Q

Treatment of thalassemia is usually

A

blood transfusion

62
Q

A fatal autosomal recessive genetic disorder, most commonly occurring
in children
* Caused by mutations in the HEXA (hexosaminidase-A) gene localized
on chromosome 15

A

Tay-Sachs Disease

63
Q

Three different forms of Tay-Sachs Disease

A

classic infantile, juvenile, and adult late-onset

64
Q

differentiate classic infantile and juvenile form of Tay-Sachs Disease

A

Classic infantile
→ The most common causes macular cherry red spots, blindness,
intractable seizures, and paralysis
Juveniles and Adult forms
→ Are very rare with a later onset and slower course
▪ Juvenile or subacute GM2 gangliosidosis is characterized by gait
disturbances, incoordination, speech problems, and intellectual
impairment

65
Q

Can be used to detect common mutations by using normal and mutant
primers as reverse primers and common forward primers
used for Tay-Sachs Disease

A

Amplification Refractory Mutation System-Polymerase Chain Reaction

66
Q

Genetic disorders are ? when they are associates with the
effects of many genes.

A

polygenic

67
Q

Such disorders also can be ? because they do not follow
simple Mendelian pattern of inheritance and can be influenced by
several different lifestyle and environmental factors

A

multifactorial

68
Q

true or false
An individual’s genetic background usually is sufficient to cause the
disorder in most polygenic disorders and render an individual more
susceptible to the disorder

A

false, should be not sufficient

69
Q

Currently used to map polygenic disease

A

– GENOME WIDE ASSOCIATION

70
Q

principle of – GENOME WIDE ASSOCIATION

A

Genotyping of hundreds of thousands of genetic variants and
comparison of allele distributions between cases with a disease and
controls without the disease.

71
Q

Give the POLYGENIC DISORDERS

A

Alcohol Dependence
* Charcot-Marie-Tooth Disease
* Cri du chat Syndrome
* Cardiovascular Disease

72
Q

Alcohol metabolizing enzyme genes:

A

ALDH2:
ADH1B:

73
Q

Alcohol metabolizing enzyme genes: East Asian populations

A

ALDH2

74
Q

Alcohol metabolizing enzyme genes: European-American

A

ADH1B

75
Q

Alcohol metabolizing enzyme genes: African- American
populations

A

ADH1B

76
Q

most common inherited neuromuscular disorder
* symptoms include slowly progressive distal muscle weakness,
muscle atrophy, and sensory loss of the lower and then upper limbs

A

CHARCOT-MARIE-TOOTH DISEASE

77
Q

it is also called hereditary sensory and motor neuropathy

A

CHARCOT-MARIE-TOOTH DISEASE

78
Q

CHARCOT-MARIE-TOOTH DISEASE two main groups:

A

→ Demyelinating type (CMT1)
→ Axonal type (CMT2)

79
Q

differentitate CMT1 AND CMT2

A

→ Demyelinating type (CMT1) - loss of myelin on peripheral neurons
→ Axonal type (CMT2) - loss of peripheral neurons

80
Q

CMT1 – most common gene

A

PMP22

81
Q

CMTX – most common gene

A

GJB1

82
Q

The majority of patients with CMT have ?
inheritance, although many will have forms with X-linked (CMTX) or
autosomal recessive (AR) (CMT4) inheritance.

A

autosomal dominant

83
Q

The three next most common genetic forms of CMT are those caused
by ? ? ?

A

GJB1, MPZ, and MFN2.

84
Q

also known as 5p-syndrome and cat cry syndrome

A

Cri Du Chat Syndrome

85
Q

Cri Du Chat Syndrome Hallmark features:

A

o high-pitched monotonous cry –reason for “cat cry”
syndrome
o low birth weight
o microcephaly
o hypotonia – weak muscles
o poor growth
o developmental delay

86
Q

Cri Du Chat Syndrom is Diagnosed by a combination of

A

microarray and FISH analyses

87
Q

a rare genetic condition caused by the deletion of genetic material on
the small arm (the p arm) of chromosome 5

A

Cri Du Chat Syndrom

88
Q

GWAS used to examined cardiovascular aging markers: 42 genetic loci
identified

A

o 16: associated with known risk factors
o 10: associated with increased LDL
o 5: with increased BP
o 4: with increased TAG
o 7: with decreased HDL

89
Q

It is a leading cause of morbidity and mortality in developed
countries, has a significant genetic background.

A

cardiovascular disease

90
Q

By the dysfunction of the mitochondria, it will lead/characterized by
? production leading to
oxidative stress

A

increased ROS (Reactive Oxygen Species)

91
Q

Problem with ATP in kidnet causes

A

– Fanconi’s syndrome

92
Q

Problem with ATP in Blood causes

A

– Pearson’s syndrome

93
Q

Problem with ATP in Pancreas causes

A

– diabetes mellitus

94
Q

Problem with ATP in liver causes

A

– hepatopathy

95
Q

Problem with ATP in eye causes

A

optic neuropathy

96
Q

Problem with ATP in heart causes

A

cardiomyopathy

97
Q

most common hereditary optic neuropathy that severely impairs
vision

A

DOMINANT OPTIC ATROPHY

98
Q

caused by a loss of retinal ganglion cells located only in the inner retina
and projecting their axons via the optic nerve to the brain

A

DOMINANT OPTIC ATROPHY

99
Q

is multifunctional protein located within the mitochondrial inner
membrane, which regulates a number of critical cellular functions

A

OPA1

100
Q

caused by autosomal recessive mutations in mitophagy related
proteins, such as PINK1 and Parkin

A

Parkinson’s Disease

101
Q

accumulation of ? resulting in an excessive
mitochondrial fission, oxidative stress and reduced ATP production

A

Drp1

102
Q

True or false
Mutations in α-synuclein (SNCA) and leucine-rich repeat kinase2
(LRRK2) genes are responsible for late-onset disease of parkinson

A

True or false

103
Q

True or false
Parkin (PARK2), ubiquitin carboxy-terminal hydrolase L1 (UCHL1), PTEN Induced Putative Kinase1 (PINK1), oncogene DJ1 (DJ1)
are responsible for early onset.

A

True

103
Q

usually an isoprocess of selective removal of damage or
unnecessary mitochondria. (

A

Mitophagy

104
Q

Parkinson’s disease can be diagnosed by

A

PCR, MLPA or NextGeneration Sequencing.

Molecular Biology Prelims (9 decks)

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