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Neo Boards > Genetics > Flashcards

Genetics Flashcards

1
Q

DNA composition:

A

Double helix, nitrogen bases with deoxyribose-phosphate backbone
A- adenosine

C-cytosine

G-guanine

T-Thymine

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2
Q

RNA composition:

A

Single strand, nitrogen bases with ribose-phosphate backbone
A- adenine

C-cytosine

G- guanine

U- uracil

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3
Q

How is messenger RNA formed?

A

DNA transcribed–>

Primary mRNA–>

Splicing (introns removed)–>

Mature mRNA

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4
Q

What was ribosomal RNA do?

A

Part of the ribosome

Binds mRNA and tRNA to the ribosome

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5
Q

What does transfer RNA do?

A

Transports amino acids
Translates mature mRNA
Anticodon (at 3’ end) binds complementary mRNA codon

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6
Q

What is transcription?

A

Synthesis of an mRNA sequence from a DNA template

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7
Q

What is DNA polymerase?

A

Enzyme that utilizes complementary DNA strand as a template to create a new strand

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8
Q

What is RNA polymerase?

A

Enzyme that binds a promoter region to synthesize mRNA from the DNA template

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9
Q

What is reverse transcriptase?

A

Enzyme that transcribes RNA into DNA

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10
Q

A telomere is

A

The distal end of a chromosome that maintains integrity and stability

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11
Q

Mature mRNA is made from

A

Primary mRNA transcribed from DNA

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12
Q

The DNA segment between exons that is spliced out in mature mRNA

A

Intron

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13
Q

The DNA sequence transcribed to mature mRNA for ultimate gene material is

A

Exon

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14
Q

DNA transcription starts at

A

Promotor

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15
Q

Assembly of amino acids from mRNA and tRNA to protein is called

A

Translation

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16
Q

Identification of a DNA sequence by amplification then isolation of a specific sequence is

A

PCR

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17
Q

Southern analysis is

A

DNA identification with electrophoresis

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18
Q

Northern analysis is

A

Electrophoresis to identify RNA

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19
Q

Western analysis is

A

Electrophoresis to identify protein

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20
Q

FISH works by

A

Fluorescent tagging of a complementary DNA sequence with exposure to fluorescent light to identify presence or absence of that sequence

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21
Q

Ordered attachment of DNA molecular fragments to a slide is

A

Microarray

Can determine number of copies, over-/under- expression, or mutations in a gene

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22
Q

The most common malformations in the US are

A

Neural tube defects

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23
Q

Most malformations are due to

A

Unknown causes (70%)

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24
Q

Genetic causes of malformations are ___%

A

20%

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25
Q

Environmental causes ___% of malformations

A

10%

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26
Q

A mutation that results in a codon change to a stop codons is a

A

Nonsense mutation

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27
Q

A mutation that results in changing from one codon to another is

A

Missense mutation

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28
Q

A splice site mutation causes

A

Retained intron in mRNA, changing translation

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29
Q

A reciprocal translocation is

A

A break in 2 chromosomes with exchanged material, normal phenotype

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30
Q

A Robertsonian translocation is

A

Fusion of long chromosome arms with lost material from short arms
Normal phenotype until subsequent generations

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31
Q

X linked recessive inheritance pattern is

A

50% transmissible from female carrier as carrier to female offspring or as disease to male offspring

Universally transmitted carrier status to female offspring from male carrier with no transmission to male offspring

Potential abnormal phenotype in female carrier

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32
Q

X linked dominant inheritance pattern is

A

2x common in females

50% transmission to both male and female offspring from affected female

Universally transmitted disease to female offspring from male carrier with no transmission to male offspring

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33
Q

Common autosomal recessive disorders:

A 
21-hydroxylase deficiency
Cong muscular dystrophy
Cystic fibrosis
IEM (most)
Sickle cell
Thalassemia
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34
Q

Hematologic autosomal dominant diseases

A

Protein C and S deficiency
Spherocytosis
Gilbert
vWD

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35
Q

Neurologic autosomal dominant diseases

A

Congenital myotonic dystrophy

Neurofibromatosis

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36
Q

Genetic autosomal dominant diseases

A 
Apert
Crouzon
Holt-Oram
Marfan
Noonan
Stickler
Treacher-Collins
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37
Q

Derm autosomal dominant diseases

A 
Aplasia cutis
Bullous ichthyosis
Ichthyosis vulgaris
Epidermolysis bullosa simplex
Keratosis pilaris
Partial albinism
Peutz-Jegher
Waardenburg
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38
Q

Renal autosomal dominant diseases

A

Adult PCKD

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39
Q

GI autosomal dominant diseases

A

Familial polyposis
Gardner
Alagille

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40
Q

Ophtho autosomal dominant diseases

A

Retinoblastoma

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41
Q

Ortho autosomal dominant diseases

A

Achondroplasia
Postaxial polydactyly
Osteogenesis imperfecta
Thanataphoric dysplasia

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42
Q

X-linked recessive metabolic disease

A

Fabry
Hunter
Menkes
Ornithine carbamyl transferase

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43
Q

X-linked recessive hematologic disease

A

G6PD
Wiskott-Aldrich
Hemophilia A and B

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44
Q

X-linked recessive neurologic disease

A

Color blindness

Duchene muscular dystrophy

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45
Q

X-linked recessive derm disease

A

Hypohidrotic ectodermal dysplasia

X-linked ichthyosis

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46
Q

X-linked recessive renal disease

A

Nephrogenic DI

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47
Q

Genomic imprinting is

A

Phenotypic variation based on maternal or paternal inheritance
Imprinting= silencing/deletion of that parent’s gene

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48
Q

Uniparental disomy is

A

Inheritance of both copies of a given gene from one parent

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49
Q

Trinicleotide repeat expansion

A

Increase phenotypic severity with each generations due to increased CTG repeat numbers

50
Q

Recurrence risk of CHD

A

3%

51
Q

Recurrence risk of cleft lip/palate

A

5-10%

52
Q

Recurrence risk of hip dysplasia

A

3%

53
Q

Recurrence risk of club foot

A

4%

54
Q

Recurrence risk of Hirschsprung

A

4%

55
Q

Recurrence risk of NTD

A

4%

56
Q

Recurrence risk of pyloric stenosis

A

3% to subsequent sibling

Maternal inheritance: 19% in son, 7% in daughter
Paternal inheritance: 5% in son, 3% in daughter

57
Q

Recurrence risk of Tri21

A

1% sibling risk in affected parents

5-10% with parental balanced translocation

58
Q

Campylodactyly, thick lips, deep eyes, cupped ears with fetal demise in non-mosaic fetuses is

A

Trisomy 8

59
Q

Cutis aplasia, midline defects, hyperconvex fingernails, clefts, and holoprosencephaly describes

A

Trisomy 13

60
Q

___% of infants trisomy 13 sure within the first year

A

90%

95% of all cases result in SAB

61
Q

VSD, clenched hands, rocker bottom feet, micrognathia, small mouth, female>male is

A

Trisomy 18

62
Q

Prognosis of trisomy 18 is

A

95% SAB

90% death in the first year

63
Q

Cri du chat is inherited _______ and presents with

A

Paternal, short arm 5th chromosome partial deletion

VSD
hypertelorism
Cat like cry
Microcephaly
Hypotonia
FTT
64
Q

Retinoblastoma, thumb hypoplasia, colobomas, microcephaly, cryptorchidism and SGA are consistent with

A

Deletion 13q

65
Q

A maternal deletion of 15q11-13 with paternal uniparental disomy causes

A

Angelman syndrome

66
Q

Presentation of Angelman syndrome is

A

Inappropriate laughter, large mouth, maxillary hypoplasia, puppet-like movement and gait, severe developmental delays with absent speech

67
Q

Velocardiofacial syndrome is also _____ which is caused by _____

A

DiGeorge, autosomal dominant/de novo

22q11.2 deletion

68
Q

DiGeorge presentation is noted by CATCH 22:

A 
Cardiac
Abnormal facies
Thymic hypoplasia
Cleft
Hypocalcemia

4th brachial arch and 3/4th pharyngeal pouch defects

69
Q

A deletion or methylation of 15q11-13 of paternal origin, maternal parental disomy results in

A

Prader-Willi

70
Q

Rubenstein -Taybi syndrome is due to

A

Microdeletion of 16p13.3

Hypoplastic maxilla

71
Q

WAGR represents

A

Wilms Tumor
Aniridia
GU abnormalities
Retardation

11p13 deletion

72
Q

______ syndrome caused by 7q11.23 deletion presents with

A

Williams

Supravalvular subaortic stenosis
Hypoplastic nails
Prominent lips
Stellate iris
Mental deficiency
73
Q

A mutation in the transmembrane domain of the fibroblast growth factor receptor 3 gene causes

A

Achondroplasia (4p16.3)

Autosomal dominant

74
Q

Crouzon and Apert syndromes are both caused by

A

Autosomal dominant inheritance of mutation in fibroblast growth factor receptor 2 gene.

75
Q

Unlike Apert syndrome, Crouzon presents with

A 
Maxillary hypoplasia (not midface)
Frontal bossing
Premature mixed craniosynostosis 
Hearing and visual deficits
Normal mental function
76
Q

Risk of ________ malignancy in Beckwith-Wiedemann is ___% and is inherited _____

A

Wilms Tumor/hepatoblastoma

5-10%

Autosomal dominant, 11p15.5

77
Q

ASD, absent or abnormal thumbs, and hypertelorism are consistent with

A

Holt -Oram syndrome

Autosomal dominant

78
Q

An abnormal fibrin gene, inherited ______, causes ______

A

Autosomal dominant

Marfan syndrome

79
Q

In contrast to Turner, Noonan is inherited ______ and has ___________ (signs).

A

Autosomal dominant

Dysplastic pulmonary valve
Cryptorchidism
Abnormal coagulation
Increased von willebrands
Cystic hygromas
80
Q

The most mild form of osteogenesis imperfecta is

A

Type 4

Normal sclera
+/- abnormal dentition

81
Q

The most severe type of osteogenesis imperfecta is ______ and causes

A

Type 2

Blue sclera
Short, broad bones
Stillbirth or early death

82
Q

Osteogenesis imperfecta associated with easy bruising is type _____ and also has

A

Type 1

8-25% fractures at birth or in first year
Deafness
Wormian bones

83
Q

Fractures present at birth is usually osteogenesis imperfecta ______ which also has:

A

Type 3

Blue sclera
Macrocephaly
Deafness
Kyphoscoliosis
Short stature
84
Q

Osteogenesis imperfecta is inherited

A

Autosomal dominant,

Type 1 collagen defect

85
Q

A type 2 collagen defect with autosomal dominant inheritance

A

Stickler syndrome

86
Q

Myopia, spondyloepiphyseal dysplasia and flat facies are consistent with

A

Stickler syndrome

87
Q

A mutation in the extracellular or intracellular tyrosine kinase domain of fibroblast growth factor receptor 3 gene is

A

Thanataphoric dysplasia

4p16.3

88
Q

TCOF gene mutation causing 1/2nd branchial arch maldevelopment causes

A

Treacher-collins

‘mandibulofacial dysostosis’

89
Q

Coloboma, mandibular hypoplasia, malar hypoplasia, hearing and visual deficits and hypoplastic zygomatic arch are

A

Treacher-Collins

90
Q

Pigmentary abnormalities that can include deafness, Hirschsprung,

A

Waardenburg

Autosomal dominant, PAX3 or microphthalmia gene

91
Q

Carpenter syndrome is ____ inheritance and has

A

Autosomal recessive

PDA, VSD
polydactyly
Dysmorphic facies
Brachycephaly

92
Q

CHD in Ellis van Creveld is

A

Single atrium/ASD

93
Q

Hyperpigmentation, radial and thumb hypoplasia, pancytopenia with increased risk of AML is

A

Fanconi pancytopenia syndrome

35% mortality

94
Q

An autosomal recessive syndrome with ASD, polydactyly, occipital encephalocele and cystic dysplastic kidneys is

A

Meckel-Gruber

95
Q

An autosomal recessive defect in cholesterol synthesis that causes increased 7-dehydrocholesterol is

A

Smith Lemli Opitz

96
Q

Features of Smith Lemli Opitz include

A

Genital hypoplasia (under virilization)
Syndactyly
Mental deficiency
High mortality

97
Q

Thrombocytopenia, absent radii and ulnar abnormalities is inherited _______ and has _____(CHD) and ____% mortality

A

Autosomal recessive

TOF
40% mortality from hemorrhage

98
Q

CDH and Dandy Walker is

A

Fryns syndrome

Autosomal recessive

99
Q

Inheritance of fragile X syndrome is

A

X-linked dominant with variable penetrance-
80% in males
30% in females

CGG repeats

100
Q

Presentation of fragile X is

A 
Long facies
Prominent forehead
Large ears
Large testes
Mental deficiency
Hyperextensibility
Autism
101
Q

Kinky hair syndrome is

A

Menkes syndrome
X-linked recessive
Abnormal copper transport, inability to act as cofactor for enzymes

102
Q

Infants who die early in infancy following twisted, lightly pigmented hair, cerebral deterioration, seizures, and wormian bones is

A

Menkes syndrome

103
Q

Presentation of mitral valve prolapse, hypogonadism, gynecomastia, long limbs, behaviorism concerns is concerning for

A

Klinefelter

47 XXY

104
Q

An infant with bicuspid aortic valve, CoA, cystic hygroma, webbed neck, gonadal dysgenesis, horseshoe kidney, short stature and broad chest likely has

A

Turner syndrome

45, XO

105
Q

Outcome of most pregnancies with a fetus with Turner’s is

A

Spontaneous abortion (98%)

106
Q

22q11 quadruplicate or triplicate results in

A

Cat eye syndrome

107
Q

Major features of cat eye syndrome are

A

TAPVR

down slanting eyes
Anal atresia
Coloboma
Mental deficiency
Renal agenesis
108
Q

Genetic cause of 6th and 7th nerve palsy is

A

Mobius sequence

109
Q

Neurological defects in Mobius sequence can include ______. _______ _______ ________ and are associated with _____ and ______ syndromes

A

Brain nuclei destruction

Brain nuclei hypoplasia/absence

Peripheral nerve involvement

Myopathy

Poland and Klippel-Feil syndromes

110
Q

An expressionless face, micrognathia, extensive cranial nerve dysfunction and limb deformities are consistent with

A

Mobius sequence

111
Q

Micrognathia secondary to mandibular hypoplasia with hearing loss is

A

Pierre-Robin sequence

112
Q

Pierre-Robin sequence can be associated with

A

Trisomy 18

Stickler syndrome

Treacher-collins

FAS

113
Q

CHARGE association is

A 
Coloboma
Heart disease (TOF, DORV)
Atresia of choana
Restricted growth
Genital hypoplasia
Ear anomalies

Mental deficiency common (94%)

114
Q

Micromelia, synophrys, thin down turned lip, long curly eyelashes, hypertonicity, microbrachycephaly, hirsutism, VSD suggests

A

Cornelius de Lange

115
Q

Oculo-auriculo-vertebral or facio-auriculo-vertebral spectrum is also known as ______ and inherited

A

Goldenhar syndrome- 1st/2nd branch abnormalities

Sporadic

116
Q

Goldenhar syndrome presents with

A 
Malformed ears, pits or tags
Hemivertebrae/hypoplasia
Facial hypoplasia
VSD
Unilateral pattern
117
Q

A sprengel deformity is part of

A

Klippel-Feil syndrome

  • abnormal elevation and medial rotation of the scapula
118
Q

A webbed neck with a short neck, low hairline, fused cervical vertebrae and deafness is

A

Klippel-Feil

119
Q

Asymmetric limb hypertrophy with vascular lesions is

A

Klippel-Trenaunay-Weber

120
Q

Proximal subclavian artery disruption causes

A

Poland sequence:
Poorly developed ipsilateral distal limb/pectoral region
Syndactyly

Male»
75% RIGHT

121
Q

Small triangular facies, asymmetric skeleton, and a small incurved 5th finger is

A

Russell-Silver syndrome

Maternal uniparental disomy

122
Q

VACTERL is

A 
>3 of:
Vertebral anomalies
Anal atresia
Cardiac (VSD)
TEF
Renal anomaly
Limb dysplasia

Increased in IDM

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