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Y2 Pediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

different versions (a variant of the similar DNA sequence) of a gene that occupy the same locus

A

alleles

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2
Q

individuals with identical alleles for a given locus

A

homozygous

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3
Q

individual with different alleles for a particular locus

A

heterozygous

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4
Q

the physical manifestation of the gene,

depends on a person’s gene, gene-gene, and gene-environment interactions

A

phenotype

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5
Q

set of genes of an organism

A

genotype

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6
Q

unit of inheritance

A

gene

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7
Q

carrier of genes

A

chromosome

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8
Q

specific location of a gene (DNA sequence) on a chromosome

A

locus

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9
Q

a gene in a pair specifies the phenotype instead of the other gene

A

dominant trait

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10
Q

traits or disease manifest only when both copies of the gene are the same

A

recessive trait

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11
Q

dictated by the alleles

A

trait

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12
Q

Normal karyotype for females

A

46,XX

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13
Q

Normal karyotype for males

A

46,XY

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14
Q

mga under ng

Autosomal Dominant Inheritance

A

Familial Hypercholesterolemia
Marfan Syndrome
Ehlers-Danlos Syndrome
Neurofibromatosis Type 1 
(Von Recklinghausen Disease)

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15
Q

mga under ng

Autosomal Recessive Trait

A

Classic Phenylketonuria
Maple Syrup Urine (MSU) Disease
Galactosemia
Congenital Adrenal Hyperplasia

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16
Q

mga under ng

X-LINKED DOMINANT INHERITANCE

A

Focal Dermal Hypoplasia (Goltz syndrome)

Rett syndrome

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17
Q

mga under ng

X-LINKED RECESSIVE INHERITANCE

A

G6PD Deficiency
Hemophilia
Duchenne Muscular Dystrophy (DMD)

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18
Q

Connective tissue disease 1:5000
Mutation in fibrillin-1 (FBN1) gene on chromosome 15 q
(tall stature, unusually long slender limbs, scoliosis, chest wall deformities, arachnodactyly, hyperextensibility of the joints)

A

Marfan syndrome

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19
Q

INCREASED levels of cholesterol

Management: Statins (HMG CoA reductase inhibitor)

A

Familial Hypercholesterolemia

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20
Q

Marfan syndrome gene mutation

A

Mutation in fibrillin-1 (FBN1) gene on chromosome 15 q

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21
Q

Defect in collagen structure or synthesis ➔ abnormal production and secretion of collagen

A

Ehlers-Danlos Syndrome

22
Q

Neurofibromatosis Type 1
 (Von Recklinghausen Disease)

defect in

A

tumor suppressor gene NF-1 on chromosome 17

23
Q

multiple neurofibromas, café-au-lait spots, Lisch nodules (benign growth in the iris), optic pathway gliomas, learning disabilities, short stature, seizures, hypertension, malignancies

A

Neurofibromatosis Type 1
 (Von Recklinghausen Disease)

24
Q

must use soya formula

A

Galactosemia

25
Q

6 diseses covered by screening tests

A 
G6PD
Congenital hypothyroidism
Classic Phenylketonuria
Maple Syrup Urine (MSU) Disease
Galactosemia
Congenital Adrenal Hyperplasia

last 4 is Autosomal Recessive Trait

26
Q

Deficiency of liver enzyme phenylalanine hydroxylase

A

Classic Phenylketonuria

27
Q

diet for Classic Phenylketonuria and Maple Syrup Urine (MSU) Disease

A

low protein

28
Q

Accumulation of branched chain amino acids leucine, isoleucine and valine

A

Maple Syrup Urine (MSU) Disease

29
Q

Deficiency of any of the enzymes required for the synthesis of aldosterone and cortisol: 21hydroxylase, 11βhydroxylase, 3βhydroxysteroid and 17αhydroxylase, congenital lipoid hyperplasia, P450 oxidoreductase deficiency

A

Congenital Adrenal Hyperplasia

30
Q

avoidance of fava beans

A

G6PD

31
Q

Trisomy 21

A

Down’s syndrome

32
Q

Trisomy 13

A

Patau Syndrome

33
Q

Trisomy 18

A

Edward Syndrome

34
Q

XXY

A

Klinefelter Syndrome

35
Q

genetic testing for DNA

A

Southern blot

36
Q

genetic testing for RNA

A

Northern blot

37
Q

genetic testing for dystrophy

A

Western blot

38
Q

rate-limiting enzyme in hexose monophosphate shunt

A

G6PD

39
Q

Tympanitic abdomen

A

Colic

40
Q

lack of clotting factor VIII

A

Hemophilia A

41
Q

lack of clotting factor IX

A

Hemophilia B

42
Q

Hallmark: hemarthrosis (ankles); prolonged bleeding episodes, easy bruisability, IM hematoma

A

Hemophilia

43
Q

“runs in the family”

A

multifactorial

44
Q

most common inborn error of metabolism

A

MSU

45
Q

a condition with the deficiency of an enzyme that is required in the synthesis of cortisol and aldosterone: females would manifest with ambiguous genitalia, salt-wasting type adrenal crisis

A

CAH

46
Q

puppet-like gait

A

Angelman syndrome

47
Q

type of stem cell that differentiate into embryonic and extraembryonic

A

totipotent

48
Q

bone marrow stem cell is example of

A

hematopoietic

49
Q

most common chromosomal autosomal abnormality

A

Trisomy 21/ Down’s syndrome

50
Q

examination of abdomen

A

inspection - palpation - percussion - auscultation

Y2 Pediatrics (9 decks)

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