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Biochemistry > Genetics > Flashcards

Genetics Flashcards

1
Q

Genetic Anticipation

A

Condition that presents earlier and more severe in successive generations

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2
Q

Genetic Heterogeneity

A

Different Genetic mutations causing same disease

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3
Q

Germline Mosaicism

A

Unaffected parents having Gametes with mutated allele that is passed to offspring

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4
Q

Maternal Imprinting

A

Selective silencing of genes inherited from mother. The expression of genes are determined by information from fathers side

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5
Q

Example of Genetic Anticipation

A

Myotonic Dystrophy

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6
Q

Example of Genetic Hetrogeneity

A

Tuberous sclerosis

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7
Q

Example of Maternal Imprinting

A

Prader-Willi Syndrome

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8
Q

Stop Codons

A

UAA
UAG
UGA

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9
Q

G6PD enzyme function

A

Converts glucose 6 phosphate to 6-phosphogluconate

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10
Q

Down Syndrome GI Complications

A

Duodenal Atresia and Hirschsprung Disease

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11
Q

Down Syndrome Malignancy

A

ALL

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12
Q

Almond Shaped Eyes, Narrow Forehead, Short Stature, Obese and hypogonadism

A

Prader-Willi Syndrome

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13
Q

Long Narrow Face, Prominent Forehead and chin, large everted ears

A

Fragile X Syndrome

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14
Q

Flat Occiput with bilateral epicanthal folds, single palmar crease

A

Downs Syndrome

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15
Q

Prominent occiput, Low set ears and small jaw

A

Edwards Syndrome

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16
Q

Polydactyly, Rocker bottom feet, Cleft Lip and Cleft palate

A

Patau Syndrome

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17
Q

Fragile X syndrome Trinucleotide Repeat

A

CGG

18
Q

The 5 As of Down syndrome:

A
  • Advanced maternal age
  • Atresia (duodenal)
  • Atrioventricular septal defect
  • Alzheimer disease (early onset)
  • ALL
19
Q

Key Features of Kartagener’s Syndrome

A

Infertility
Recurrent Sinus Infections
Chronic Cough

20
Q

Pleiotropy

A

when one gene contributes to multiple seemingly unrelated phenotypic effects. This phenomenon explains how a single gene mutation can cause a disease affecting multiple organ systems

21
Q

Variable Expressivity

A

Two individuals can have exactly the same mutation on the same chromosome (i.e., same genotype), but show a different degree of disease manifestation and severity

22
Q

Anticipation

A

Pattern of inheritance in which the succeeding generation develops a disease with greater severity or at a younger age than the ones before

23
Q

MECP2 gene mutation

A

Rett Syndrome

24
Q

Almond Shaped eyes, Obesity and Narrow Bridge of Nose

A

Prader-Willi Syndrome

25
Q

Frontal Balding and Cataracts

A

Myotonic Dystrophy

26
Q

Trinucleotide repeat of CTG

A

Myotonic Dystrophy

27
Q

Inheritance pattern of Lesch-Nyhan syndrome

A

X-linked recessive

28
Q

Inheritance pattern of severe combined immunodeficiency (SCID)

A

Autosomal Recessive

29
Q

mutation of the tumor suppressor p53 gene located on chromosome 17

A

Li-Fraumeni syndrome

30
Q

Function of Retinoblastoma gene

A

Prevents cell-cycle progression past the G1/S checkpoint

31
Q

Lens subluxation downward and inward

A

Homocystinuria

32
Q

Lens subluxation upward and outward

A

Marfan syndrome

33
Q

maple syrup urine disease caused by

A

α-keto acid dehydrogenase deficiency

34
Q

t(14;18) translocation

A

Follicular B-cell lymphoma

35
Q

Function of α-keto acid dehydrogenase

A

Breaks down isoleucine, leucine, and valine (Branched amino acid)

36
Q

What is the role of the mRNA start codon AUG in prokaryotes in the innate immune response?

A

Codes for N-formylmethionine (fMet) → stimulate neutrophil chemotaxis

37
Q

Which ophthalmologic finding may be present in a patient with Down syndrome

A

Brushfield spots (whitish spots at the margin of the iris)

38
Q

A mutations affects male and female offspring with equal frequency, but disease often presents
with varying severity even in those with the same mutation

A

Heteroplasmy

39
Q

A defect in fibrillin-1 is associated with

A

Marfan syndrome.

40
Q

Intestinal rupture
Thin skin
Bruising and varicosities
Suggestive of

A

Vascular Ehlers-Danlos syndrome

Biochemistry (7 decks)

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