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Biochemistry > Genetics > Flashcards

Genetics Flashcards

1
Q

Mitochondrial syndromes

A

1) Leber hereditary optic neuropathy - bilateral blindness
2) Myoclonic epilepsy with ragged red fibers (MERF)
3) Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS)

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2
Q

Selective inactivation of paternal or maternal alleles

A

Genetic Imprinting

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3
Q

What syndromes does genetic imprinting influence

A

1) Prader-Wili syndrome (Paternal allele not expressed)

2) Angelman (Maternal allele not expressed)

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4
Q

Increase in the severity of genetic disorders in subsequent generations

A

Anticipation (observed in Huntington disease and Fragile X syndrome)

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5
Q

The variable expression of two variations of genetic mtDNA

A

Heteroplasmy

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6
Q

What is a scenario where heteroplasmy takes place

A

Mitochondrial DNA disorders

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7
Q

Disease associated with Cystic hygroma, primary amenorrhea, short stature, underdeveloped ovaries, failure of female sex traits, shield chest, coarctation

A

Turners syndrome (XO)

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8
Q

Round face, cat like cry, and microcephaly

A

Cri du chat (5p-)

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9
Q

XY chromosomes that appears phenotypically female. Blind-ended vaginal pouch without a uterus

A

Androgen insensitivity syndrome (testicular feminization syndrome)

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10
Q

Transmission of an abnormal gene from a parent to a child does not always cause a disease. This is known as?

A

Penetrance

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11
Q

One gene mutation leads to multiple phenotypic abnormalities

A

Pleiotropy

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12
Q

Presence of two populations of cells with different genotypes in one pt.

A

Mosaicism

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13
Q

Partial deletion of chromosome 5 causes?

A

Cri-du-chat

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14
Q

Child shows insatiable hunger and thirst and emotional lability; hypogonadism and hypotonia

A

1) Prader-Willi syndrome
2) deletion of chromosome 15
3) Parental allele is not expressed (Paternal = Prader)

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15
Q

Both alleles contribute to the phenotype of the heterozygote

A

Codominance

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16
Q

Offspring receives 2 copies of a chromosome from 1 parent and no copeis from the other

A

Uniparental disomy

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17
Q

What is the Hardy-Weinberg equation to explain population allele genetics?

A

p2 + 2pq + q2 = 1

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18
Q

Mental retardation, seizures, ataxia, and inappropriate laughter

A

Angleman syndrome

1) Loss of Maternal allele

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19
Q

Name the mode of inheritance and the disease characterized by dwarfism with normal trunk size, but shortened limbs?

A

1) Autosomal dominant (mutation in FGFR3)

2) Achondroplasia

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20
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by bilateral cystic kidneys; pt. increased risk for berry aneurysm, mitral valve prolapse, and hepatic cysts

A

1) Autosomal dominant
2) PKD1 (chromosome 16)
3) Autosomal dominant polycystic kidney disease

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21
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by thousands of polyps in the colon and an increased risk for colorectal cancer

A

1) Autosomal dominant
2) APC gene (chromsome 5)
3) Familial adenomatous polyposis

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22
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by spheroid rbcs due to a defect in spectrin; cured by splenectomy

A

1) Autosomal dominant

2) Hereditary spherocytosis

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23
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by depression, progressive dementia, choreiform movements and decreased GABA and ACh in the brain

A

1) Autosomal dominant
2) Chromsome 4 (HUNT 4 food)
3) Huntington’s disease

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24
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by Cafe-Au-Lait spots, neurofibromas, Lisch nodules, and optic pathway glioma

A

1) Autosomal dominant
2) Chromosome 17
3) Neurofibromatosis type 1

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25
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by bilateral acoustic neuroma (schwannoma), meningioma

A

1) Autsomal dominant
2) Chromosome 22 (defect in merlin protein)
3) Neurofibromatosis type 2

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26
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by hypopigmented ash-leaf spots, brain hamartomas, cardiac rhabdomyoma, mental retardation, seizures, renal angiomyolipoma

A

1) Autosomal dominant

2) Tuberous sclerosis

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27
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by hemangioma, bilateral renal clear cell carcinoma, pheochromocytoma

A

1) Autosomal dominant
2) Chromosome 3 (VHL gene)
3) Von Hippel Lindau disease

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28
Q

Name the mode of inheritance, the gene/chromosome, and the disease characterized by sinusitis at a young age, recurrent pneumonia, pseudomonas infection, fat soluble deficiencies, infertility

A

1) Autosomal recessive

2) CFTR gene (chromosome 7)

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29
Q

What is the cause of Cystic fibrosis?

A

1) Defect in post translational folding of CFTR channel
2) Results in Decreased secretion of Cl in mucous membranes
3) Results in increased secretion of Cl in skin

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30
Q

What is the treatment for Cystic fibrosis?

A

N-acetylcysteine - loosens up mucous plugs

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31
Q

What are the X-linked disorders?

A

Think: Be Wise, Fool’s GOLD Heeds Silly HOpe

1) Bruttons agammaglobulinemia
2) Wiskot-Aldrich syndrome
3) Fabry disease
4) G6PD defiency
5) Ocular albinism
6) Lesch-Nyhan syndrome
7) Duchene & Beckers muscular dystrophy
8) Hunters Syndrome
9) Hemophilia A and B
10) Ornithine transcarbamoylase defiency

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32
Q

What would be a positive Down syndrome finding for a pregnancy quad screen?

A

1) Decreased alpha fetoprotein
2) Increased beta-hCG
3) Decreased estriol
4) Increased inhibin A

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33
Q

Trisomy 18

A

Edwards syndrome (Think E - Election age 18)

34
Q 
Mental retardation
Rocker-bottom feet
Micrognathia (small jaw)
Low set ears
Death within 1 year of birth
A

Edwards syndrome (trisomy 18)

35
Q

Trisomy 13

A

Patau’s syndrome ( Think: P = Puberty = age 13)

36
Q 
Mental retardation 
Rocker-bottom feet
Microphthalmia (small eyes)
Cleft Lip Palate
Holoprosencephaly
Polydactylyl
A

Patau’s syndrome (trisomy 13)

37
Q

What are positive findings of Patau’s syndrome (trisomy 13)

A

Findings in first trimester

1) Decreased beta-hCG
2) Decreased PAPP-A
3) Increased nuchal translcency

38
Q

Congenital microdeletion of short arm of chromsome 5; microcephaly, retardation, high pitched crying, epicanthal folds; ventricular septal defect

A

Cri-du-chat syndrome

39
Q

Congenital microdeletion of long arm of chromosome 7; elfin facies, intellectual disability, hypercalcemia, well developed verbal skills, extreme friendliness with strangers

A

Williams sydnrome (Think: Will is willing to make friends with anyone)

40
Q

Deletion of chromsome 22Q11 results in?

A

DiGeorge syndrome

1) Absent thymus
2) Absent parathyroid
3) Cardiac defect

41
Q

Appearance of DNA fragments in multiples of 180 pairs

A

DNA laddering

42
Q

What does DNA laddering indicate?

A

Apoptosis

43
Q

Process by which a cell loses its ability to regulate its growth

A

Transformation

44
Q

Phenomenon whereby cell division halts in G1 in response to contact on all sides by other cells

A

Contact inhibition

45
Q

Parents come in for genetic counseling. Both children have osteogenesisi imperfecta, however no one in the family has this disease besides them. What is the cause?

A

1) Germline mosaicism

2) Presence of two or more genetically different cell lines within the body

46
Q

Function of DNA polymerase III

A

1) 5’ to 3’ synthesis

2) Proofreads 3’ to 5’

47
Q

What is the only DNA polymerase that has proofreading ability to do 5’ to 3’ and 3’ to 5’

A

DNA polymerase I

48
Q

Function of DNA polymerase I

A

1) Removes primase from lagging strand and replaces

2) This is why it is so important to have both directions of exonuclease proofreading

49
Q

Enzyme that adds DNA to 3’ end of chromsomes to avoid loss of genetic material

A

Telomerase

50
Q

Why are DNA and RNA synthesized 5’ to 3’

A

Triphosphate is found on 5’ end

51
Q

How are the amino acids in protein synthesis read?

A

N terminus to C terminus

52
Q

What is the key component to splicing pre-mRNA

A

snRNP

53
Q

What is required for aminoacyl-tRNA synthase to bind amino acid to tRNA?

A

1) ATP

54
Q

What enzyme matches amino acid to tRNA?

A

Aminoacyl-tRNA synthase

55
Q

What is required for initiation of protein synthesis?

A

think: GTP is Gripping and Going places
1) GTP hydrolysis and Initiation factors
2) GTP causes tRNA to form with 40s subunit and to translocate

56
Q

What is it called when a pt. inherits or develops a mutation in tumor suppressor gene and then the complementary unaltered gene is mutated/deleted

A

Loss of heterozygosity

57
Q

What is an example of loss of heterozygosity?

A

1) Loss of APC gene in Famalial Adenomatous Polyposis

2) Retinoblastoma

58
Q

Where did a non disjunction occur in a trisomy consisting of one allele from father and two identical alleles from mother? What if the alleles were not identical?

A

1) Anaphase II

2) Anaphase I

59
Q

Pt. presents with flank pain, hematuria, hypertension, progressive renal failure

A

Polycystic kidney disease

60
Q

Elevated LDL (cholesterol = 700+) due to defective or absent LDL receptor

A

Familial hypercholesterolemia

61
Q

What is the cholesterol level of a person with a heterozygote in gene involved with familial hypercholesterolemia?

A

300 mg/dL

62
Q

What are complications of Famalial hypercholestrolemia?

A

1) Early severe atherosclerotic disease
2) Tendon xanthomas (classically in tendon)
3) MI may develop before age of 20

63
Q

Pt. presents with telangiectasia, recurrent epitaxis, skin discolorations, and arteriovenous malformation. What is the cause? What is it?

A

1) Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
2) Autosomal dominant mutation

64
Q

Defective or absent LDL receptor

A

Familial chypercholestrolemia

65
Q

What is the autosomal inheritance of the Multiple endocrine neoplasias?

A

Autosomal dominant

1) MEN 1 (3 p’s: pituitary, parathyroid, pancreas)
2) MEN2A (thyroid, parathyroid and Pheochromocytoma)
3) MEN2B (Thyroid and Pheochromocytoma with neural skin lesions)

66
Q

X linked disease that presents with accelerated muscle breakdown; Weakness in pelvic girdle; pseudohypertrophy of the calf. Elevated CPK. Appears before age of 5. Disease? Cause?

A

1) Duchene’s muscular dystrophy

2) Deletion of dystrophin gene (longest known human gene)

67
Q

What is the purpose of dystrophin?

A

Anchors muscle fibers

68
Q

Macro-orchidism, long face with a large face, large everted ears, autism, mitral valve prolapse

A

Think: Yoda (big ears, jaw, and kahonas) flies an X-wing

1) Fragile X syndrome (x linked defect)
2) Trinucleotid repeat disorder

69
Q

What are the diseases caused by Trinucleotide Repeat expansion?

A

Think: X-Girlfriend’s First Aid Helped Ace MY Test

1) fragile X syndrome (CGG)
2) Friedreich’s ataxia (GAA)
3) Huntington (CAG)
4) Myotonic dystrophy (CTG)

70
Q

What are Down syndrome pt. more at risk for?

A

1) Alzheimer (APP found on chromosome 21)
2) Hirschsprung and Duodenal atresia
3) Congenital heart disease (ASD)

71
Q

Trisomy 21? Trisomy 18? Trisomy 13?

A

1) Down syndrome (Drinking = 21)
2) Edward syndrome (Election = 18)
3) Patau’s syndrome (Puberty = 13)

72
Q

Pt with tessticular atrophy, eunuchoid (lacking sexual differentation) body shape; gynecomastia, long extremities, female hair distribution; may have developmental delay

A

Klinefelter’s syndrome [male] (XXY)

73
Q

What occurs in Klinefelter’s syndrome

A

1) Dysgensis of seminiferous tubule leading to decreased inhibin –> increased FSH
2) Abnormal leydig cell function leading to decreased testosterone –> increased LH
To sum it up: Decreased hormones from the sertoli and leydig cells of a male

74
Q

Pt with short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, coarctation of the aorta, horseshoe kidney

A

Turner syndrome [Female] (XO)

75
Q

What congenital defects are observed in Turner’s syndrome?

A

1) Horseshoe kidney
2) Coarctation of the aorta
3) Bicuspid aortic valve
4) lymphatic defects (webbing of neck)

76
Q

What is the estrogen level in Klinefelter syndrome (XXY) and in Turner syndrome (XO)

A

1) Estrogen is high in Klinefelter’s (decreased Inhibin and increased LH)
2) Estrogen is low in Turner’s syndrome (absence of ovaries)

77
Q

What is the disorder that causes the following abnormal testosterone/LH levels:

1) Increased Testosterone: Increased LH
2) Increased Testosterone: decreased LH
3) Decreased testosterone: Increased LH
4) Decreased testosterone: decreased LH

A

1) Androgen insensitivity
2) Testosterone producing tumor
3) Primary hypogonadism
4) Hypogonadotropic hypogonadism

78
Q

Causes of feamle pseudohermaphrodite (XX)

A

Ovaries are present, but external genitalia are virilized

1) Congenital adrenal hyperplasia
2) Exogenous androgen use during pregnancy

79
Q

Pt. who appears as a normal female; complaining of never having menses; female external genitalia are normal, uterus and fallopian tubes are absent

A

Androgen insensitivity (XY)

80
Q

Defective migration of GnRH cells and formation of olfactory bulb; leads to decreased GnRH in hypothalamus

A

Kallmann syndrome

Biochemistry (5 decks)

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