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kaplan biochem > genetics > Flashcards

genetics Flashcards

1
Q

list X linked dominant dz

A

fragile X, Rett syndrome, hypophosphatemic ricketts, charcot marie tooth syndrome

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2
Q

List X linked recessive dz

A

glucose-6-phosphate dehydrogenase deficiency, duchenne muscular dystrophy, Lesch-Nyhan syndrome, hemophilia A and B

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3
Q

environmental factors in xeroderma pigmentosum

A

degree of exposure to UV light

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4
Q

allelic heterogeneity

A

nonsense vs missense mutation in factor VIII gene and Beta thalassemia- different mutations in same locus produce same phenotype

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5
Q

locus heterogeneity

A

mutations at different loci produce similar phenotype- ie. albinism

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6
Q

disease with incomplete penetrance

A

retinoblastoma and BRCA1 mutations- not everybody with mutated genotype will show phenotype

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7
Q

disease with variable expression

A

hemochromatosis and neurofibromatosis type 1- varying degrees of severity

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8
Q

dz with pleiotropy

A

marfan syndrome, cystic fibrosis, PKU- one gene contributes to multiple phenotypic effects

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9
Q

dz with locus heterogeneity

A

osteogenesis imperfecta

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10
Q

prader willi

A

loss of paternal allele from 15q at an imprinted locus, or inheriting both 15q from mom (25% uniparental disomy). Hyperphagia and obesity, neonatal hypotonia, hypogonadism

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11
Q

Angelman syndrome

A

loss of maternal allele from 15q at an imprinted locus, or inheriting both 15q from dad (5% uniparental disomy). Seizures, ataxia, happy disposition, inappropriate laughter

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12
Q

What kind of translocation is philadelphia chromosome

A

reciprocal

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13
Q

Cri Du Chat

A

microdeletion in p arm of chrom 5

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14
Q

hypophosphatemic rickets inheritance pattern and presentation

A

X-linked dominant disorder resutling in increased phosphate wasting at proximal tubule and results in rickets like presentation. Not responsive to vit D

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15
Q

Mitochondrial myopathies inheritance and presentation

A

mitochondrial mutation- ragged red fibers on muscle biopsy, myopathy, lactic acidosis and CNS diseases. Secondary to failure in oxidative phosphorylation

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16
Q

Achondroplasia

A

Autosomal dominant. Missense mutation in fibroblast growth factor receptor 3 (FGFR3) on chromosome
4 leads to inhibition of cartilage synthesis at
epiphysial growth plate. Dwarfism: long bones are short and thick, cranial and vertebral bones are spared. Autosomal dominant. Missense mutation in fibroblast growth factor receptor 3 (FGFR3) on chromosome
4 leads to inhibition of cartilage synthesis at
epiphysial growth plate. Dwarfism: long bones are short and thick, cranial and vertebral bones are spared. Autosomal dominant. Missense mutation in fibroblast growth factor receptor 3 (FGFR3) on chromosome
4 leads to inhibition of cartilage synthesis at
epiphysial growth plate. Dwarfism: long bones are short and thick, cranial and vertebral bones are spared. Autosomal dominant. Missense mutation in fibroblast growth factor receptor 3 (FGFR3) on chromosome
4 leads to inhibition of cartilage synthesis at
epiphysial growth plate. Dwarfism: long bones are short and thick, cranial and vertebral bones are spared.

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17
Q

Polycystic kidney disease

A 
Autosomal dominant.  Mutation of the PKD-1 gene on
chromosome 16 (16 letters in PCK).  Enlarged kidneys with tubular cysts bilaterally.  Renal insufficiency, hematuria, HTN in middle age.  Extra renal- liver cysts, berry aneurisms, mitral valve prolapse, colonic diverticulaAutosomal dominant.  Mutation of the PKD-1 gene on
chromosome 16 (16 letters in PCK).  Enlarged kidneys with tubular cysts bilaterally.  Renal insufficiency, hematuria, HTN in middle age.  Extra renal- liver cysts, berry aneurisms, mitral valve prolapse, colonic diverticulaAutosomal dominant.  Mutation of the PKD-1 gene on
chromosome 16 (16 letters in PCK).  Enlarged kidneys with tubular cysts bilaterally.  Renal insufficiency, hematuria, HTN in middle age.  Extra renal- liver cysts, berry aneurisms, mitral valve prolapse, colonic diverticula
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18
Q

Cystic fibrosis

A

AR. Mutation of CFTR chloride channel on chrom 7. Most common mutation is delta508. Abnormal protein folding. Diagnosis: sweat test. Treatment: N-acetylcysteine (cleaves mucus glycoproteins), infections

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19
Q

List the X linked recessive conditions

A

Be Wise, Fools GOLD Heeds Silly Hope: Bruton agammaglobulinemia, Wiskott-Aldrich syndrome, Fabry disease, G6PD deficiency, Ocular albinism, Lesch-Nyhan, Duchenne MD, Hunter syndrome, Hemophilia A and B, Ornithine transcarbamylase deficiency.

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20
Q

Duchennes muscular dystrophy

A

X-linked recessive. Frameshift mutation of dystrophin gene- ineffective protein. Onset by 5 yrs. Calf pseudohypertrophy, proximal muscle weakness, Gowers maneuver, dilated cardiac myopathy, pulmonary infections, elevated CPK. Muscle biopsy shows necrosis, degeneration and regeneratio of fibers, fatty infiltration, decreased dystrophiin. Diagnosis by PCR

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21
Q

Becker muscular dystrophy

A

X lined recessive. Point mutation in dystrophin gene. Less severe than Duchenne.

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22
Q

Familial adenomatous polyposis

A

Autosomal dominant. Mutation of APC gene on chrom 5 (5 letters in polyp). Thousands of colonic polyps after puberty, adenocarcinoma by age 40. Increased risk for adenocarcinoma of duodenum, ampulla of vater

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23
Q

glycogen storage diseases

A

Autosomal recessive

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24
Q

Familial hypercholesterolemia

A

aka type II hyperlipidemia. Autosomal dominant. Mutation of LDL receptor on chrom 19. Elevated serum LDL, tendon xanthomas (lipid laden macrophages in skin), xanthelasmas around eyes, premature atherosclerosis, early MI

25
Q

PKU

A

autosomal recessive

26
Q

Sickle cell anemia

A

autosomal recessive

27
Q

Fabrys disease

A

X linked recessive

28
Q

hereditary hemorrhagic telangiectasia

A

Autosomal dominant. Telangiectasias of skin/mucus membranes of lips, tongue, fingertips. Recurrent epistaxis, arterio-venous malformation.

29
Q

Hereditary spherocytosis

A

autosomal dominant. Defect in ankryin and spectrin (components of RBC cell membranes). RBCs contract to sphere shape and are removed by macrophages in spleen. Splenomegaly, hemolytic anemia, jaundice, pigmented gallstones. Treatment is splenectomy

30
Q

Huntingtons disease

A

AD. Expansion of CAG trinucleotide repeat on chrom 4 (huntingtin protein). Degeneration of GABAergic neurons in caudate nucleus removes inhibitory input on extrapyramidal circuit- chorea. Manifests btw 20-40yrs. Personality changes, dementia

31
Q

Lesch Nyhan syndrome

A

X linked recessive

32
Q

Fragile X syndrome

A

X linked dominant. Trinucleotide repeat mutation in FMR-1 gene. CGG repeats. Autism/ADHD, elongated face with large jaw, large everted ears, maroorchidism (eXtra large testes, jaw, ears). Mitral valve prolapse. Diagnosed with PCR

33
Q

Friedreichs ataxia

A

Autosomal recessive. GAA sequence expansion on chrom 9. Mitochondrial iron builds up causing free radical damage, degeneration of nerve tissue in spinal cord, gait ataxia (hammer toes), dysarthria, hand clumsiness, loss of sense of position, impaired vibratory sensation, areflexia in all limbs

34
Q

Marfan syndrome

A

, hypermobile jointsAD. Mutation of fibrillin gene on chrom 15. pleotropy. Tall, thin body, pectus excavatum. Bilateral subluxation of lenses, cystic degeneration of media of elastic arteries resulting in dissecting aneurysms. Aortic and mitral valve insufficiency

35
Q

MEN I

A

AD. Mutation of MEN I tumor suppressor gene. Hyperplasia and tumors of Parathyroid, Pituitary (prolactinomas), pancreas (insulinoma, zollinger ellison)

36
Q

MEN IIA

A

AD. Mutation of RET proto-oncogene. Hyperplasia and tumors of parathyroid, pheochromocytoma, meduallary carcinoma of thyroid.

37
Q

MEN IIB (III)

A

AD. Mutation of RET proto-oncogene. Pheochromocytoma, medullary carcinoma of thyroid, muco-cutaneous neuromas, marfanoid habitus

38
Q

Myotonic dystrophy

A

Autosomal dominant. CTG repeat expansion. Muscle loss, myotonia, cardiac conduction defects, testicular atrophy, frontal baldness, cataracts

39
Q

Neurofibromatosis type I

A

AD. Mutation of tumor suppressor gene NF-1 on
chromosome 17. Neurofibromas, café-au-lait spots, Lisch nodules, risk for meningiomas and pheochromocytomas.AD. Mutation of tumor suppressor gene NF-1 on
chromosome 17. Neurofibromas, café-au-lait spots, Lisch nodules, risk for meningiomas and pheochromocytomas.

40
Q

Neurofibromatosis type II

A

AD. Mutation of tumor suppressor gene NF-2 on
chromosome 22. bilateral acoustic neuromas (schwannomas), neurofibromas, café-au-lait spots, risk for meningiomas and ependymomasAD. Mutation of tumor suppressor gene NF-2 on
chromosome 22. bilateral acoustic neuromas (schwannomas), neurofibromas, café-au-lait spots, risk for meningiomas and ependymomas

41
Q

Causes of Down syndrome

A

95% are meiotic nondisjunctions of homologous chromosomes, 4% are robertsonian translocation, 1% are mosaicism from mitotic nondisjunction

42
Q

Tuberous sclerosis

A

AD. Incomplete penetrance. Multiple cortical, retinal, and pulmonary hamartomas. Ash leaf spots, renal cysts, renal angiomyolipomas, cortical tubers, increased astrocytomas, seizures, mental retardation

43
Q

von Hippel-Lindau disease

A

AD. Mutaiton of tumor suppressor gene VHL on chrom 3 (VHL is 3 words). Normal gene product tags proteins with ubiquitin for degradation. Elevated HIV leads to activation of angiogenic growth factors. Hemangioblastomas. Von Hippel tumor in retina. Lindau tumors in cerebellum, brainstem, spinal cord. cysts of liver, pancreas, kidneys. bilateral renal cell carcinomas

44
Q

Down syndrome pre natal screening

A

decreased alpha-fetoprotein, increased B-HCG, decreased unconjugated estriol, increased inhibin A

45
Q

Edwards syndrome

A

trisomy 18. Mental retardation, low set ears, micrognathia, overlapping flexed fingers, rocker bottom feet, congenital heart defects, renal malformations. Death within first year

46
Q

edwards syndrome pre natal screening

A

Decreased alpha-fetoprotein, decreased beta-hCG, decreased estriol, normal inhibin A

47
Q

Patau syndrome

A

Trisomy 13. Mental retardation, cleft lip/palate, cardiac defects, renal abnormalities, microcephaly/holoprosencephaly, polydactyly. Death within first year

48
Q

Pataue syndrome pre-natal screening

A

normal alpha fetoprotein, beta-HCG, estriol and inhibin A

49
Q

Cri Du Chat

A

Deletion of short arm of chrom 5. High pitch cat like cry. Mental retardation. Congenital heart disease (VSD), microcephaly

50
Q

Williams syndrome

A

Microdeletion of long arm of chrom 7 including elastin gene. Mental retardation, elfin face, hypercalcemia (increased sensitivity to Vit D), cheerful demeanor and ease with strangers, developmental delay but strong language skills. Cardiovascular problems

51
Q

DiGeorge syndrome

A

Microdeletion at 22q11. CATCH-22: cardiac defects, abnormal facies, thymic aplasia, cleft palate, hypocalcemia/hypoparathyroidism, 22 chrom.

52
Q

List the trinucleotide repeat expansion diseases

A

Huntingtons, myotonic dystrophy, Friedreich ataxia, Fragile X

53
Q

albinism

A

AR, mutation in tyrosinase, pale color urine.

54
Q

PKU

A

AR, mutation in phenylalanine hydroxylase, musty odor of urine

55
Q

Tay Sachs

A

AR, mutation in hexosaminidase A, Cherry red spot in macula

56
Q

G6PD deficiency

A

XR, mutation in G6PD resulting in Heinz bodies.

57
Q

Hemophilia A

A

XR, mutation in Factor VIII, increased coag time

58
Q

Hemophilia B

A

XR, mutation in Factor IX, increased coag time

59
Q

Lesch Nyhan syndrome

A

XR, mutation in HGPRT, severe hyperuricemia

kaplan biochem (2 decks)

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