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Chromosomes/Genetics Flashcards

1
Q

Retinoblastoma

A

13

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2
Q

Osteogenesis Imperfecta

A

AD

Decreased production of type 1 collagen. Brittle bone dz, blue sclerae

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3
Q

Prader-Willi

A

Paternal deletion on cs 15, maternal imprinting (maternal gene silenced via methylation)

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4
Q

Angelman

A

Maternal gene is deleted/mutated on cs 15, paternal imprinting

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5
Q

Lesch-Nyhan Syndrome

A

XLR

Defective purine salvage due to absent HGPRT (converts hypoxanthine to IMP and guanine to GMP ==> excess uric acid prod and de novo purine synth

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6
Q

Orotic Aciduria

A

AR

defect in UMP synthase, converts orotic acid to UMP

Get orotic acid in urine, megaloblastic anemia that doesn’t improve with folate or B12, FTT

OTC deficiency: get hyperammonemia AND orotic acid in urine/blood

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7
Q

I-cell disease

A

inherited LSD, defect in phosphotransferase ==> failure of golgi to phosphorylate mannose residues on glycoproteins, protons secreted extracellularly rather than delivered to lysosomes

Coarse facial fx, clouded corneas, restricted joint mvmt, high plasma lysosomal enzymes, often fatal in childhood

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8
Q

Huntington Disease

A

AD, cs 4, CAG repeat

decreased levels of GABA and ACh
neuronal death via NMDA-R binding and glutamate toxicity. Atrophy of caudate nuclei on imaging

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9
Q

CS 7 mutations:

A

CF, Ehlers-Danlos syndrome, osteogenesis imperfecta

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10
Q

CS 16 mutations:

A

PCKD, tuberous sclerosis

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11
Q

CS 20 mutation:

A

MODY

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12
Q

Friedreich Ataxia

A

AR, cs 9, GAA repeat, degen of cerebellum and spinal cord tracts

Encodes frataxin: mitochondrial iron regulation, buildup of iron –> free radical damage

Presents in childhood w/ kyphoscoliosis

mm weakness, loss of DTRs, vibration, propriocep. Staggering gait, falling, nystamus, dysarthria, hammer toes, pes cavus, HCOM

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13
Q

ras

A

proto-oncogene,

bladder, lung, colon, pancreas, kidney cancer

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14
Q

N-myc

A

proto-oncogene

neuroblastoma, small cell lung carcinoma

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15
Q

BRCA-1 and 2

A

Tumor suppressors, DNA repair genes

breast and ovarian cancer

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16
Q

NF-1

A

tumor suppressor, cs17

neuroblastoma, NF-1, sarcomas

17
Q

ERB-B1

A

Proto-oncogene

Squamous cell lung carcinoma

18
Q

APC/beta-catenin

A

Tumor suppressor

gastric, colon, pancreatic cancer, FAP

19
Q

ERB-B2

A

Proto-oncogene

breast and ovarian cancer

20
Q

DCC

A

Tumor suppressor

Colon cancer

21
Q

TGF-alpha

A

Proto-oncogene

astrocytoma, hepatocellular carcinoma

22
Q

p53

A

Tumor suppressor, inhibits prolif of cells with genetic abnormalities

Most cancers, Li-Fraumeni syndrome

23
Q

sis

A

proto-oncogene

astrocytoma, osteosarcoma

24
Q

RB

A

tumor suppressor, suppresses the transition from G1 to S phase, inhibits proliferation

retinoblastoma, osteosarcoma, others

25
abl
proto-oncogene CML, ALL
26
WT-1
tumor suppressor Wilms tumor
27
NF-1
cs 17 Cafe au lait, lisch nodules, neurofibromas, inguinal/axillary freckles, optic nerve gliomas, pseudoarthrosis and other bony abnormal Assoc tumors: meningiomas, astrocytomas, gliomas, pheochromocytomas
28
ADPKD
Bilateral, assoc w/ polycystic liver dz, berry aneurysms, MVP PKD1: cs14 (85%) PKD2: cs4
29
FAP
presents after puberty, AD, cs5
30
NF type 1:
cs17, AD, 100% penetrance
31
NF type 2:
cs22, AD Bilat acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
32
VHL
cs3, tumor suppressor gene multiple bilat RCC, hemangioblastomas of retina/cerebellum/medulla
33
CF
AR, CFTR gene on cs7 MC lethal genetic dz in caucasian pop CFTR encodes ATP gated Cl- channel Mutated protein retained in RER More negative transepithelial potential difference b/c increased Na+ reabsorp
34
Myotonic type 1 muscular dystrophy
CTG trinucleotide repeat expansion in DMPK gene Abnormal expres of myotonin protein kinase --> myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmia Slow relaxation: "difficulty releasing doorknob" Biopsy: type 1 muscle fibers have more atrophy
35
Downs quad screen (second trimester):
Increased: hCG, inhibin A Decreased: AFP, estriol First trimester US: nuchal transluc, hypoplastic nasal bone PAPP-A is decreased
36
Edwards quad screen:
Everything decreased! (AFP, hCG, estriol, inhibin A) micrognathia, low set ears, clenched hands
37
Patau first trimester pregnancy screen:
decreased: free hCG, PAPP-A Nuchal translucency cleft lip/palate, holoprosencephaly, polydactyly
38
Cri du chat:
cs 5 short arm microdeletion microcephaly, intellec disabil, high pitched cry/mew, epicanthal folds, cardiac abnorm (VSD)
39
Williams syndrome
cs7 long arm microdeletion - deleted region includes elastin gene elfin facies, intellectual disability, hypercalcemia (increased vit D sensitivity), well devel verbal skills, extreme friendliness with strangers, CV problems

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