Genetics Flashcards by Andrea Gonzalez

autosomal recessive diseases

(disease)
1. cystic fibrosis
2. PKU
3. oculocutaneous albinism
4. freiderich ataxia
5. kartagener syndrome
6. ARPKD

(blood)
sickle cell
thalassemia

(build-up)
wilson’s
hemochromatosis
glycogen storage diseases
sphingolipidoses
hurler

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x-linked recessive disorders

+ menkes & SCID

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x-linked dominant diseases

fragile x syndrome
hypophosphatemic rickets
rett syndrome

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autosomal dominant diseases

“Hunting Family MAN”

huntington disease
familial hypercolesterolemia
marfan syndrome
acute intermittent porphyria
neutofibromatosis type 1

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diseases with delayed age of onset

acute intermittent porphyria
huntington disease
hemochromatosis
familial breast cancer

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cause of prader-will syndrome

deletion of paternal 15q

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cause of angelman syndrome

deletion of maternal 15q

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prader willi presentation

hyperphagia + obesity
intelectual disability
hypogonadism
hypotonia

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angelman syndrome presentation

“happy puppet”

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hardy-weinburg equilibrium

equation + meaning

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genetic mutation:
chrominc myelogenous leukemia

t(9;22)

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genetic mutation:
acute myelogenous leukemia

t(15;17)

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genetic mutation:
follicular lymphomas

t(14;18)

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genetic mutation:
burkitt lymphoma

t(8:14)

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genetic mutation:
mentle cell lymphoma

t(11:14)

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LOD scores for linkage nad nonlinkage

> 3: linkage
< -2: non linkage

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🚩 unilateral cafe-au-lait spots with ragged edges

McCune Albright Syndrome

+
plyostic fibrous dysplasia
at least one endocrinopathy

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duchenne muscular dystrophy:
mutation + presentation

frameshift or nonsense mutation –> truncated/absent dystrophin

weakness (perlvic girdle, north progression)
pseudohypertrophy of calf muscles
gowers sign (helps stand up)
waddling gait

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myotonic dystrophy:
mutation + presentation

trinucleotide repeats (CTG)

Cataracts, Taupe (frontal baldness), gonadal atrophy, arryhtmias

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fragile x:
mutation + syndrome presentation

trinucleotide repeat: CGG of FMR1 gene -> hypermetilation

Chin (protruding)
Giant Gonads
mental retardation
MVP
self mutilation

(>200 repeats = full mutation)

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heteroplasmy

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease.

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presentation of familial hypercholesterolemia heterozygotes vs homozygotes

Ht: LDL 190-550 mg/dL

Homo: LDL >500, multiple xanthomas, early MI

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HEXA gene mutation

(hexoaminidase A)
tay-sachs

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SOD 1 gene mutation

(copper-zinc superoxide dismutase)
ALS

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ATP7A / ATP7B

A (abscence of copper) -> Menkes Disease B -> (build up of copper -> Wilson's Disease

hereditary hemochromatosis mutation

HFE C282Y

JAK2 mutation

polycythemia vera

DiGeorge mutation + presentation

**del 22q11** *"CATCH22"* Cardiac abdnormalities Abnormal fascies Thymic aplasia Cleft palate Hypoparathyroidism/hypocalcemia

neurofibromatosis type I: inheritance + mutation + presentation

neurofibromatosis type II: inheritance + mutation + presentation

von Hippel-Lindau: inheritance + mutation + presentation

3 mitochondrial diseases?

myopathies: MELAS / MERRF leber hereditary optic neuropathy

MELAS

Mitocondrial Encephalomyopathy with Lactic Acidosis and Strokelike episodes

MERRF

Myoclonic Epilepsy with Ragged Red Fiber

🚩 mitochondrial crystalline inclusions

mitochondrial myopathies (MELAS/MERRF)

what is the congenital cardiac abnormality associated with cri-du-chat?

**VSD** *"I cry when I am Very SaD"*

KRAS mutation

associated with: * colorrectal cancer * pancreatic dutal adenocarcinoma * non-small cell lung cancers

what do HOX genes code for?

**transcription factors** that bind to DNA and alternate expression of genes involved in segmental organization of the embryo

alzheimer mutations

**early onset (β-amyloid):** * APP, chrom 21 * presenilin 1 gene, chrom 14 * presenilin 2 gene, chrom 2 **late onset (senile plaques):** * ε4 allele of ApoE (ApoE4)

PATAU presentation

EDWARDS presentation

bloom syndrome: mutation + presentation

mutation in BLM gene -> encodes for DNA helicase * growth retardation * facial anomalies * photosensitive rash * immunodeficiency

complete hydatiform mole: cause, karyotype, clinical findings

fertilization of an ovum with no maternal chomosomes by one sperm (23X) -> duplicated 46,XX mass with multiple cystic areas, "swiss cheese" or "snowstorm," no fetal tissue

partial hydatiform mole: cause, karyotype, clincal findings

fertilization of an ovum by 2 sperm 69, XXX or 69, XXY contain fetal tissue and normal placental villi

🚩 bilateral abscence of the vas deference

cystic fibrosis

↑ maternal a-feto protein

* multiple gestations * neutral tube defects (anencephaly, spina bifida) * ventral wall defects (omphalocele, gastroschisis)

down syndrome quadruple screen results

"hi up" ↑ B-hCG + ↑ inhibin A ↓ MSAFP + ↓ estriol

edwards quadruple screen results

all low

cardiovascular abnormality associated with turner sydrome

coartation of the aorta aortic dissection bicuspid aortic valve

cardiovascular abnormality associated with DiGeorge syndrome

tetralogy of fallot interrupted aortic arch truncus arteriosus

cardiovascular abnormality associated with fredreich ataxia

hypertrophic cardiomyopathy

cardiovascular abnormality associated with kartagener syndrome

situs inversus

what are P bodies

foci in eukaryotic cells * mRNA regulation * mRNA turnover * mRNA silencing * mRNA storage

🚩 horseshoe kidney

turner syndrome

locus heterogeneity

mutation at different genetic loci result in similar phenotypes

allelic heterogeneity

different mutations at the same genetic locus result in the same phenotype

allelic heterogeneity

different mutations at the same genetic locus result in the same phenotype

dyskeratosis congenita

mutation in the genes related to telomere maintenance that results in **short telomeres**

what makes DNA polymerase I unique?

the only prokaryotic polymerase that also has 5'-3' exonuclease activity removes RNA primers & repair damaged DNA

most common cause of familial dilated cardiomyopathy

nonsense mutation affecting TTN gene (encodes for titin)

achondroplasia: mutation + inheritance

activation of FGFR3 85% sporadic mutation due to advanced paternal age 15% AD (homozygus is deadly)

what does a defect in anaphase cause?

nondisjunction

what does a defect in prophase cause?

chromomal translocation