Principles of Genetic Inheritance Flashcards

1
Q

mtDNA problems

A

no repair mechanisms, HELLA mutations

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2
Q

mt Inheritance Pedigree

A

all of mother’s offspring are affected

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3
Q

Leber’s Hereditary Optic Neuropathy (LHON)

A

degeneration of retinal ganglion cells

caused by mtDNA point mutation affecting NADH dehydrogenase

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4
Q

Myoclonic Epilepsy and Ragged Red Fibers (MERRF)

A

caused by mutation in the gene encoding for tRNA for lysine, which messes up the synthesis of cyt-C oxidase

(muscles and nerves)

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5
Q

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)

A

-most common maternally-inherited mt disease-

caused by single point mutation preventing pyruvate use, making body use lactic acid

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6
Q

What is a euploid?

A

cells with a normal number of chromosomes

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7
Q

Polyploidy

A

cells contain a complete set of extra chromosomes in cells (plants)

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8
Q

Aneuploidy

A

cells contain a missing or additional individual chromosome(s)
–monosomy, trisomy

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9
Q

Genomic Imprinting

A

gene silencing through methylation of 5’ region of gene

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10
Q

Uniparental Disomy

A

two chromosomes are inherited from the same parent

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11
Q

Turner Syndrome

A

Karyotype: 45, XO (missing an X)

short, do not go through puberty, infertile, cv defects

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12
Q

Angelman Syndrome

A

maternal deletion of chromosome 15, severe intellectual disability

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13
Q

Prader-Willi Syndrome

A

paternal deletion of chromosome 15, short, obese, uncontrolled eating, intellectual disability

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14
Q

Angelman Syndrome

A

maternal deletion of chromosome 15, severe intellectual disability

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15
Q

Klinefelter Syndrome

A

Karyotype: 47, CXXY

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16
Q

Trisomy 21

A

Down Syndrome
Karyotype: 47, XX +21
most common

17
Q

Trisomy 18

A

Edwards Syndrome
Karyotype: 47, XX +18
most die in utero, and few survive beyond 1 yr.
microencephaly, cleft lip/palate, o

18
Q

Trisomy 13

A

Patau Syndrome
Karyotype: 47, XX +13

Severe developmental abnormalities
In utero death, die shortly after birth
heart abnormalities, kidney malformations, CNS dysfunction

19
Q

Trisomy 13

A

Patau Syndrome
Karyotype: 47, XX +13

Severe developmental abnormalities
In utero death, die shortly after birth
heart abnormalities, kidney malformations, CNS dysfunction

20
Q

Reduced/Incomplete Penetrance

A

frequency a gene is phenotypically shown (100% would mean that all people with genetic defect show it)

21
Q

Retinoblastoma

A

Autosomal dominant

phenotype occurs 90% of individuals, meaning 90% penetrance

22
Q

Locus Heterogenetiy

A

Single disorder, trait, or pattern of traits caused by mutation in genes at different chromosomal loci
-aka only one mutant locus is needed for the effect to be seen phenotypically

23
Q

Independence

A

occurrence of one does not affect the probability of occurrence of the other

24
Q

Hardy-Weinberg Principle

A

relationship between gene frequency and genotype frequency

useful for estimating gene frequency from Disease Prevalence Data

25
Q

Hardy-Weinberg Equation

A

p^2 + 2pq + q^2 = 1