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Flashcards in Genetics flash Deck (47)
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Questions

Answers

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Restriction fragment lengthpolymorphism (RFLP)

Use restriction enzyme that cuts at specific sequences and measure sequence lengths

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Short tandem repeats (STRP)

microsatelite repeats.

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Variable number tandem repeats (VNTR)

Minisatelite repeats. Can be detected via MW

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Copy number variation (CNV)

Used to detect DNA polymorphisms. All people have same genes, some have extra copies

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Single nucleotides polymorphism (SNP)

Single base change. Most common

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Automated sequencing

Allows us to build whole genome databases for individuals to provide personalized medicine

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Microarray

Oligo nucleotide probes on microarray that bind fluorescently labeled DNA from subject that is complementary. Used to profile gene expression.

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Genetic drift

Shift in observed allele frequency from expected from generation to generation due to small population

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Founders effect

Subset of genetic drift (small founding population) and some sort of natural selection/ heterozygote advantage

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Gene flow

Change of allele frequency due to admixture and migration

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Proband

Person from whom the pedigree is initiated

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Consanguinity

Mating between related persons

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Penetrance

% of individuals that have a certain genotype and express the expected phenotype. (# people with pheno)/(# people with geno.)

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Expressivity

Degree to which a genotype is expressed. Variation of severity

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Genetic anticipation

Genetic trait is more strongly expressed and earlier in life expressed with each subsequent generation due to increase of triplet nucleotide expansion

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Haplotype

Multiple components or loci (ex. A1B1 and A2B2), exhibt linkage

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Linkage Disequilibrium

Certain haplotype is more dominant than others, possibly linked to disease while lesser ones are linked

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Bad disease marker

Marker segregates randomly, meitotic crossing over

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LOD score

Logarithm of odds score. Measures recombination between marker and genetic disease. Lod 3 = 1000:1, significant. Lod -2 is exclusion of marker.

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Physical genetic mapping

Use genomic library and genome sequence from human genome project and preform "chromosome walking"

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Genetic linkage

Shared within families. Different families have different segments.

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Genetic Association

Same variation shared across all families

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Epigenetics

Heretible changes in gene expression due to mechanisms other than underlining DNA sequence. Epigenetic marks are erased during gametogenesis/ embryogenesis or linger for 2-3 generations

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What nucleotide is methylated

Cytosine

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DNA methylation

Transcriptional silencing, protect genome from transposition, genomic imprinting, X inactivation, tissue specific gene expression. Established new every generation

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Histone modification

Acetylation, methylation, phosphorylation, ubiquitilation, different histone combinations

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Eurchromatin

DNA is unmethylated, histone is acetylated. Transcription on

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Heterochromatin

DNA is methylated, histones are deacetylated. Transcription off

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HAT

histone acetylase, acetylated histones to make them active