Genomics Flashcards

1
Q

Genomics

A

Study of the genome (entire genetic material of an organism)

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2
Q

Structural Genomics

A

Study of gene structure

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3
Q

Cytological mapping

A

Banding pattern of stained chromosomes

G bands produced by Giemsa staining are rich in A:T regions (regions of compact chromatin)

Used to detect chromosomal translocations

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4
Q

FISH

A

Fluorescence in situ hybridization

Uses biotin bound probe detected with avidin bound to a fluorescent dye

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5
Q

Physical mapping

A

Arranges sequence features on a linear map

Provides location of DNA sequences on a chromosome

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6
Q

Contig Map

A

Set of overlapping genomic DNA clones ordered by restriction mapping

Presence of a particular STS or EST on a genomic fragments used to order clones to their position on a chromosome by comparing their position relative to other STS or ESTs

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7
Q

Sequence Tagged Sites (STS)

A

Short unique genomic sequences (200-500 bp), usually derived from whole genome sequencing

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8
Q

Expressed Sequence Tags (ESTs)

A

Short cDNA sequences

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9
Q

Genetic Mapping

A

Based on genetic markers that occur due to DNA polymorphisms

Relative positions of markers mapped by determining recombination frequencies in crossings or co-segregation in pedigrees

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10
Q

Restriction Fragment Polymorphisms (RFLP)

A

Occurs due to addition or deletion of RE sites

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11
Q

MInisatellite (Variable Number Tandem Repeates- VNTR)

A

Polymorphic locus of short (10-80 nucleotides) DNA sequences present as several tandem repeats of varied number

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12
Q

Microsatellite (Short Tandem Repeats- STR)

A

Same as VNTR but repeat units are shorter (~10 nucelotides)

Polymorphisms are due to varibale number or repeats between RE sites

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13
Q

Single Nucleotide Polymorphisms (SNPs)

A

Single base pair substitution within a reference sequence

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14
Q

Haplotypes

A

Set of SNPs on the same chromosome that are inherited together

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15
Q

Hapmap

A

Catalog of SNPs/haplotypes in a population that can be used for tracing evolutionary history or predicting disease susceptibility

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16
Q

Anchor Marker

A

DNA sequences that are mapped both genetically and physically

FISH can be used to link these to the cytological map

17
Q

Positional Cloning

A

Identifying chromosomal position of a gene responsible for a disease by association (pedigree analysis) with mapped genetic markers (RFLP, STRs, SNPs) and then using mapping techniques (Contig assembly and screening) to clone the gene

18
Q

Human Genome Project

A

Public funded Human Genome Organization (HUGO) and privately owned company (Celera) compete at mapping and sequencing human genome

19
Q

HUGO Method

A

Created genetic maps

  • Ordered contigs for each chromosome
  • Sequenced each contig
20
Q

Celera Method

A

Shotgun sequencing

  • Randomly fragment genome
  • Sequence each fragment
  • Order fragments using a computer
21
Q

Encode

A

Encyclopedia of DNA Elements

22
Q

Comparative Genomics

A

Study of genome evolution and comparison of genomes of various organisms

23
Q

Bioinformatics

A

Deduce structure/function of gene products

Create phylogentic trees based upon DNA sequence comparisons to study chromosomal and genome evolution

24
Q

Functional Genomics

A

Study of gene function

25
Q

Transcriptome

A

Entire set of mRNA transcripts in a biological sample

26
Q

DNA Microarray

A

Measures gene expression on a large scale- shows which RNAs are expressed, and their abundance in a cell under specific set of conditions

Microarray contains many DNA porbes on a solid support

Labelled cDNA hybridized to microarray and bound cDNA analyzed using a fluorescence detector

27
Q

Proteome

A

Entire set of proteins in a biological sample

Comparative proteomic studies can identify differences in protein expression between 2 biological samples

28
Q

Interactome

A

Entire set of protein-protein interactions in a biological sample

29
Q

Giemsa Staining:

A

• DNA dye that preferentially binds A-T regions (heterochromatic regions)

○ Produces dark “G bands” on chromosomes

Used to produce a karyotype