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Genetics- Katie > chapter 20 lecture 15 > Flashcards

chapter 20 lecture 15 Flashcards

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Biology 101 flashcards
1
Q

structural genetics

A

organization and sequence of genetic information contained within a genome

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2
Q

genetic maps

A
  • (linkage map) approximate locations of genes, relative to the location of other genes, based on the rates of recombination
  • limitations
  • -low resolution or detail – do not correspond to physical distances between genes
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3
Q

physical maps

A

based on direct analysis of DNA, and place genes in relation to distances measured in number of base pairs, kilobases, or megabases
- higher resolutions and more accurate than genetic maps
~limitations~
- doesn’t tell us order or precise location of the restriction sites

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4
Q

What are some of the limitations of genetic maps

A
  • low resolution or detail

- do not correspond to physical distances between genes

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5
Q

What was the first step in mapping the human genome?

A

detailed physical and genetic maps

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6
Q

how was genome assembled?

A

sequence of entile chromosomes assembled bu piecing together small overlapping fragments to create large contigs that were eventually combined into a long linear sequence anchored by previously established markers

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7
Q

A contig is :

a. a set of molecular markers used in genetic mapping
b. a set of overlapping fragments that form a continuous stretch of DNA
c. a set of fragments generated by a restriction enzyme
d. a small DNA fragment used in sequencing

A

b. a set of overlapping fragments that form a continuous stretch of DNA

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8
Q

single- nucleotide polymorhisms (SNPs)

A

a site in the genome where individual members of a species differ in a single base pair

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9
Q

haplotype

A

specific set of SNPs and other genetic variants observed on a chromosome

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10
Q

Use of SNPs

A

valuable markers in linkage studies

  • when a SNP is close to a disease it tends to be inherited with disease
  • leads to people with disease to have different SNPs than healthy people
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11
Q

copy-number variations (CNV_

A

number of copies of DNA sequences varies from people to people (greater than 1000 bp)

  • may include deletions or duplications
  • most contain multiple genes and potentially affect the phenotype
  • have been found to be associated with psoriasis, schizophrenia, autism, and mental retardation
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12
Q

expressed-sequence tags (ESTs)

A

markers associated with DNA sequences that are expressed as RNA
- obtained by isolating RNA from a cells and subjecting it to reverse transcription, producing a set of cDNA fragments
0 cDNA fragments are sequenced and the sequence (tag) identifies the DNA fragment

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13
Q

bioinformatics

A

molecular biology + computer science

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14
Q

How will the cDNA sequence differ from the genomic sequence ?

A

Genome is the whole thing and cDNA is just a fragment with no introns!

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15
Q

What was the goal of the HapMap project

A

to catalog and map SNPs and other human genetic variants

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16
Q

the ab initio approach finds genes by looking for

a. common sequences found in most genes
b. similarity in sequence with known genes
c. mRNA with the use of in situ hybridization
d. mutant phenotypes

A

a. common sequences found in most genes

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17
Q

metagenomics

A

sequencing genomes of entire communities of organisms

- ex. human gut flora

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18
Q

synthetic biology

A

novel organisms created by stitching together functions genomic sequences

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19
Q

functional genomics

A

characterizes what the sequences do

- the Encode project aims to ID all functional elements in the human genome

20
Q

transcriptome

A

all the RNA molecules transcribed from a genome

21
Q

proteome

A

all the proteins encoded by the genome

22
Q

Encode project purpose

A

to carry out a project to identify all functional elements in the human genome sequence

23
Q

homologous

A

genes that are evolutionarily related

- ex. NKX2,5

24
Q

orthologs

A

homologous genes in different species that evolved from the same gene in a common ancestor

  • when speciation happens
  • NKX2,5 in flies vs. humans
25
Q

Paralogs

A

homologous genes arising by duplication of a single gene in the same organism

26
Q

What is the difference between orthologs and paralogs?

a. orthologs are homologous sequences; paralogs are analogous sequences
b. orthologs are more similar than paralogs
c. orthologs are in the same organism; paralogs are in different organisms
d. orthologs are in different organisms; paralogs are in the same organism

A

d. orthologs are in different organisms; paralogs are in the same organism

27
Q

Gene expression and micro arrays

A

nucleic acid hybridization: using a known DNA fragment as a probe to find a complementary sequence

  • can be used to determine which RNA and DNA sequences are present in a mixture of nucleic acids
  • capable of determining which RNA molecules are being synthesized and can thus be used to examine changes in gene expression
28
Q

gene expression and reporter sequences

A

reporter sequence: encoding an easily observed product used to track the expression of a gene of interest
- patterns of gene expression studied using a reporter gene to study promoter function

29
Q

genomewide mutagenesis

A

mutagenesis screen

  • genes affecting a particular characteristic or function can be identified
  • when coupled with positional cloning can be used to ID genes that affect a specific characteristic or function
30
Q

What will happen if an essential gene is mutated?

A

a lot will die bu some will live and show new characterisitcs
- if mutation not dormant will find characterisitc in 2nd or 3rd generation

31
Q

which is the correct order of steps in a mutagenesis screen?

a. positional cloning, mutagenesis, identification, of mutants, verification of genetic basis
b. mutagenesis, positional cloning, identification if mutants, verification of genetic basis
c. mutagenesis, identification of mutants, verification of genetic basis, positional cloning
d. identification of mutants, positional cloning, mutagenesis, verification of genetic basis

A

c. mutagenesis, identification of mutants, verification of genetic basis, positional cloning

32
Q

comparative genomics

A

compares the content and organization of whole genomic sequences from different organisms

33
Q

prokaryotic genomes

A

small genomes usually ranging from 1 million to 3 million base pairs
- several 1,000 genes
0ones with smallest genomes tent to occupy restricted habitats, largest in more complex environments
- horizontal gene transfer has palyed a major role in bacterial genome evolution

34
Q

what is the relation between genome size and gene number in prokaryotes?

A

species with larger genomes generally have more genes than species with smaller genomes, and so gene density is quite constant

35
Q

eukaryotic genomes

A

genome size varies greatly - for multicellular organisms there is no clear relation between organismal complexity and amount of NDA or gene number.

  • a substantial part of the genome consists of repetitive DNA, much of which is derived from transposable elements
  • many genomes have homologous genes in common
  • genes are often in same order in the genomes of related organisms
36
Q

segmental duplication play an important role in evolution by

a. giving rise to new genes and multigene families
b. keeping the number of genes in a genome constant
c. eliminating repetitive sequences produced by transposition
d. controlling the base content of the genome

A

a. giving rise to new genes and multigene families

37
Q

colinearity

A

presence of many genes in the same order in related genomes due to evolution from a common ancestor genome

38
Q

Why is knowledge of a proteins structure important

A

structure often provides important information about how a protein functions and the types of proteins with which it is likely to interact

39
Q

what are some unique proteins encoded by the human genome that are not found in other animals include hose affecting:

A
  • immune function
  • neural development
  • structure and functiono
  • intercellular and intracellular signaling pathways in development
  • hemostasis
  • apoptosis
40
Q

what % of the DNA is transcribed into RNA

A

probably more like 80% instead of previously thought 25%

41
Q

2d-PAGE

A

will separate on accumulated pH based on the charge they carry and then by size

42
Q

mass spectrometryq

A

can ID the components of a protein while it’s in a mixture

- must be in small fragments before ionization

43
Q

affinity capture

A

method of separating biochemical mixtures based on a highly specific interaction such as that between antigen and antibody, enzyme and substrate, or receptor and ligand

44
Q

interactome

A

the whole set of molecular interactions in a particular cell
- specifically refers to physical interactions among molecules (ie protein-protein interactions) but can also describe sets of indirect interactions among genes (gene interactions)

45
Q

protein microarrays

A

can be used to study protein-protein interactions of thousand of proteins at once

  • useful for diagnosis cancers
  • ex heart attack because know certain proteins are released and shouldn’t be these unless there is a problem

Genetics- Katie (15 decks)

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