Genetics Final Flashcards

Question

Southern blot

Answer 1

Detect a DNA sequence in a DNA sample isolated from a cell

Answer 2

1. Isolate gene 2. Cut w/ Restriction Enzyme (like EcoR1) 2. Agarose gel Electrophoresis 3. Transfer to Paper (gel> buffer> paper> paper towels> heavy object) 4. Add specific radioactive probe (oligonucleotide or other) 5. Radioactive probe & selected gen hybridize show up on x-ray film

Answer 3

Tests for RNA; extract RNA from cell (mRNA) then follow the same steps as Southern blot

Answer 4

run protein gel PAGE (polyacrylamide; smaller pores)

Answer 5

1. Run proteins 2. transfer to paper (electrophoresis) 3. SDS page: sodium dodecylsulfate (-), ionic detergent binds to proteins proportional to weight (separation caused by mass) 4. Probe with specific antibody, bind specifically w/ foreign substance such as a specific inserted protein. The protein is thus an antigen.

Answer 6

US gov. and private funding awarded contracts to labs for sequencing a particular chromosome

Answer 7

1. To make a detailed map of markers 2. Clone all humane DNA into vectors (BAC - bacterial artificial chromosome, 150,000 bp insert) 3. Take all BACs and determine what markers they contain and position them on a chromosome 4. Sequencing: take BAC and subclone its insert into plasmids to be sequenced using Sanger sequencing

Answer 8

1. VNTRs (variable nucleotide tandem repeat) DIS80: unique marker present at only one particular position on the chromosome 2. ESTs (expressed sequence tags): take exon and find out where it maps to; give it a number; find out where it marks

Answer 9

use BAC (bacterial artificial chromosome) about 150,000 bp inserts, 500,000 BACs needed

Answer 10

linked BACs into one sequence

Answer 11

linked contigs after gaps are filled in

Answer 12

ends of the same cloned insert (unknown in btw) | --compared w/ other inserts (long-insert vector) to determine what occurs in between

Answer 13

Raced the HGP to sequence the human genome 1. Cloned all DNA 2. Random sequencing 3. Computer- intensive, assembly of fragments

Answer 14

cut your genome, map it, let a computer put it back together

Answer 15

example: 50nts that only occur once - Make up 50% of the Human Genome - some genes are protein coding (1% of HG) - Spacer seq (25% of HG) & Introns (24% of HG)

Answer 16

The sequences in between genes - -unique sequences - -non-coding

Answer 17

sequences that appear multiple times (50% of human genome) - gene gamilies - telomeres - centromers - VNTRs - RFLPs - Dinucleotide Repeats - Transposable Elements

Answer 18

tandem duplication of a region - -A and A* are considered a gene form, derived from repeat of the same gene that has been mutated - -Ex. globins, actins, myosins, tubulions... all related protein w/ similar function

Answer 19

Highly repetative sequences that protect the end of chromosomes

Answer 20

Repeats in DNA that bind kinetocore for replication, satellite DNA

Answer 21

polymorphic sites (like DIS80) made up of different repeats

Answer 22

restriction fragments that link polymorphisms (VNTRs)

Answer 23

Repeats of two nucleotides that may help with homolog pairing ex. AGAGAGAG

Answer 24

The majority of repetitive DNA (40% of HG) 1. Transposons 2. Retrotransposons

Answer 25

DNA element able to move itself at a DNA level; can cut and paste in sequence - -Observed by Barbara McClintock - -Could cause mutations

Answer 26

The copy and past mech utilized by RNA intermediate - -Sequence encodes RT, which is transcribed and translate. The enzyme then works to paste it back into the DNA genome for a second retrotransposon - -LINE (20% of HG) - -Retroviral-like-sequence (8% of HG) - -SINE (13% of HG)

Answer 27

A retrotransposon of 30,000 to 500,000 repeats per genome, encodes reverse transcriptase for autonomous transportation

Answer 28

A retrotransposon, LTRs & reverse transcriptase

Answer 29

A retrotransposon, does not encode reverse transcriptase, but large number of repeats

Answer 30

1. Genomes became messy over time as organisms became complex 2. All genomes began messy, but bacteria have evolved to have a simpler genome

Answer 31

- -Error in meiosis; nondisjunction, the homologs do not separate - -"not euploid," gametes with chromosome numbers intermediate between the haploid and diploid number

Answer 32

- organisms that have more than two chromosome sets - -Trisomic or Trisomy: a normal gamete fertilizes an nondisjunct gamete, making a 3n offspring instead of 2n - -3N triploid & 4N tetraploid > never lead to live birth in humans

Answer 33

Down-syndrome, a type of autopolyploidy (an aneuploidy) | --(47xy + 21) = 1 extra chromosome

Answer 34

Lethal loss of a chromosome | -- (45xx -15)

Answer 35

relation between: number of gene copies and the amount of the gene's product --in humans and most higher animals aneuploidy is not tolerated due to this

Answer 36

- - XXY (male) Klinefelter Syndrome - over-expression of x | - - 45x0 (female) Turner Syndrome - under-expression of x

Answer 37

Mutation has many phenotypic effects

Answer 38

polyploid formed from the doubling of a single genome | --Chromosomes originate from one species

Answer 39

Patan; a type of autopolyploidy (an aneuploidy) | --Fatal

Answer 40

Edwards; a type of autopolyploidy (an aneuploidy) | --Fatal

Answer 41

An all female population of 3N salamanders that reproduce by Parthenogenesis. A. jeffersonianum (2N jj) + A. laterale (2N ll) = A. platineum (3N jjl) produced by hybridization, an allopolyploidy.

Answer 42

a polyploid formed from the union of two separated chromosome sets and their subsequent doubling --Contain sets from two or more different species

Answer 43

ex. Wheat-- created by two hybridizations AA x BB > AB hybrid (infertile, fails first division) > AABB (4N meiosis, tetraploid) x DD > AABBDD hexaploid 6N=42 --Polyploids are often larger than their diploid relatives

Answer 44

Autopolyploidy that occurs within a species 2N > 4N ex. 2N watermelon x 4N watermelon > 3N - -Contain multiple chromosome sets originating from within one species

Answer 45

1. Deletion - lose part of a chromosome 2. Inversion - movement of a nucleotide (heterozygous; parcentral) 3. Translocations (reciprocal) - like a cross over between non-homologs 4. Duplications - repeat of a nucleotide

Answer 46

An inversion not including the centromere

Answer 47

macrodeletion, can be seen in karyotype

Answer 48

microdeletion; deletion of 15q11-13

Answer 49

fluorescence in situ hybridization; used to detect presence or absence of specific DNA sequence, detects deletions

Answer 50

like a cross-over of two non-homologous chromosomes, uses meiotic machinery --two chromosomes trade acentric fragments created by two simultaneous chromosome breaks

Answer 51

translocation that is - associated w/ cancers - ex. Pairing of chromosomes #9 & #22 (phenotype CML) Associated w/ the Philadelphia Chromosome. Genes ABL & BCR end up on chromosome #22, they are proto-oncogenes (growth regulatory). ABL is up-regulated to increase expression.

Answer 52

translocation that make infertile gametes

Answer 53

Unequal crossing-over in meiosis; an extra copy of some chromosome region due to the processes of mutation Meiosis I ABCDEFG > ABCEFG ---gamete 1 abcdefg > abcddefg ---gamete 2 gamete 2 > abcdddde > repeats cause bubble

Answer 54

a normally diploid species that has only one chromosome set (n) -ex. Normal > AA BB CC Monoploid > A B C

Answer 55

the development of a specialized type of unfertilized egg into an embryo without the need for fertilization

Answer 56

A type of allopolyploid which causes a doubled diploid

Answer 57

the loss of a part of one chromosome arm | --two chromosome breaks to cut out the segment

Answer 58

a small deletion within a gene, inactivates the gene and has the same effect as other null mutations

Answer 59

several to many genes are missing

Answer 60

a loop formed by failure of the corresponding segment on the normal homolog to pair

Answer 61

when recessive alleles are expressed like dominant alleles due to deletion of the homolog

Answer 62

duplicate regions adjacent to each other

Answer 63

duplications not adjacent

Answer 64

bigger duplications (large regions)

Answer 65

a segment of a chromosome is cut out, flipped, and reinserted

Answer 66

Inversion is spanning the centromere

Answer 67

one chromosome twists once at the ends of the inversion to pair with its untwisted homolog

Answer 68

Crossing over within the inversion loop at meiosis connects homologous centromeres

Answer 69

apparent linkage of genes normally known to be on separate nonhomologous chromosomes

Answer 70

cloning and genome sequencing leads to gathering lots of sequence information that requires organization into a computer > GenBank --sets of databases and programs of analysis

Answer 71

study of the DNA sequence level by: 1. SNPs 2. Data "mining" 3. Comparative genomics 4. Gene regulatory networks

Answer 72

single nucleotide polymorphisms; mutations that occurred a some point (in evolution) & spread through parts of the population

Answer 73

take a group of people (like a family) & compare their genome and phenotypes. Those showing the phenotype have the SNP.

Answer 74

studies non-coding sequences

Answer 75

studies misc parts like miRNAs (1000s w/in a genome)

Answer 76

take DNA sequences from different species and compare them to see evolution/phylogeny

Answer 77

study of genomes at the RNA level

Answer 78

allow us to measure the expression of a gene at RNA level (mRNA) - 10,000 to 20,000 etched spots, each spot has a specific oligonucleotide for each gene (exon), which is double stranded for hybridization - used to determine what genes change in the presence of cancer

Answer 79

Patterns of proteins (amounts) being produced in different cell types -protein to protein interactions, interactome

Answer 80

Tests whether x and y physically interact: - Tested in vivo - Gal 4 protein in yeast involved in lactose utilization, a transcription factor, has two domains. - -The protein can be separated into those two domains: Binding and Activation. A two gene fusion can be created of the x being tested and the activation domain. This is inserted into one genome. Another fusion is made between y and the binding domain. That fusion is inserting into another genome. Both are plated together. If x binds Y then the reporter gene (a marker like lacZ) is turned on and the cells turn blue.

Answer 81

binds to DNA elements, like pol. II

Answer 82

interacts with general transcription machinery to start transcription

Answer 83

sever combined immunodeficiency disease | --treated by gene therapy