Exam III Review Analyzing Genetic Variation Chapter 10

Question 1

Affecting neither the nature nor the amounts of any protein in the body. Signpost in the genome.

Answer 1

Anonymous DNA polymorphisms/DNA markers

Question 2

Proteins with signal binding site outside the cell, transmembrane segment, and and intracellular domain

Answer 2

Single nucleotide polymorphism

Question 3

Sequence differences often located either between jeans or in Introns

Answer 3

DNA polymorphisms

Question 4

Short insertions or deletions of a single base pair or a few base pairs, occur once about every 10 kilobases

Answer 4

Deletion – insertion polymorphisms (dips)

Question 5

Also called microsatellites, 1 to 10 bases repeated in tandem 10 to 100 times occur once in every 30 kilobases have no effect except in trinucleotide repeats within jeans. Highly polymorphic.

Answer 5

Simple sequence repeats SSrs

Question 6

Large blocks of duplications or deletions from 100 BP to 10 mb. Most are inherited. Highly polymorphic because of their potential for unequal crossing over.

Answer 6

Copy number variants

Question 7

Method of making many copies of a targeted region of DNA. Amplifies defined regions of the genome. 2n

Answer 7

Polymerase chain reaction

Question 8

Fetal cells and amnionic fluid are extracted using a needle

Answer 8

Amniocentesis

Question 9

Utilizes in vitro fertilization to genotype embryos before placing in womb. Woman is injected with FSH. Eggs are removed and fertilized with sperm in vitro. At 6 to 10 cell stage one cell is removed and used for genotyping. Selected embryos are transferred into the uterus.

Answer 9

Pre-implantation embryo diagnosis

Question 10

Combined DNA indexing system. DNA from a crime scene may be matched to a person or can establish innocence. Siblings and parents and children share 50% of their DNA sample Familial searches are possible. maintained by the FBI.

Answer 10

Codis

Question 11

Ability of complementary single strands of DNA or RNA me to come together to form double-stranded molecules. short hybridization probes can distinguish single base mismatches. No mismatch? hybrid will be stable at high temperatures. Mismatch? hybrid will denature at high temperature.

Answer 11

DNA MicroArrays genotype millions of snps.

Question 12

Attached to a solid support like a silicon chip, hybridize with nucleic acid

Answer 12

Allele specific oligonucleotides

Question 13

An allele present long before the human species took form

Answer 13

Ancestral allele

Question 14

Changed nucleotide

Answer 14

Derived allele

Question 15

Extensions of the Sanger sequencing approach are One, individual DNA molecules being synthesized by DNA polymerase are anchored in one place. Second these methods control base addition temporarily so that each base can be identified before the next one is added third, in some systems the sensitivity of detection can be my one single molecule of DNA can be monitored without the need for cloning or PCR amplification.

Answer 15

New techniques sequence millions of individual DNA molecules in parallel

Question 16

DNA microarray (also commonly known as DNA chip or biochip) is a collection of microscopic DNA spots attached to a solid surface. Scientists use DNA microarrays to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome.

Answer 16

Microarray

Question 17

Lod= (P,(obtaining observed results if loci are linked at the given RF)/P(obtaining observed results if loci are unlinked)). Formula for determining how much more likely it is that the particular allele transmission pattern observed in a pedigree would have been seen if the loci were linked at any given recombination frequency less than 50% then if they were not linked.

Answer 17

Lod score

Question 18

a method for separation and analysis of macromolecules (DNA, RNA and proteins) and their fragments, based on their size and charge

Answer 18

Gel electrophoresis

Question 19

refers to the use of polymerase chain reaction to amplify several different DNA sequences simultaneously (as if performing many separate PCR reactions all together in one reaction).

Answer 19

Multiplexing

Question 20

collection of microscopic DNA spots attached to a solid surface. Scientists use Them to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome.

Answer 20

MicroArray

Question 21

Comparing the structure and expression of each candidate Jean in many diseased and nondiseased individuals pinpoints the causative mutation and thus the disease Jean. Find to closest markers that delineate disease locus. Identify candidate jeans. Compare candidate jeans from two groups of people, Normal and diseased.

Answer 21

Positional cloning

Question 22

Two recessive mutations that fail to complement each other

Answer 22

Compound heterozygote

Question 23

Mutations in different jeans cause the same disease

Answer 23

Locus heterogeneity

Question 24

The collection of all Exons of all jeans

Answer 24

Exome

Question 25

Not just Exome genes but all DNA.

Answer 25

Whole genome sequencing

Question 26

Sls. post transcriptional regulation

Answer 26

Rna. Splicing, localization, stability.

Question 27

SSLM. Post transcriptional regulation

Answer 27

Protein. Synthesis, stability, location, modifications.