Exam III Review Analyzing Genetic Variation Chapter 10 Flashcards Preview

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

Anonymous DNA polymorphisms/DNA markers


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

Single nucleotide polymorphism


Sequence differences often located either between jeans or in Introns

DNA polymorphisms


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

Deletion – insertion polymorphisms (dips)


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.

Simple sequence repeats SSrs


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.

Copy number variants


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

Polymerase chain reaction


Fetal cells and amnionic fluid are extracted using a needle



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.

Pre-implantation embryo diagnosis


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.



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.

DNA MicroArrays genotype millions of snps.


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

Allele specific oligonucleotides


An allele present long before the human species took form

Ancestral allele


Changed nucleotide

Derived allele


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.

New techniques sequence millions of individual DNA molecules in parallel


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.



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.

Lod score


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

Gel electrophoresis


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).



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.



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.

Positional cloning


Two recessive mutations that fail to complement each other

Compound heterozygote


Mutations in different jeans cause the same disease

Locus heterogeneity


The collection of all Exons of all jeans



Not just Exome genes but all DNA.

Whole genome sequencing


Sls. post transcriptional regulation

Rna. Splicing, localization, stability.


SSLM. Post transcriptional regulation

Protein. Synthesis, stability, location, modifications.