Ch. 12 Analyzing Genomic Variation

When knowing the mutation that causes a disease does not help in the treatment of the disease, the outcome is not ___________.

Blank 1: actionable

Genes whose mutant alleles cause a disease phenotype are called ___________ genes.

Blank 1: disease, diseased, or diseases

In the bioinformatics analysis that identified mutations in the XIAP gene as being responsible for Nic Volker's symptoms, a filter for conserved sequences looked to see if Nic's genome contained changes in sequences that are the same in many diverse species.

Blank 1: evolutionarily or tightly

Prenatal ________ _________ involves genotyping fetal cells by methods such as PCR.

Blank 1: genetic, genetics, or genetic diagnosis Blank 2: diagnosis

A genetic disease that can be caused by a variety of different mutations in the same gene displays allelic __________.

Blank 1: heterogeneity, heterogenity, or heterogenicity

The ability to sequence many DNA fragments simultaneously is called ____________-__________ sequencing.

Blank 1: high, massively, or highly Blank 2: throughput or parallel

DNA ______________ serve as signposts in the genome.

Blank 1: markers or marker

Simple sequence repeats (SSRs), which are one to a few bases repeated in tandem within the genome, are also called ___________.

Blank 1: microsatellites or microsatellite

Disease genes are genes whose ___________ alleles cause a disease phenotype.

Blank 1: mutant or mutants

Genetic variants that affect phenotypes through changes in protein function are called ___________ DNA polymorphisms.

Blank 1: nonanonymous

The ability of complementary single strands of DNA or RNA to come together to form double-stranded molecules is called __________ acid ____________.

Blank 1: nucleic Blank 2: hybridization

Single_______ _________ are particular base positions in the genome where alternative nucleotides distinguish some people from others.

Blank 1: nucleotide or nucleotides Blank 2: polymorphisms, polymorphism, or polymorphs

Differences in DNA sequences among individuals are called DNA _______________.

Blank 1: polymorphisms, polymorphism, or polymorphs

Genetic variations involving short insertions or deletions of genetic material are referred to as deletion-insertion _______________

Blank 1: polymorphisms, polymorphism, or polymorphs

The strategy in which the location of a gene associated with a hereditary disease is identified by finding polymorphic loci to which the mutation is genetically linked is called ____________ cloning.

Blank 1: positional, positional cloning, positioning, or position

Short oligonucleotides that flank the region of DNA to be amplified by PCR are called

Blank 1: primers or primer

A Lod score is calculated from the _____________ of the probability of obtaining a particular set of results in a ____________ if two loci are linked to the probability of observing the same results if the loci are unlinked.

Blank 1: ratio Blank 2: pedigree

Select the disease that best exemplifies allelic heterogeneity. Multiple choice question. High blood pressure Cystic fibrosis Sickle-cell disease Deafness

Cystic fibrosis

What type of genetic variation involves short insertions or deletions of genetic material? Multiple choice question. CNVs SSRs DIPs SNPs

DIPs

Even if a polymorphism has no effect on phenotype, it may still be useful as a _____. Multiple choice question. novel gene mutation DNA marker

DNA marker

In prenatal genetic diagnosis what type of cells are genotyped? Multiple choice question. Fetal cells Cells from a newborn Cells from the parents Germ cells

Fetal cells

Select all that apply Select filters that were used in the the bioinformatics analysis that identified mutations in the XIAP gene as being responsible for Nic Volker's symptoms. Filters for recessive inheritance Filters to exclude SNPs Filters to exclude silent mutations Filters for novel variants

Filters for recessive inheritance Filters to exclude silent mutations Filters for novel variants

What is the goal of positional cloning? Multiple choice question. Identify genetic mutations that are associated with hereditary diseases. Determine mutation frequency relative to other genes or molecular markers. Production of clones that are genetically superior.

Identify genetic mutations that are associated with hereditary diseases.

How might a non-actionable outcome of whole genome sequencing to identify a disease gene still provide useful information? Multiple select question. It may provide information that helps identify a future treatment for the disease. It will provide information for immediate treatment of the disease. It may help patients to guide their reproductive decisions.

It may provide information that helps identify a future treatment for the disease. It may help patients to guide their reproductive decisions.

How is the relative frequency of DIPs related to their length (if at all)? Multiple choice question. There does not appear to be a pattern that relates the length of DIPs to their frequency in the genome. Shorter DIPs are much less frequent than longer DIPs. Longer DIPs are much less frequent than shorter DIPs.

Longer DIPs are much less frequent than shorter DIPs.

Select the types of variants that are likely to be nonanonymous polymorphisms. Multiple select question. Nonsense mutation Silent mutations Frameshift mutation Missense mutations

Nonsense mutation Frameshift mutation Missense mutations

A genetic variant involving the change of a single base is called a(n) _____. Multiple choice question. SNP CNV DIP SSR

SNP

What genetic variation involves sequences of one to a few bases that are repeated in tandem less than 10 to more than 100 times at specific locations in the genome? Multiple choice question. SSRs CNVs DIPs SNPs

SSRs

Which of the following is a common technique used to genotype SNPs? Multiple choice question. Radioactive labeling of PCR products Sequencing of PCR products Separation of PCR products based on their size using gel electrophoresis

Sequencing of PCR products

What is high-throughput sequencing? Multiple choice question. The simultaneous sequencing and expression of multiple DNA samples The ability to sequence many DNA fragments simultaneously The sequencing of both strands of a DNA fragment at the same time

The ability to sequence many DNA fragments simultaneously

To genotype a human, a PCR is performed in which 13 unlinked, polymorphic SSR loci are amplified at the same time. How are the different fragments produced by the PCR separated? Multiple choice question. They are directly sequenced using high-throughput sequencing techniques. They are separated using gel electrophoresis and identified based on their fluorescence and their sizes. They are used to create an SSR library in E. coli and the inserts are sequenced using Sanger sequencing.

They are separated using gel electrophoresis and identified based on their fluorescence and their sizes.

Select all that apply Select the molecules that can undergo nucleic acid hybridization. Two complementary single-stranded RNAs Two complementary single-stranded DNAs A double-stranded DNA and a complementary single-stranded RNA A single-stranded DNA and a complementary single-stranded RNA A single-stranded RNA and the protein it encodes Two identical double-stranded RNAs

Two complementary single-stranded RNAs Two complementary single-stranded DNAs A single-stranded DNA and a complementary single-stranded RNA

This figure shows the genotyping of patients for sickle-cell disease using the technique of sequencing PCR products amplified from genomic DNA. The middle panel is DNA from an individual who is _______. Multiple choice question. homozygous wild type homozygous for the sickle-cell mutation a heterozygous carrier of the sickle-cell mutation

a heterozygous carrier of the sickle-cell mutation

The exome contains ______. Multiple choice question. all exons and introns of all genes all exons of all genes all introns of all genes

all exons of all genes

When using PCR to amplify DNA, short oligonucleotides called primers _____. Multiple choice question. are complementary to the 3' end of the mRNA are made of ribonucleotides define the ends of the target region of DNA anneal to random sequences in the target DNA

define the ends of the target region of DNA

When using PCR to amplify DNA, short oligonucleotides called primers _____. Multiple choice question. are made of ribonucleotides anneal to random sequences in the target DNA define the ends of the target region of DNA are complementary to the 3' end of the mRNA

define the ends of the target region of DNA

DNA polymorphisms are _______. Multiple choice question. differences in noncoding DNA sequences only differences in any DNA sequences between individuals differences in coding DNA sequences only

differences in any DNA sequences between individuals

DNA profiling is performed by PCR-amplifying 13 different SSR loci using 13 pairs of PCR primers. Each primer pair is tagged with a different _______. Multiple choice question. fluorescent dye dideoxynucleotide radioactive element

fluorescent dye

DNA profiling is performed by PCR-amplifying 13 different SSR loci using 13 pairs of PCR primers. Each primer pair is tagged with a different _______. Multiple choice question. radioactive element fluorescent dye dideoxynucleotide

fluorescent dye

A Lod score is used in human genetics rather than a χ2 statistic because _______. Multiple choice question. the Lod score better handles the small number of data points while allowing the data obtained from many different pedigrees to be combined the Lod score better handles the large number of data points while allowing the data obtained from a few different pedigrees to be combined a χ2 statistic cannot be used to determine if a disease gene and a DNA marker are genetically linked

the Lod score better handles the small number of data points while allowing the data obtained from many different pedigrees to be combined

The ratio of the probabilities of obtaining a particular set of results in a pedigree if the two loci are linked to the chance of observing the same results if the loci are unliked is called _______. Multiple choice question. the Lod score statistic positional cloning the χ2 statistic

the Lod score statistic