Genetics - Chapter 15
Approximately what percentage of the human genome encodes proteins?
1
According to data from the Human Genome Project, the number of genes in the human genome is estimated to be between _____.
20,000 and 25,000
Which of the following sequences indicates the promoter region of a gene?
CAAT
________ are variations found in the human genome that have been associated with complex conditions such as intellectual disability.
Copy number variants
One finding of the Human Genome Project was that mutations in _____ can cause mutations in distant regions of the genome, which can result in cancer.
DNA repair genes
Within the Human Genome Project, the program named _______ considers how the project affects individuals and society.
ELSI Ethical, Legal, and Social Implications
A genetic map defines the distance, in base pairs, between linked genes.
False
A new field called proteomics was developed to use computer hardware and software to work with and access large sets of genome sequence data.
False
All of the genes in the human genome have been identified.
False
Bioinformatics is the field that focuses on the use of genomics to design personalized drugs.
False
Data from the Human Genome Project has revealed that we share very little similarity to other organisms such as the chimpanzee and the fruit fly.
False
Polymorphism played a key role in mapping the autosomal recessive gene for the Friedreich ataxia trait.
False
Prebiotics and probiotics have been shown to disrupt our natural microbiome.
False
Since the gene coding portion of HGP was completed, more than 10,000 other species have also been sequenced.
False
The best method for constructing genetic maps in humans is by studying induced mutations.
False
The distances between genes on a genetic map are measured in base pairs.
False
The goal of pharmacogenomics is to identify genes related to human diseases.
False
The microbiome is defined as the DNA present inside mitochondria.
False
The sole purpose of the Human Genome Project was to sequence the DNA in the human genome.
False
Finding linkages between two genes establishing that they are on the same chromosome and measuring how frequently crossing over occurs between them are the two steps of:
Genetic maping
What was the primary goal of the Human Genome Project?
Sequencing the genomes of humans and common lab organisms
What is the goal of the Human Microbiome Project?
To sequence, analyze, and identify the genomes of all microbes living on or in the human body
98.9% of the human genome does not encode proteins and is considered spacer DNA.
True
Annotation is used to analyze and identify all the genes that encode proteins and RNA once a genome sequence has been compiled.
True
Exome sequencing can reveal genetic mutations in the protein coding regions of the genome.
True
Following completion of a genome sequencing project, the sequence must be checked for accuracy and genes must be identified and located.
True
Genes leave identifiable footprints in DNA sequences indicating their locations, including ORFs, promoter regions, and exon/introns splice sites.
True
Genes that are linked are located on the same chromosome.
True
Human genetic maps can be constructed by associating a phenotype with a known genetic marker in multi-generational pedigrees.
True
Humans have more base pairs than mice and hence have a larger genome size, but have fewer numbers of genes.
True
Once a gene is isolated and mapped to a chromosome, protein databases are searched for proteins that are similar to those coded for by the gene.
True
Single nucleotide variations are widespread throughout the human genome, and can therefore be used to construct genetic maps.
True
The Genetics Information Nondiscrimination Act seeks to protect individuals from discrimination based on their genetic information.
True
The advent of recombinant DNA technology made the sequencing of genomes possible.
True
The goal of the HGP was to sequence all the DNA in the human genome rather than to rely on identifying and mapping markers and mutant genes one at a time.
True
The proteome is defined as the collection of all proteins that can be encoded by a genome.
True
When searching protein databases, if no match is found, a partial amino acid sequence can be used that may help identify a similar protein of known function.
True
When studying a genetic disorder, scientists must identify and locate the defective gene and determine the normal function of the protein encoded by this gene.
True
Direct-to-consumer genetic testing is available from several companies.
True
The Ethical, Legal, and Social Issues program seeks to deal with issues related to privacy, fairness, discrimination, and reproductive decisions that emerge due to the availability of genomic information.
True
physical map
a chromosomal diagram indicating the order of the genes and distance between them
genetic map
a chromosomal diagram indicating the order of the genes and distance between them measured in centimorgans and based on recombination frequencies
positional cloning
a gene is cloned by its position in the genome without knowing its function
whole genome sequencing
a method that sequences randomly selected clones from a genomic library, and then uses assembler programs to organize the information into a completed sequence
open reading frame (ORF)
a sequence of nucleotides that contains no termination codons and codes for amino acids in a protein
bioinformatics
advances in computer hardware and software for storing, analyzing, and accessing genome sequence data
To identify and locate genes in a genomic sequence, scientists search for CAAT or CCAAT sequences in a process called ________.
annotation
After completion of a genome sequencing project, the DNA sequences are analyzed to locate and identify genes in a process called _____.
annotation
The field ______ of develops software to efficiently store, analyze, present and access genomic sequence date.
bioinformatics
Comparison of the human genome sequence to that of the fruit fly revealed that we share approximately 60% of our genes with the fruit fly. This analysis is an example of ________.
comparative genomics
The field _______ of investigates similarities and differences in the genomes from different species.
comparative genomics
Proteomics is playing a role in gene function and its changing role in:
development and aging
prebiotics
dietary supplements that encourage the growth and metabolism of bacteria thought to be beneficial to humans
pathogenic
disease causing organism
By measuring how often alleles are separated by crossing over allows geneticists to calculate the:
distance between the genes
The portion of the genome that encodes proteins is called the ._____
exome
DNA sequences comprising open reading frames (ORFs) correspond to the coding regions of genes called ______
exons
If the recombination frequency between genes A and B is 7%, and between genes C and D is 10%, then this indicates ________.
genes C and D are separated by 10cM
map based sequencing
genetic and physical maps are made, followed by sequencing
When determining whether a relative is a proper match for organ or tissue donation, three sets of HLA alleles - inherited together - must match those from the intended recipient. These allele sets are known as _____.
haplotypes
When Louis Kunkel discovered the gene associated with Duchenne's Muscular Dystrophy in the 1980s, he then needed to determine _____.
how the mutant gene produces the disease phenotype
The field of proteomics includes research strategies designed to ________.
identify disease biomarkers
As a result of the Genetics Information Nondiscrimination Act, ________.
individuals cannot be required to submit to a DNA test
Historically, inheritance of _____ was used to study the genome organization, as well as biological processes such as metabolism and development.
induced and spontaneous mutations in lab animals
To identify the function of a protein encoded by a disease-associated gene, ________.
its predicted amino acid sequence is compared to other proteins with known functions
Genes on the same chromosome are said to show ____
linkage
probiotics
living microorganisms that colonize the gut and provide health benefits
comparative genomics
looks at genomes of different species, searching for similarities or differences in genes associated with their evolutionary history
To sequence the rice genome, scientists first constructed physical and genetic maps. This is an example of ________.
map-based sequencing
Positional cloning is used to link the inheritance of a disease in a pedigree to the inheritance of _____.
marker sequences produced by restriction enzymes
The advantage of exome sequencing over whole genome sequencing is that ________.
only 1% of the genome is composed of the exome
According to data revealed by the Human Genome Project, ________.
only about 2% of the genome is composed of protein-coding sequences
In the case of John Moore, whose excised spleen was used by UCLA researchers to establish patented cells lines and ultimately commercially valuable products, the California Supreme Court ruled in 1990 that _____.
patients do not have property rights over cells or tissues removed from the body and used to develop commercial products
A method used to link genetic markers with specific genes on chromosomes is called ______
positional cloning
Scientists discovered the gene responsible for polycystic kidney disease by correlating the phenotype with an unrelated genetic marker in an affected family. This is an example of ________.
positional cloning
_______ has made possible the creation of genetic maps covering most chromosomes and vastly increased the number of mapped genes.
positional cloning
Some individuals take ________ following a course of antibiotics to repopulate the microbiome.
probiotics
The set of all proteins that can be encoded by a genome is the:
proteome
The branch of genetics that identifies and characterizes all the proteins in a cell, tissue, or organ at any particular time is:
proteomics
Genetic maps are constructed by estimating the distances between linked genes based on the calculation of .______
recombination frequencies
The private attempt to sequence the human genome, coordinated by Celera Corporation, used a method called ______ cloning.
shotgun
genome
the complete set of DNA sequences carried by an individual
microbiome
the genome of all the microbial organisms that live on or in the human body
The goals of the Human Genome project were to sequence ________.
the human genome, as well as the genomes of experimental organisms, such as the mouse
Suppose a family is affected by a single genetic disorder and has limited pedigree information. What technique is used to estimate gene linkage?
the lod method
lod scores
the probability that two genes are linked and the probability that they are unlinked taken as a ratio
centimorgan
the unit of distance between genes on a chromosome = the frequency of 1% crossing over between two genes
pharmacogenomics
tries to identify targets for new and existing treatment drugs by analyzing genes and proteins
structural genomics
uses amino acid sequences to generate the three-dimensional structure of the proteins formed from them
linkage
when two or more genes on the same chromosome do not sort independently but have the tendency to be inherited together
The confirmed diagnosis that Baby T had Bartter syndrome was based on the use of ____, which sequenced only the protein coding regions of the genome.
whole exome sequencing
Since the whole genome sequencing method eliminates the need for constructing physical and genetic maps, this method is _____.
faster than the map-based sequencing method
If two genes have a lod score of 1.2, this indicates that they are most likely_____.
on separate chromosomes
Some people are unable to properly metabolize the drug Purinethol, which is given to patients with acute lymphoblastic leukemia; therefore, such patients must be first tested for the associated genetic variant to determine proper dosage of the drug. This scenario best illustrates the use of _____.
pharmacogenomics
A branch of genomics that generates three-dimensional structures from their amino acid sequences is known as _____.
structural genomics
