Ch. 1 - What is in a Human Genome? Flashcards
_____ is the study of inherited traits and their variation.
Genetics
_____ is the comparison and analysis of genomes.
Genomics
_____ addresses moral issues and controversies that arise in genetics and medicine.
Bioethics
_____ are the basic units of life.
Cells
_____ is the process that causes changes in DNA sequence that distinguish alleles.
Mutation
The entire sequence of an organism’s genetic material is its _____.
Genome
A _____ is a set of biochemical instructions that tell a cell how to manufacture a protein (or RNA molecule).
Gene
Human DNA sequences are grouped among structures called _____.
Chromosomes
A variant form of a gene is called a(n) _____.
Allele
The term _____ Correct refers to the underlying instructions for a trait, and the term _____ refers to the visible trait.
Genotype; phenotype
The protein-encoding DNA sequences of the human genome are called the _____ and make up about 1 percent of the human genome.
Exome
The 22 pairs of chromosomes that do not differ between the sexes are called _____.
Autosomes
The X and Y chromosomes are known as ______.
Sex chromosomes
Charts called _____ are used to display the chromosome pairs from largest to smallest.
Karyotypes
In humans, a female has two _____.
X chromosomes
A _____ trait is a trait that is influenced by both genes and the environment.
Complex
An inherited trait that is influenced by only one gene is called a _____ trait.
Mendelian
Assuming this piece of DNA was transcribed and translated from start to finish, how many amino acids would it encode: ATGCCACGGAAACCCGGC?
6
A type of muscular dystrophy called Emery-Dreifuss muscular dystrophy can occur when the nesprin-2 protein contains the amino acid methionine at a certain location instead of the amino acid threonine. Why does this change in amino acid placement likely occur?
There was a mutation in the gene for nesprin-2.
What is the term that describes the DNA sequences for protein-encoding genes?
Exome
Patients with certain types of leukemia are screened for which alleles of the TPMT gene they have prior to receiving thiopurine drugs. Patients with certain alleles need far less of these drugs than other patients, and in fact can become sick if given the standard dose. This is an example of
Pharmacogenetics
A ecology graduate student takes samples of the water in various parts of a swamp area. She sequences the genomes of all of the organisms present in this environment. This is an example of
Metagenomics
Which biochemical unit encodes a single protein?
Gene
Changes in allele frequencies in populations is the basis of
Evolution
When is exome sequencing typically used?
After more conventional tests do not explain a person’s symptoms
Metagenomics is
A field that sequences all of the DNA in a habitat
Given that complementary DNA strands are organized with opposite orientations, which DNA sequence is complementary (and therefore would bind) to the strand of DNA: 5’-ATATGGCCAT-3’
3’-TATACCGGTA-5’
A child develops a genetic disease which affects neither of his parents. The allele causing this disease is most likely
Recessive
The identification of probable drug reactions based on genetics is an example of _____.
Pharmacogenomics
_____ compares DNA sequences to establish or rule out identity.
DNA profiling
The many microbes that live on and in the human body make up the _____.
Microbiome
The field that analyzes all of the DNA in a particular habitat is _____.
Metagenomics
The CRISPR-Cas9 system is a tool to perform _____.
Genome editing
A technique, such as that carried out by the CRISPR-Cas9 system, that is used to add, remove, or replace specific genes to the DNA of any organism is called _____.
Genome editing
The field of _____ can be used to identify components of the human microbiome, which includes all the bacteria living on and in the human body.
Metagenomics
To identify rare diseases, _____, which determines the order of bases of the parts of the DNA that encodes proteins, can be used.
Exome sequencing
Traditional animal breeding is not considered _____ because traditional breeding selects for traits within one species.
Genetic modification
The field of _____ addresses concerns arising from the use of new genetic technologies, including tests, treatments, privacy, and discrimination.
Bioethics
Genetics is the study of _____.
Inherited traits
One way to study the human genome is to _____.
Determine the DNA sequence
Humans have _____ pairs of chromosomes.
23
Polydactyly is considered a Mendelian trait because
_____.
It is caused by a single gene
Sickle-cell anemia results from a beta-globin protein containing the amino acid valine in the place of the amino acid glutamic acid. This is an example of a _____ causing a disease.
Mutation
In which choice are the entries listed from smallest to largest?
DNA building block - gene - chromosome - genome
Shawn’s mother and Heather’s mother are sisters. Shawn and Heather have _____ of their genes in common.
1/8
What type of disease would not be identified by exome sequencing?
A disorder that is caused by a mutation in a non-coding region of DNA found far away from the gene it affects
A genotype refers to _____.
The alleles present in an individual
What type of genetic information is represented by the following sequence?
5’-AUCCAGGCAUGG-3’
RNA
Some human disorders are caused by the presence of an entire extra chromosome. In these cases, instead of having 2 of a certain chromosome in each cell, the individual may have 3 of that chromosome in each cell. What genetic test would be most useful in determining if an individual has extra copies of a chromosome?
Karyotyping
Cells differentiate by _____.
Expressing different subsets of genes
DNA profiling has been used to _____.
Identify victims of terrorist attacks and natural disasters
A piece of fabric left at a crime scene has hairs on it. What technique would best be used on these hairs to implicate an apprehended suspect?
DNA profiling
DNA profiling is helpful in _____.
Analyzing food
The CRISPR-Cas9 system is a tool to perform _____.
Genome editing
How do researchers in the metagenomics sector operate?
They collect and sequence DNA, then consult databases of known genomes to imagine what the organisms to which the DNA belongs might be like.
Sequencing all the DNA in the fluid that leaks from the bottom of a garbage can is an example of _____.
Metagenomics
