exp. 4 quizzes Flashcards
Which of the following mutations can be detrimental to the function of a protein?
silent mutation
missense mutation
nonsense mutation
frameshift mutation
missense mutation
nonsense mutation
frameshift mutation
The “1000 genome project” was able to detect that a typical person’s genomic DNA sequence differs from others by about 1 in 1000 nucleotides. true or false
true
Single Nucleotide Polymorphisms (SNPs) refer to differences in a genome sequence which have been definitively linked to a disease or disorder. true or false
false, it is not definitive
Which of the following is true about Genome Wide Association studies (GWAS)? (More than one answer may be correct so choose all that apply)
Group of answer choices
They use microarrays containing known SNPs.
The study will detect whether a particular SNP is associated with a disease or trait of interest.
Most SNPs analyzed in GWAS Studies have a high predictive value, meaning they are strongly associated with risk for a given disease.
They use microarrays containing known SNPs.
The study will detect whether a particular SNP is associated with a disease or trait of interest.
Newborn screening tests are done on the fetus before birth to determine if the fetus has a genetic disorder.
Group of answer choices
True
False
false
Comparative Genome Hybridization compares a patient’s DNA to a reference genome to detect if there any abnormalities in their DNA using fluorescence.
true
The 23andMe article written by Dorothy Pomerantz states that she was identified with a BRCA gene mutation which could lead to breast cancer. If another woman took this 23andMe test and it reported that she didn’t have the BRCA variants they tested for, then she would not have to worry about the possibility of contracting breast cancer since all the variants are tested for.
false
After reading over the genetic counselor case study, the hearing loss that Tanya is experiencing is clearly due to a deletion that has occurred in chromosome 22.
true
The chromosomes within a cell are already organized into a karyotypes so all the researcher has to do is to take an image of cell that has been DNA stained
false
Amniocentesis has the advantage that it can be performed earlier than chorionic villus sampling to perform karyotyping of a fetus.
false
Trisomy 21 (Down Syndrome) is due to:
aneuploidy
A nondisjunction event that occurs during Meiosis division 1 (M1) causes all 4 resulting gametes to be abnormal with respect to chromosome number.
Group of answer choices
True
False
true
If all of the DNA for an individual is duplicated such that they have 4 copies of each chromosome, then this is considered an aneuploidy.
false
If the DNA from one chromosome moves to another, then this type of structural mutation is called a:
translocatio
