A mutation that is inherited from parents and are presen throughout a person lifetime in virtually every cell in the body is known as
A. Acquired mutation
B. Germline mutation
C. Hereditary mutation
D. Somatic mutation
B &C
interchangeable terms
when do most aneuploidies occur for women?
A) Metaphase II
B) Telophase I
C) Meiosis I
D) Meiosis II
C) Meiosis I
Which is not a viable trisomy
A) Trisomy 21 (Down syndrome)
B) Trisomy 18 (Edwards syndrome)
C) Trisomy 16
D) 47,XXY
C) Trisomy 16
Do we see higher or less frequent rates of maternal age effects in respect to paternal age effects
less frequent than paternal
what type of mutation/abnormalities occur with maternal age?
A. chromosomal abnormalities
B. Point mutations
C. De novo mutations
D. None of the above
C. De novo mutations
What is the main difference between the maternal age effect and paternal age effect
maternal age effect is not due to genome replication like in paternal
How does the genome replication hypothesis connect with paternal age effect
a large number of cell division causes unprecise genome copying which happens with continuous sperm production in males
mutation in which sperm divide improperly and have two stem cells instead of one which results in a build up of this mutation is termed
A. Genome multiplication disorder
B. Selfish generation
C. Stress induced spermatogenesis
B. Selfish generation
What are minisatellites and what are they used for
highly unstable, large noncoding, genetic elements
use to demonstrate environmental factors affect germline mutation rates (e.g. smoking)
have higher mutation rates than other areas of DNA
In what stage is sperm most sensitive to BaP
during division
How does BaP affect fetuses (maternal)
affects sperm development and function
affects ovaries/oogenesis
impact on health and disease for multiple generations
describe the difference between genetic imprinting and regular gene expression
usually both alleles from parents active
in imprinting only one parents gene is being expressed
how does genetic imprinting occur?
epigenetic contrast; differently methylated region (DMR). Two types
germline- methylation during gametogenesis
Somatic- methylation after fertilization
In what organ is it most common to find imprinted genes
A) Heart
B) Liver
C) Kidney
D) Brain
D) Brain
Loss of paternally expressed gene
A) Prader-Willi
B) Patau
C) Angelman
D) Schizophrenia
A) Prader-Willi
-Hyperphagia (insatiable hunger)
-short stature, small hands/feet
- Stubbornness, obsessive traits
Loss of maternally expressed gene
A) Prader-Willi
B) Patau
C) Angelman
D) Schizophrenia
C) Angelman
-Minimal speech, severe developmental delay
- Ataxia
- Frequent smiling
- Sleep disturbances
In regulation of X-chromosome what is the main difference between males and females
X- chromosome upregulates for males
X- chromosome inactivates for females
which chromosome is this:
Xist transcripts spread cis from their site of synthesis to coat entire x chromosome. Tsix is silenced
a) active chromosome
b) inactive chromosome
b) inactive chromosome
