Results and stats for "Genetics for developmental abnormalities"
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Average score: 60.5
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Related quizzes
Most correctly guessed answers
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Epi: Is the inactivation of an X chromosome in women completely random?
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Mostly, except in certain women who preferentially inactivate one of the two
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100.0%
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Epi: What is an inactivated X chromosome called?
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Barr body
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100.0%
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Epi: What is a Barr body?
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An inactivated X chromosome
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100.0%
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Epi: If a woman has 3 X chromosomes, how many are inactivated (Barr bodies)?
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2
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100.0%
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On which nucleotide is DNA methylated?
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C
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100.0%
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Epi: Which is the DNA dinucleotide which is methylated 60-80% of the time?
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CpG
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100.0%
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De novo methylation of a zygote's genome occurs [...] implantation.
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after
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100.0%
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A frameshift mutation occurs when insertions or deletions occur in multiples other than [...].
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3
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100.0%
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A [...] mutation occurs when insertions or deletions occur in multiples other than 3.
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frameshift
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100.0%
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What are the 2 main types of chromatin?
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Euchromatin
Heterochromatin
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100.0%
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Is mitochondrial DNA passed maternally or paternally?
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Maternally
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100.0%
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[...] is a deviation from the normal euploid chromosomal number.
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Aneuploidy
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100.0%
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What is aneuploidy?
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Deviation from the normal euploid chromosomal number
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100.0%
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What is the law of independent assortment?
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Genes at different loci segregate independently
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100.0%
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In a Hardy-Weinberg equilibrium, what do p and q represent?
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The frequency of the 2 possible alleles
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100.0%
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In a Hardy-Weinberg equilibrium, how are the frequencies of the homozygous dominant and recessive genotypes calculated?
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p^2 and q^2
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100.0%
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In a Hardy-Weinberg equilibrium, how is the frequency of the heterozygous genotype calculated?
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2pq
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100.0%
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Are transition or transversion mutations more common?
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Transitions
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100.0%
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The short arm of a chromosome is also called the [...] arm.
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p
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100.0%
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The long arm of a chromosome is also called the [...] arm.
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q
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100.0%
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Is meiosis more error-prone in males or females?
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Females
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100.0%
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Which phase of meiosis is more error-prone in females?
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Meiosis 1
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100.0%
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Recombination occurs during meiosis [...].
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1
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100.0%
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[...] is the presence of 2 copies of a chromosome.
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Disomy
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100.0%
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[...] is the presence of 3 copies of a chromosome.
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Trisomy
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100.0%
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Trisomy of which 3 chromosomes is non-lethal?
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13, 18, and 21
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100.0%
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An acrocentric chromosome has a very short [...] arm which can be translocated without harm.
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p
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100.0%
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What is an acrocentric chromosome?
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Very short p arm which can be translocated without harm
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100.0%
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A [...] is a non-reciprocal translocation between 2 acrocentric chromosomes that results the the fusion of the 2 long arms and the loss of the 2 short arms.
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Robertsonian translocation
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100.0%
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Random X-inactivation occurs [...] weeks post-fertilization in female foetuses.
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2
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100.0%
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Does heteroplasmy have a beneficial or detrimental effect when it comes to mitochondrial disease?
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Beneficial as some but not all mitochondria will be affected by the mutation
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100.0%
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Does the amount of mutant mitochondrial DNA found in the blood correlate to the amount found in tissue?
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Not necessarily
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100.0%
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Is the severity of a mitochondrial disease correlated to the amount of mutant mitochondrial DNA in the blood or in the tissue?
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Tissue
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100.0%
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A gene is [...] when either the maternal or paternal allele is silenced by methylation.
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imprinted
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100.0%
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Heteroplasmy is the presence of a mixture of more than one type of [...] genome within a cell.
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mitochondrial
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100.0%
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The human mitochondrial genome encodes 2 [...]RNA genes, 22 [...]RNA genes, and 13 [...]RNA genes.
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r, t, m
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100.0%
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Random X-inactivation occurs 2 weeks post-fertilization in [...]ale foetuses.
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fem
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100.0%
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A Robertsonian translocation is a non-reciprocal translocation between 2 [...] chromosomes that results the the fusion of the 2 long arms and the loss of the 2 short arms.
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acrocentric
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100.0%
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An [...] chromosome has a very short p arm which can be translocated without harm.
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acrocentric
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100.0%
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Non-disjunction during m[...]osis [...] results in 2 disomic and 2 nullisomic daughter cells.
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ei, 1
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100.0%
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Non-disjunction during meiosis 1 results in 2 [...]omic and 2 [...]omic daughter cells.
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dis, nullis
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100.0%
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Disjunction, which occurs in [...]phase of m[...]osis [...], is the separation of homologous chromosomes.
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ana, ei, 1
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100.0%
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The [...] arm of a chromosome is also called the q arm.
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long
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100.0%
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The [...] arm of a chromosome is also called the p arm.
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short
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100.0%
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Are Robertsonian translocations a common type of translocation?
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Yes
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100.0%
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Epi: What are the 4 (in)activations to X chromosomes during the development of a female?
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Inactivation of paternal X
Reactivation of paternal X
Random inactivation of one X
In germ line, reactivation of that X for gamete production
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50.0%
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Epi: Which cell type has methylated DNA outside of a CpG island?
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Embryonic stem cell
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50.0%
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Epi: Are CpG islands in the promoter region of a gene methylated?
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No
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50.0%
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The active demethylation of the zygote's genome occurs [...] implantation.
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before
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50.0%
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What is chromosomal translocation?
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Insertion of a segment of DNA from one chromosome into another
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50.0%
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What is chromosomal inversion?
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Reversion of the orientation of a segment of DNA in a chromosome
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50.0%
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What is a karyotype?
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The number and appearance of chromosomes in a eukaryote cell
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50.0%
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The [...] is the structure at the centromere of a chromosome where the mitotic spindle binds.
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kinetochore
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50.0%
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Through which 2 mechanisms can a zygote become aneuploid?
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More than one spermatozoon fuses with the oocyte
The oocyte fails to complete its 2nd meiotic division and eject the 2nd polar body
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50.0%
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[...] occurs when there are several different mutations in the same gene.
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Compound heterozygosity
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50.0%
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What are the 2 laws of Mendelian genetics?
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Law of segregation and law of independent assortment
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50.0%
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The [...] of a mutation refers to the proportion of individuals who show phenotypic signs of having that mutation.
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penetrance
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50.0%
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[...] occurs when a parent carries a small proportion of germline cells which harbour a de novo mutation.
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Germline mosaicism
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50.0%
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[...] describes how DNA regions located in close proximity are more likely to be co-inherited than DNA regions originating from further apart.
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Genetic linkage
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50.0%
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A [...] is a mutation where genetic material is inserted that is identical to an adjacent sequence.
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tandem insertion
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50.0%
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There are approximately [...] genes in the human genome.
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30000
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50.0%
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[...], which occurs in anaphase of meiosis 1, is the separation of homologous chromosomes.
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Disjunction
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50.0%
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[...] during meiosis 1 results in 2 disomic and 2 nullisomic daughter cells.
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Non-disjunction
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50.0%
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[...] describes a delayed movement during anaphase of mitosis/meiosis where one chromatid/chromosome fails to connect to the spindle and is lost from the dividing cells.
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Anaphase lag
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50.0%
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People with a Robertsonian translocation have [...] chromosomes.
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45
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50.0%
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A [...] is the exchange of material between 2 non-homologous chromosomes.
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reciprocal translocation
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50.0%
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A de novo reciprocal chromosomal translocation has a [...]% risk of causing developmental problems.
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5
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50.0%
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The human mitochondrial genome encodes [...] rRNA genes, [...] tRNA genes, and [...] mRNA genes.
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2, 22, 13
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50.0%
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Which type of tissue is most affected by a mutation in a mitochondrial gene?
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Tissue with high energy demands
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50.0%
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[...] is the presence of a mixture of more than one type of mitochondrial genome within a cell.
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Heteroplasmy
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50.0%
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What is heteroplasmy?
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The presence of a mixture of more than one type of mitochondrial genome within a cell
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50.0%
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A gene is imprinted when either the maternal or paternal allele is silenced by [...].
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methylation
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50.0%
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How many genes in the human genome are known to be imprinted?
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~150
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50.0%
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A [...] is a growing mass of tissue which is the product of abnormal conception, most often produced when a sperm fertilizes an ovum which does not contain any genetic material.
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hydatidiform mole
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50.0%
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A [...] occurs when a person receives 2 copies of a chromosome from one parent and no copies from the other.
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uniparental disomy
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50.0%
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A Robertsonian translocation is a non-reciprocal translocation between 2 acrocentric chromosomes that results the the fusion of the 2 [...] arms and the loss of the 2 [...] arms.
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long, short
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50.0%
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What is the law of segregation?
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Each individual has 2 alleles and only one is transmitted to each offspring
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0.0%
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The [...] is the statistical test used to detect the presence of genetical linkage.
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LOD score
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0.0%
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An LOD score of [...] is consistent with genetic linkage wherease a score [...] excludes linkage.
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>3, <-2
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0.0%
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There are approximately [...] base pairs in the human genome.
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3 billion
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0.0%
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[...]% of spontaneous abortion products have chromosomal abnormalities.
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50
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0.0%
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What are the 5 acrocentric chromosomes?
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13, 14, 15, 21, and 22
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0.0%
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The most common Robertsonian translocations are fusion of chromosomes [...] and [...] or [...] and [...].
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13, 14, 14, 21
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0.0%
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What is a Robertsonian translocation?
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A non-reciprocal translocation between 2 acrocentric chromosomes that results the the fusion of the 2 long arms and the loss of the 2 short arms
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0.0%
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There are [...] genes in the human mitochondrial genome.
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37
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0.0%
