Genetics for developmental abnormalities
-
-
- Question
- Answer
-
- Epi: What is an inactivated X chromosome called?
-
- Epi: What is a Barr body?
-
- Epi: Is the inactivation of an X chromosome in women completely random?
-
- Epi: If a woman has 3 X chromosomes, how many are inactivated (Barr bodies)?
-
- Epi: What are the 4 (in)activations to X chromosomes during the development of a female?
-
- On which nucleotide is DNA methylated?
-
- Epi: Which is the DNA dinucleotide which is methylated 60-80% of the time?
-
- Epi: Which cell type has methylated DNA outside of a CpG island?
-
- Epi: Are CpG islands in the promoter region of a gene methylated?
-
- The active demethylation of the zygote's genome occurs [...] implantation.
-
- De novo methylation of a zygote's genome occurs [...] implantation.
-
- A frameshift mutation occurs when insertions or deletions occur in multiples other than [...].
-
- A [...] mutation occurs when insertions or deletions occur in multiples other than 3.
-
- What is chromosomal translocation?
-
- What is chromosomal inversion?
-
- What are the 2 main types of chromatin?
-
- Is mitochondrial DNA passed maternally or paternally?
-
- What is a karyotype?
-
- The [...] is the structure at the centromere of a chromosome where the mitotic spindle binds.
-
- Through which 2 mechanisms can a zygote become aneuploid?
-
- [...] is a deviation from the normal euploid chromosomal number.
-
- What is aneuploidy?
-
- [...] occurs when there are several different mutations in the same gene.
-
- What are the 2 laws of Mendelian genetics?
-
- What is the law of segregation?
-
- What is the law of independent assortment?
-
- The [...] of a mutation refers to the proportion of individuals who show phenotypic signs of having that mutation.
-
- [...] occurs when a parent carries a small proportion of germline cells which harbour a de novo mutation.
-
- In a Hardy-Weinberg equilibrium, what do p and q represent?
-
- In a Hardy-Weinberg equilibrium, how are the frequencies of the homozygous dominant and recessive genotypes calculated?
-
- In a Hardy-Weinberg equilibrium, how is the frequency of the heterozygous genotype calculated?
-
- [...] describes how DNA regions located in close proximity are more likely to be co-inherited than DNA regions originating from further apart.
-
- The [...] is the statistical test used to detect the presence of genetical linkage.
-
- An LOD score of [...] is consistent with genetic linkage wherease a score [...] excludes linkage.
-
- Are transition or transversion mutations more common?
-
- A [...] is a mutation where genetic material is inserted that is identical to an adjacent sequence.
-
- There are approximately [...] base pairs in the human genome.
-
- There are approximately [...] genes in the human genome.
-
- The short arm of a chromosome is also called the [...] arm.
-
- The long arm of a chromosome is also called the [...] arm.
-
- [...]% of spontaneous abortion products have chromosomal abnormalities.
-
- Is meiosis more error-prone in males or females?
-
- Which phase of meiosis is more error-prone in females?
-
- Recombination occurs during meiosis [...].
-
- [...], which occurs in anaphase of meiosis 1, is the separation of homologous chromosomes.
-
- [...] during meiosis 1 results in 2 disomic and 2 nullisomic daughter cells.
-
- [...] 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.
-
- [...] is the presence of 2 copies of a chromosome.
-
- [...] is the presence of 3 copies of a chromosome.
-
- Trisomy of which 3 chromosomes is non-lethal?
-
- An acrocentric chromosome has a very short [...] arm which can be translocated without harm.
-
- What is an acrocentric chromosome?
-
- What are the 5 acrocentric chromosomes?
-
- The most common Robertsonian translocations are fusion of chromosomes [...] and [...] or [...] and [...].
-
- People with a Robertsonian translocation have [...] chromosomes.
-
- What is a Robertsonian translocation?
-
- 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.
-
- Random X-inactivation occurs [...] weeks post-fertilization in female foetuses.
-
- A [...] is the exchange of material between 2 non-homologous chromosomes.
-
- A de novo reciprocal chromosomal translocation has a [...]% risk of causing developmental problems.
-
- There are [...] genes in the human mitochondrial genome.
-
- The human mitochondrial genome encodes [...] rRNA genes, [...] tRNA genes, and [...] mRNA genes.
-
- Which type of tissue is most affected by a mutation in a mitochondrial gene?
-
- [...] is the presence of a mixture of more than one type of mitochondrial genome within a cell.
-
- What is heteroplasmy?
-
- Does heteroplasmy have a beneficial or detrimental effect when it comes to mitochondrial disease?
-
- Does the amount of mutant mitochondrial DNA found in the blood correlate to the amount found in tissue?
-
- Is the severity of a mitochondrial disease correlated to the amount of mutant mitochondrial DNA in the blood or in the tissue?
-
- A gene is imprinted when either the maternal or paternal allele is silenced by [...].
-
- How many genes in the human genome are known to be imprinted?
-
- 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.
-
- A [...] occurs when a person receives 2 copies of a chromosome from one parent and no copies from the other.
-
- A gene is [...] when either the maternal or paternal allele is silenced by methylation.
-
- Heteroplasmy is the presence of a mixture of more than one type of [...] genome within a cell.
-
- The human mitochondrial genome encodes 2 [...]RNA genes, 22 [...]RNA genes, and 13 [...]RNA genes.
-
- Random X-inactivation occurs 2 weeks post-fertilization in [...]ale foetuses.
-
- 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.
-
- 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.
-
- An [...] chromosome has a very short p arm which can be translocated without harm.
-
- Non-disjunction during m[...]osis [...] results in 2 disomic and 2 nullisomic daughter cells.
-
- Non-disjunction during meiosis 1 results in 2 [...]omic and 2 [...]omic daughter cells.
-
- Disjunction, which occurs in [...]phase of m[...]osis [...], is the separation of homologous chromosomes.
-
- The [...] arm of a chromosome is also called the q arm.
-
- The [...] arm of a chromosome is also called the p arm.
-
- Are Robertsonian translocations a common type of translocation?
-
