Results and stats for "Genetics for developmental abnormalities"

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Most correctly guessed answers

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