Molecular Genetics and Applied Neuroscience Flashcards
(175 cards)
What are the phases of the cell cycle?
G1 - growth phase 1 S - synthetic phase G2 - growth phase 2 M- mitosis phase Cells in the quiescent G0 phase of the cycle are stimulated by growth factors (e.g. EGF, PDGF, IGF) and result in activation of transcription factors, leading to the initiation of DNA synthesis, followed by mitosis and cell division
During which phase of the cell cycle are the 46 chromosomes duplicated into chromatids?
S
What is interphase?
G0 G1 S and G2 (all phases apart from mitosis)
period when the cell material is replicated and prepares for division
What are the stages of mitosis?
Prophase - condensation of chromatid to form chromosomes, breakdown of the nuclear envelope and formation of spindles at opposite ends of the cell (poles)
Metaphase - alignment of chromosomes at the metaphase plate (equatorial)
Anaphase - Separation of paired chromosomes followed by migration to opposite ends of the cells
Telophase - Chromosomes are packed into distinct new nuclei. Cytokinesis (division of cytoplasm begins)
What are the phases of meoisis?
Meiosis I - reduction division. Crossing over occurs in prophase and there is non separation of chromatids in anaphase
Meiosis II - same as normal mitosis
How many daughter cells are produced at the end of meiosis?
4 (with half of the number of chromosomes)
How many chromosomes are in human cells
46 (diploid) - 23 inherited from each parent
22 pairs of autosome and 2 sex chromosomes
Which cells are haploid cells?
Gametes
What is the centromere?
What’s a metacentric chromosome?
constriction in the chromosome that divides it into long arm (p) and short arm (q)
Metacentric chromosome has the centromere right in the middle - so the p and q arms are of equal length
What is aneuploidy?
What causes aneuploidy?
When cells contain a different number of chromosomes
-non disjunction (failure of chromatids to separate)
What is mocaicism?
When non disjunction occurs during mitosis after the gametes have fused - this leads to the formation of two cell lineages, each with different genetic makeup
What is Down syndrome? Incidence? Findings in pregnancy? Clinical presentation? Complications after childhood? Methods of causation?
Trisomy 21
1:700
Reduced maternal levels of alpha fetoprotein, increased beta HCG and increased nuchal fold thickness on foetal ultrasound
LD, simian crease, prominent epicanthic fold, duodenal atresia, hypothyroidism, flat facial profile, heart disease (ASD).
Alzheimer’s and leukemia
95% meiotic non disjunction (rate 1:1500 in women <20 but 1:25 in women >40)
4% Robertsonian translocation
1% mosaicism
What is Edward syndrome? Incidence? M:F? Clinical presentation? Life expectancy?
Trisomy 18
1: 8000
3: 1
Severe LD, rocker bottom feet, low set ears, small jaw, congenital heart disease, congenital kidney problems
Children don’t usually survive after the first year of life
What is Patau syndrome?
Incidence?
Clinical presentation?
Trisomy 13
1:6000
Severe LD, microphthalmia, microcephaly, cleft lip/palate, coloboma eye, polydactyly, congenital heart disease
What is metafemale/superwoman syndrome?
XXX
What is Turner syndrome?
Incidence?
Clinical presentation?
XO
1:2000 female
Low hairline, broad chest, short stature, webbed neck
In 80% of cases the origin of the aneuploidy is paternal X chromosome so the X chromosome present is maternal
What is the parental origin of meiotic error leading to aneuploidy in:
- Patau syndrome
- Edward syndrome
- Down syndrome
- Turner syndrome
- Klinefelter syndrome
- 85% maternal
- 90% maternal
- 95% maternal
- 20% maternal
- 55% maternal
What is a nucleotide?
Nucleotides are phosphorylated versions of nucleosides.
Each nucleoside consists of two components: a nitrogenous base and a pentose sugar
What are the components of DNA?
Each strand of DNA is made up of a deoxyribose phosphate backbone and a series of purine (adenine (A) and guanine (G)) and pyrimidine (thymine (T) and cytosine (C)) bases of the nucleic acid.
PUGA/PYCT
What are the possible combinations of nucleotides?
TA
AT
GC
CG
What’s a codon?
What are exons?
What are introns?
A set of three adjacent nucleotides
each codon codes for a specific amino acid
64 possible codon combos make up genetic code
the polypeptide coding sequences in DNA are call exons
the non coding sequences are introns. there are three types: satellite, mini and microsatellite
What’s a gene?
sub portion of DNA
codes for a polypeptide sequence
How many amino acids are there?
20 (10 are essential and cant be got from food)
What is replication?
production of new DNA copies from template