Genetics Flashcards
(14 cards)
What is karyotyping?
Approach used to detect gross karyotypic abnormalities, such as presence of extra chromosome i.e. Down syndrome
FISH
Looking for altered bits of chromosome; relies on hybridization of labeled DNA probes; can detect microdeletions
Microarrays
Looking for small bits of altered chromosomes genome-wide
Sanger sequencing
Identify exact sequence change at selected loci
Next generation/ massively parallel sequencing
Shotgun (random) sequencing of biollions of small fragments of target DNA, cost of $2000
Exome or Genome sequencing
Exome is fraction of genome sequencing, it is thought that nearly 85% of Mendelin mutations lie within.
What stages does the cell cycle comprise?
Two gap phases (G1 and G2); an S (for synthesis) in which genetic material is duplicated; and a Mitosis phase
What are the phases of mitosis?
Prophase, prometaphase, metaphase, anaphase, telophase, cytokinesis
What are the phases of meiosis?
First meiotic division; genetic recombination; second meiotic division
Mosaicism
Two or more cell lines have a different genetic or chromosomal complement in an individual resulting from one fertilization event
Normal human karyotype?
46 XX women
46 XY men
What is primary ciliary dyskinesia?
Impaired function of the cilia; autosomal recessive inheritance; often caused by dynein arm defects; caused respiratory infections, bronchiectasis, infertility
Surfactant deficiency
Genetic defect! Surfactant essential to preventing collapse of alveolar, produced starting in week 24 of fetal development
Why is it important to know genetic history?
- specific treatment
- specific follow-up
- referrals
- guidelines for follow up may be available
- family management
