the human genome Flashcards
(20 cards)
how big is the human genome?
3.2 Gbp
how big is the mitochondrial genome?
16 kbp
how is mtDNA homoplasmic?
there are 2-10 copies of mtDNA in one mitochondrion
how can mitochondrial DNA be heteroplasmic
due to mutations
how is testing for single gene disorders?
ans: p..
predictive
what percentage of the genome are exons?
1.1%
how many exomes are in the human genome
ans: 2…
25,000
what percentage of live births display chromosomal abnormalities?
ans: 0..
0.1%
what is the recognised percentage of births that terminate due to chromosomal abnormalities?
8%
what is the predicted rate of pregnancy terminations due to chromosomal abnormalities?
50%
what are the 4 types of congenital disorders?
- chromosomal
- mitochondrial
- single gene
- complex
what % of embryos have chromosomal defects?
50%
what proportion of disease has a genetic component?
2/3
what is ENCODE?
a database of functional elements of the genome
describe 2001 genome sequencing?
- sequencing of the whole euchromatic region
- time consuming; must be repeated
describe next generation sequencing
sequencing small fragments (36) of DNA at one time
divided into exome and whole genome sequencing
what is OMIM
a database which identifies single gene disorder mutations
how long does NGS take and how expensive is it?
takes 24 hours
costs $600
name 2 types of chromosomal abnormalities?
aneuploidy
chromosomal translocations
define penetrance
there are few manifestations of one disease, common in single gene disorders
