By the numbers Flashcards
Imprinted genes in the human genome (percentage)
10%
How large is the haploid human genome sequence?
3x10^9 base pairs
How many mutations occur in each individual?
approximately 30
How many SNPs are there between any two individuals?
1 in every 1000 bp = 3,000,000 but we are 99.9% identical
What percentage of the genome is GC rich vs AT rich
38% GC, 54% AT. This is the basis for G-Banding
What percentage of the human genome is translated?
~1.5%
What percentage of the euchromatic human genome is made up of genes?
~20-25%
What percentage of the euchromatic human genome is made up of single copy sequences?
~50%
What percentage of the euchromatic human genome is made up of repetitive DNA (repeated hundreds to millions of times)?
~40-50%
What percentage of the human genome is derived from segmental duplications?
~5%
How many cross-over events per pair of homologs?
~2-3
What percentage of spontaneous abortions are due to aneuploidy?
50-60%
How common is Down Syndrome?
1/800 to 1/900 live births, though risk increases with maternal age.
How common is Trisomy 18?
1/8000 births with 90% perinatal lethality
What is a significant LOD (Log of Odds) Score?
Greater than 3.0