Human Genome Organization Flashcards
Mutations in what gene may lead to inherited hypertrophic cardiomyopathy?
MYH7, beta-myosin heavy chain gene
What aspect of a chromosome generally determines it number?
Size
Chromosome 1: 245,203,898 bp
Chromosome 22: 49,476,972 bp
How is genetic disease related to adaptation and evolution?
Genetic disease is the price we pay as a species in order to have a genome that can adapt and evolve. Evolution occurs through random genetic variation, which is almost always deleterious but occasionally advantageous.
About how many new mutations occur in every individual?
About 30, additionally regions are shuffled at each meiosis due to recombination. Mutations can produce somatic or germ line DNA changes.
What is the approximate frequency of single nucleotide polymorphisms in humans, and how many differences does this create?
Approximately 1:1000 bp.
Creating 99.9% matching DNA and ~3,000,000 SNP per person
