Вы находитесь на странице: 1из 2

Human genome project sequenced DNA on all human chromosomes 2.

.9 billion base pairs based on 6-10 anonymous individuals completed in early 2000s hundreds of researchers working in 2 independent teams (one government funded and one privately funded) hope is to eventually identify where all genes are located in the sequenced DNA estimated 20,000-25,000 protein-coding genes identifying genes is hard most of genome consists of non-coding DNA repetitive sequences regulatory elements goals over next several decades identify genes understand what gene's role is how each gene interacts with other genes how the expression of each gene is regulated in different tissues genome wide associated scans demonstrate the genetic complexity of diseases compare genomes of individuals with a particular disease to genome of individuals without that disease 2007 genomes of 16,000 British people scanned looked for genetic correlates of bipolar disease, heart disease, Chrohn's disease, hypertension, arthritis, diabetes so far, found 24 variations in genome associated with increased risk for one or more of these diseases remember: phenotype determined by genes and environment comparative genomics is fascinating compare genomes of different animals human vs. mouse very interesting ~500 segments of DNA that are 200+ base pairs long are identical 100% conservedbetween the mouse and humans means that these segments have not mutated at all over past 75 million years during this time, other segments have undergone lots of mutations why are these segments so well-conserved most likely, they are essential for survival many highly conserved segments regulate the expression of other genes chromosomal abnormalities polyploidy multiple sets of chromosomes arises from failure of chromosomes to separate during meiosis or from fertilization of an egg by more than 1 sperm lethal in humans if in somatic cells aneuploidies presence of a single additional chromosome or absence of chromosome more common usually result when chromosomes fail to separate during anaphase(non-disjunction) trisomy cell has 2 copies of each chromosome except for one, which has 3 copies

monosomy individual lacks one member pair of a chromosome non-disjunction can occur in sex chromosomes or somatic cells in sex cells, it can produce: sperm with 2 x's or 2 y's egg with 2 x's or 0 x's