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Genetics

Like all mammals humans are a diploid eukaryotic species. Each somatic cell has two sets of 23 chromosomes, each set received from one parent, gametes have only one set of chromosomes which is a mixture of the two parental sets. Among the 23 chromosomes there are 22 pairs of autosomes and one pair of sex chromosomes. Like other mammals, humans have an XY sex-determination system, so that females have the sex chromosomes XX and males have XY.

One human genome was sequenced in full in 2003, and currently efforts are being made to achieve a sample of the genetic diversity of the species (see International HapMap Project). By present estimates, humans have approximately 22,000 genes.[78] The variation in human DNA is minute compared to that of other species, possibly suggesting a population bottleneck during the Late Pleistocene (ca. 100,000 years ago), in which the human population was reduced to a small number of breeding pairs.Nucleotide diversity is based on single mutations called single nucleotide polymorphisms (SNPs). The nucleotide diversity between humans is about 0.1%, which is 1 difference per 1,000 base pairs. A difference of 1 in 1,000 nucleotides between two humans chosen at random amounts to approximately 3 million nucleotide differences since the human genome has about 3 billion nucleotides. Most of these SNPs are neutral but some (about 3 to 5%) are functional and influence phenotypic differences between humans through alleles.

By comparing the parts of the genome that are not under natural selection and which therefore accumulate mutations at a fairly steady rate, it is possible to reconstruct a genetic tree incorporating the entire human species since the last shared ancestor. Each time a certain mutation (Single nucleotide polymorphism) appears in an individual and is passed on to his or her descendants a haplogroup is formed including all of the descendants of the individual who will also carry that mutation.

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