The invention relates to
Chinese population linkage analysis
single nucleotide polymorphism (SNP) marker sets and a use method and application thereof. On the basis of hundreds of millions of
Chinese Han population data results in the
mass data of the International HapMap Project, medium-density and high-density SNP marker sets for linkage analysis are constructed and optimized, according to the statistical comparisons of multiple parameters such as the
linkage disequilibrium, the polymorphism level, the
typing success rate, the distribution position and density of genomes and the functional characteristic, and the multi-level selections and experimental verifications. The two marker sets separately contain 3000 and 6001 loci, wherein the 6001 loci contain the 3000 loci. The SNP sets aim at the Han genetic background in design, have high polymorphism in Chinese and can realize the aim of efficiently marking the Chinese family sample genomes. The selection of polymorphic loci is based on the neutral evolution principle, and all the loci are in a non-
gene function region, thus the influence of evolution on the
gene function can be avoided. Meanwhile, the characteristics that the marking loci have high
typing detectability and can uniformly cover the whole genomes can ensure that the whole genomes can be screened completely and new
pathogenic genes can be located and found. The two sets of
SNP markers are used to customize probes or chips and perform whole-
genome genotyping to family samples; and the
typing data are used for linkage analysis, and the haplotyping and fine locating of the linkage candidate region are also adopted, thus the use method has more accurate locating result than the traditional method while the cost is lower and the speed is higher. The distribution and coverage of the 6001 SNP marker set in human chromosomes are shown in the appended drawings.