Detection of single nucleotide polymorphisms on TNF gene in Henan Han population
Hao Hu
Abstract
Hao Hu
Abstract
Aim:To detect polymorphism of six single nucleotide polymorphisms(SNPs) including 5 sites at -238,-308,-850,-857,-863 on TNF-α gene and 1 site at +252 on TNF-β gene in Henan Han population.Methods:The genomic DNA of blood samples of 217 unrelated individuals from Henan Han population was extracted by phenol-chloroform method,and to be investigated the allele and genotype of the six SNPs by using PCR-RFLP.Results:In Henan Han population,the distribution of allele of 6 SNPs was in Hardy-Weinberg equilibrium.The minor allele frequencies of the six SNPs varied from 0.058 to 0.399.Out of them,the minor frequency of TNF-α-857 and TNF-β+252 reached 0.399,0.313 respectively.57 genotypes combined with the six SNPs were observed and the heterozygosity was 0.807.25 haplotypes were deduced by SHEsis Soft.The polymorphic information content was 0.857 and the haplotype diversity reached 0.894.The genotyping of 6 SNPs on TNF gene was used in three families,the children’s genotypes consistented with Mendelian inheritance.Conclusion: The six SNPs loci on TNF gene have highly polymorphism and will prove to be useful for forensic identifications.
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Aim:To detect polymorphism of six single nucleotide polymorphisms(SNPs) including 5 sites at -238,-308,-850,-857,-863 on TNF-α gene and 1 site at +252 on TNF-β gene in Henan Han population.Methods:The genomic DNA of blood samples of 217 unrelated individuals from Henan Han population was extracted by phenol-chloroform method,and to be investigated the allele and genotype of the six SNPs by using PCR-RFLP.Results:In Henan Han population,the distribution of allele of 6 SNPs was in Hardy-Weinberg equilibrium.The minor allele frequencies of the six SNPs varied from 0.058 to 0.399.Out of them,the minor frequency of TNF-α-857 and TNF-β+252 reached 0.399,0.313 respectively.57 genotypes combined with the six SNPs were observed and the heterozygosity was 0.807.25 haplotypes were deduced by SHEsis Soft.The polymorphic information content was 0.857 and the haplotype diversity reached 0.894.The genotyping of 6 SNPs on TNF gene was used in three families,the children’s genotypes consistented with Mendelian inheritance.Conclusion: The six SNPs loci on TNF gene have highly polymorphism and will prove to be useful for forensic identifications.
Key concepts: Single-nucleotide polymorphism, Genetics, Genotyping, Minor allele frequency, Biology, Haplotype, Genotype, Allele frequency