Single nucleotide polymorphisms and haplotypes of MBL gene in Han and Hui ethnic children of Han and Hui ethnics / 解放军医学杂志

ABSTRACT

Objective To analyze the single nucleotide polymorphisms(SNPs) in promoter region,5' untranslated region,exon 1 and haplotypes of mannose binding-lectin(MBL) gene in Han nationality and Hui etheic children in China.Methods Sixty nine Hui ethnic children from Ningxia Huizu Auto.Reg.and 105 Han children from Zhejiang Prov.were enrolled in the present study.Whole blood samples(1.5 ml) were collected into potassium-EDTA tubes.SNPs in promoter region,5' untranslated region and exon 1 of MBL gene were determined by sequence analysis using BigDye Mix 3730 genetic analyzer,and genetic analysis was performed using SHEsis software.Results The variant allele frequencies at-221 sites in Han and Hui objects were 0.091 and 0.123,respectively,with no difference between the two groups(?2=0.684,P=0.408).No mutation was found at sites +223 and +239 in exon 1 of MBL gene in the study.The variant frequency at +230 site in Hui children(0.268) was significantly higher than that in Han objects(0.167,?2=5.223,P=0.022).The most common haplotype was YA,and the frequencies of YA haplotype in Han and Hui ethnic were 0.770 and 0.669,respectively,with significant difference between the two groups(?2=4.312,P=0.038).Conclusion The variant allele frequency at +230 sites in exon 1 in Hui ethnic children is higher than that in Han subjects.The most common haplotype is YA,and the frequency of YA haplotype is higher in Han children than that in Hui subjects.