EPHA3基因单核苷酸多态性变异与非综合征型唇腭裂的相关性研究

Correlation between EPHA3 single nucleotide polymorphisms and non-syndromic cleft lip with or without palate

目的探讨EPHA3基因多态性与非综合征型唇裂伴或不伴腭裂(NSCL/P)的相关性。方法收集NSCL/P患儿血样504例,留取外周血5 mL;正常新生儿455例,留取脐带血5 mL,提取基因组DNA。选取EPHA3基因上的88个常见SNP,进行基因分型后,用Haploview软件进行对照组Hardy-Weinberg平衡检验、相关性检验、连锁和单倍型分析。结果EPHA3基因rs7428598和rs79843236的等位基因频数(P<0.05)和基因型频数(P<0.05)在病例组和对照组之间差异有统计学意义。连锁分析后得到了7个单体型块,单体型块1中的单体型TA(P<0.05),单体型块3中的单体型CTTACATGCTGCGTCGAAGCCTCTATTT(P<0.05);CTGCGCCTTGGTCTAGTGTATCGAGCATACC(P<0.05)和单体型CTGCGTATTAACTGAATGCGTAGGGCGCGCC(P>0.05)。结论EPHA3基因的rs7428598和rs79843236 SNP位点多态性变异与宁夏人群唇裂伴或不伴腭裂发病存在相关性。

Objective To investigate the correlation between EPHA3 gene polymorphisms and non-syndromic cleft lip with or without cleft palate(NSCL/P)in Ningxia population.Methods Blood samples were collected from 504 children with NSCL/P in our hospital and 455 healthy neonatal umbilical cord blood samples were collected from the hospital during the same period.blood sample(5ml)was taken for each person.88 SNPs of EPHA3 gene were selected in this study.After genomic,DNA was extracted and genotyping was performed.Haploview software was used for Hardy-Weinberg test,and linkage and haplotype was used for analysis in the control group.Results The genotype frequency and allele frequency of rs7428598(P<0.05)and rs79843236(P<0.05)were statistically different between the two groups.After the linkage analysis of the experimental data,7 linkage blocks were found,among which 4 haplotype combinations of two blocks were statistically different between the two groups.Conclusion The polymorphic variation of rs7428598 and rs79843236 of EPHA3 are related to the incidence of NSCL/P in Ningxia population of China.