目的 探讨VANGL1基因突变和单核苷酸多态性(SNPs)与中国人群神经管缺陷(Neural Tube Defects,NTDs)的相关性.方法 应用聚合酶链反应结合DNA测序技术,对100例NTDs患并及240例对照组的VANGL1基因进行突变筛查,并分析SNP位点是否与NTDs有关.结果 在VANGL1基因的全部8个外显子中,NTDs组及对照组均发现有错义突变c.640C>T(P.R214W)和c.1127A>G(P.Q376R)存在,但两组比较差异无统计学意义(P＞0.05).在VANGL1基因的5'和3'端共发现4个SNPs位点存在,分别是-5046C/G、-5048A/C、54740A/G和54932A/G.-5046C/G和-5048A/C的基因型频率在两组间比较,无统计学意义(P>0.05);而54740A/G和54932A/G的基因型频率在两组间比较,差异有统计学意义(P<0.05).结论 中国人群NTDs患者的VANGL1基因中未发现有单独的基因突变存在,其转录调控区SNPs位点(54740A/G和54932A/G)与NTDs存在相关性.%Objective To investigate the association and mutation of VNAGL1 gene in Chinese patients with neural tube defects( NTDs) . Methods 100 patients with NTDs and 240 normal subjects as control group were investigated in this study. The VANGL1 gene were amplified by polymerase chain reaction( PCR) , the PCR products were purified and then sequenced. The association of the SNPs with the NTD were analyzed. Results Two missense mutation( c. 640C ＞T and c. 1127A ＞ G) were identified both in NTDs and Controls. But there were no significant differences between them ( P＞ 0. 05 ) . Four new single nucleotide polymorphisms ( SNPs)were -5046C/G、 - 5048A/C、54740A/G and 54932A/G. Accorrding to analysis , there were no significant differences of the -5046C/G、 -5048A/C between the NTDs patients and controls , and there were much significant differences of the 54740A/G and 54932A/G between the NTDs patients and controls ( P ＜ 0. 05).Conclusion There was no mutation of gene VANGL1 with NTDs in Chinese population. . But there were may be great relationship of 54740A/G and 54932A/G with NTDs.
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