Mutation screening and associated study of VANGL1 gene in chinese patients with Neural Tube Defects.[J].Journal of Clinical Pediatric Surgery,2011,10(02):94-97.
中国人群神经管缺陷VANGL1基因突变的筛查及关联研究
- Title:
- Mutation screening and associated study of VANGL1 gene in chinese patients with Neural Tube Defects.
- Keywords:
- ; Spinal Dysraphism; Genetic Screening
- 文献标志码:
- A
- 摘要:
- 【摘要】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患者及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。
- Abstract:
- 【Abstract】ObjectiveTo investigate the association and mutation of VNAGL1 gene in Chinese patients with neural tube defects(NTDs).Methods100 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<005）.ConclusionThere 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.
参考文献/References:
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