人类MOG1基因检测及其与青壮年猝死综合征的相关性研究

目的寻找MOG1基因的变异位点,探讨其与青壮年猝死综合征的关系。方法提取青壮年猝死综合征病例组及健康对照组的基因组DNA,采用聚合酶链式反应（PCR）方法扩增MOG1基因编码区外显子、外显子-内含子交界区以及3′侧翼区序列,直接行DNA测序以明确遗传变异类型,并进行统计学分析。结果在病例组中共检测到3个变异位点,其中2个为新发现的突变,分别为c.285G〉C（p.L95L）和c.＊4C〉T,另1个为单核苷酸多态性位点c.437＋16C〉T。在病例组和对照组中c.437＋16C〉T位点基因型分布（P=0.071）和等位基因频率（P=0.819）存在一定程度差异,但差异均无统计学意义。结论MOG1基因是否是中国人青壮年猝死综合征的易感基因还有待进一步研究。

Screening of the human MOG1 gene and their association with sudden unexplained nocturnal death syndrome

Objective To screen the variations of the human MOG1 gene and address their association with sudden unexplained nocturnal death syndrome（SUNDS）.Methods Genomic DNA was extracted from blood samples of the SUNDS cases and from the matched normal controls.All encoding exons,including the splice junctions and 3′-UTRs were PCR amplified and directly sequenced.Results There were three variants in the case group,two of which,c.285 G C（p.L95 L） and c.＊ 4CT,were novel.The third one was a single nucleotide polymorphism site c.437＋16 C T.There existed certain degree of difference of genotype distribution（P=0.071） and allele frequency（P=0.819） between the disease cases and the control group,but it wasn′t statistically significant.Conclusion Whether or not MOG1 gene is a susceptibility gene for Chinese SUNDS deserves a further research.