CAJ | 학술논문

目的：探寻甘油-3-磷酸脱氢酶样基因（glycerol-3-phosphate dehydrogenase 1 like gene，GPD1-L）的变异位点，讨论其与青壮年猝死综合征（sudden manhood death syndrome，SMDS）的关系。方法提取SMDS组及健康对照组血样的基因组DNA，采用PCR法扩增GPD1-L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，直接进行DNA测序以明确遗传变异类型，并进行基因型频率和等位基因频率的统计学分析。结果在SMDS组中共检测到2个变异位点，c.465C＞T和c.*18G＞T，后者在SMDS组和对照组中基因型分布和等位基因频率存在一定差异，但无统计学意义（P＞0.05）。结论 GPD1-L基因变异与中国人SMDS发生的相关性尚有待进一步研究。
목적：탐심감유-3-린산탈경매양기인（glycerol-3-phosphate dehydrogenase 1 like gene，GPD1-L）적변이위점，토론기여청장년졸사종합정（sudden manhood death syndrome，SMDS）적관계。방법제취SMDS조급건강대조조혈양적기인조DNA，채용PCR법확증GPD1-L기인편마구외현자、외현자-내함자교계구이급3′측익구서렬，직접진행DNA측서이명학유전변이류형，병진행기인형빈솔화등위기인빈솔적통계학분석。결과재SMDS조중공검측도2개변이위점，c.465C＞T화c.*18G＞T，후자재SMDS조화대조조중기인형분포화등위기인빈솔존재일정차이，단무통계학의의（P＞0.05）。결론 GPD1-L기인변이여중국인SMDS발생적상관성상유대진일보연구。
Objective To analyze the variations of glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) and address the association with sudden m anhood death syndrom e (SMDS). Methods The genom ic DNA was extracted from blood sam ples of the SMDS group and the norm alcontrolgroup.The exons, exon-in-tron boundaries and 3′-U TRs of coding region of GPD1-L w ere PCRam plified and DNAsequenced di-rectly to confirm the types of variations. The genotype frequency and allele frequency w ere analyzed statistically. Results There w ere tw ovariants in the SMDS group, c.465C>Tand c.*18G>T, the latter existed certain degree difference of genotype distribution and allele frequency betw een the SMDS group and the control group, but there was no statistically significant (P>0.05). Conclusion The relation be-tw een gene m utation of GPD1-L and the occurrence of Chinese SMDS deserves a further research.