| GPD1-L基因检测及其与青壮年猝死综合征的相关性 |
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| 引用本文： | 徐小龙,王雯,刘超,侯一丁,黄雷,刘长晖,李越,成建定.GPD1-L基因检测及其与青壮年猝死综合征的相关性[J].法医学杂志,2013(5):348-352. |
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| 作者姓名： | 徐小龙 王雯 刘超 侯一丁 黄雷 刘长晖 李越 成建定 |
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| 作者单位： | [1]深圳市公安局坪山分局,广东深圳518118 [2]深圳市公安局罗湖分局,深圳罗湖518004 [3]广州市刑事科学技术研究所,广东广州510030 [4]中山大学中山医学院法医学系,广东广州510080 |
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| 基金项目： | 国家自然科学基金面上项目（81172901）；中央高校基本科研业务费专项资金项目（11ykpy04）；“十二五”国家科技支撑计划项目 |
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| 摘 要： | 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.465CT和c.*18GT,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(P0.05)。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。
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| 关 键 词： | 法医遗传学 青壮年猝死综合征 甘油--磷酸脱氢酶样基因 |
Gene Detection of GPD1-L and the Association with Sudden Unexplained Death Syndrome in Young Adults |
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| XU Xiao-long,WANG Wen,LIU Chao,HOU Yi-ding,HUANG Lei,LIU Chang-hui,LI Yue,CHENG Jian-ding.Gene Detection of GPD1-L and the Association with Sudden Unexplained Death Syndrome in Young Adults[J].Journal of Forensic Medicine,2013(5):348-352. |
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| Authors: | XU Xiao-long WANG Wen LIU Chao HOU Yi-ding HUANG Lei LIU Chang-hui LI Yue CHENG Jian-ding |
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| Institution: | 1. Pingshan Branch of Shenzhen Public Security Bureau, Shenzhen 518118, China; 2. Luohu Branch of Shenzhen Public Security Bureau, Shenzhen 518004, China; 3. Guangzhou Institute of Criminal Science and Technology, Guangzhou 510030, China; 4. Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yea-Sen University, Guangzhou 510080, China) |
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| Abstract: | 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. |
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| Keywords: | forensic genetics sudden manhood death syndrome glycerol-3-phosphate dehydrogenase 1 like gene |
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