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【目的】研究中国汉族人群不明原因夜间猝死综合征（SUNDS）及心律失常病例中是否存在NUP155基因突变，并分析SUNDS及心律失常与NUP155基因突变的相关性。【方法】收集40例SUNDS案例和30例临床心律失常患者的外周血样本分别作为SUNDS组和临床组，以千人基因组数据库（1000Genomes）与ExAC数据库中东亚人群作为人群对照组。应用基因芯片测序和Sanger测序对收集到的70例样本进行NUP155基因变异检测，通过Pearson卡方检验或Fisher′s精确检验（α=0.05）分析NUP155基因突变与SUNDS及心律失常的相关性。【结果】共检测到4个非同义突变（NUP155 c.4051A>G，p.N1351D、NUP155 c.2995-3012delCCTGGTCCTCCAGTGTTG，p.P999-L1004del、NUP155 c.485G>T，p.162R>L、NUP155 c.485G>A，p.162R>Q），其中NUP155 c.2995-3012delCCTGGTCCTCCAGTGTTG，p.P999-L1004del和NUP155c.485G>T，p.R162L为新发现的突变。SUNDS样本与ExAC数据库东亚人群的NUP155cDNA第4051位碱基的构成比具有统计学差异（P＜0.05），心律失常样本与ExAC数据库东亚人群的NUP155cDNA第485位碱基的构成比具有统计学差异（P＜0.05）。同时发现1个同义突变（NUP155c.516C>T）、1个位于内含子的突变以及6个内含子多态性位点。【结论】中国汉族人群SUNDS和心律失常病例中存在NUP155基因突变，NUP155基因突变与SUNDS和心律失常具有相关性。

【目的】探讨常染色体STR遗传标记鉴定两个体同胞关系的可行性。【方法】用PowerPlex^TM 16体系15个常染色体STR基因座检测50对全同胞、25对半同胞和50对无关个体，ITO法计算全同胞关系指数（PSI）、半同胞关系指数（HSI）和PSI：HSI值，比较3组两个体间等位基因匹配情况，并进行组间差异的x^2检验。【结果】全同胞的FSI均大于1；19对半同胞的HSI大于1；无关个体FSI均小于1；49对无关个体HSI小于1，1对为1．297。46对全同胞的FSI：HSI值大于1，22对半同胞的FSI：HSI值小于1。全同胞组两个体间1对等位基因全相同、半相同、全不同的基因座数平均值分别为6．06个、7．52个、1．42个；半同胞组分别为2．96个、8．48个、3．56个；无关个体组分别为1．24个、7．22个、6．54个。x^2检验3组两个体间1对等位基因全相同和全不同的基因座数差异有显著意义，半相同的基因座数差异无显著意义。【结论】PowerPlex^TM 16体系在全同胞一无关个体的鉴定中效率较高，在鉴定半同胞一无关个体或全同胞一半同胞时效率降低。全同胞一半同胞关系鉴定时，PSI：HSI值是一个较有效的指标：大于1倾向于为全同胞，小于1倾向于为半同胞。

【目的】研究中国广东地区汉族、华东地区汉族、内蒙古汉族、云南白族、内蒙古蒙古族、新疆维吾尔族等6个群体在线粒体DNARegionⅤ的多态性。【方法】PCR扩增后采用变性高效液相色谱技术分离片段,检测线粒体DNARegionⅤ9bp缺失的频率。【结果】在中国6个群体中发现标准型、缺失型和3型3种多态类型,9bp缺失频率在6个群体分别为21.4,18.0,14.0,16.9,7.0,10.4。【结论】中国6个群体在线粒体DNARegionⅤ均存在9bp缺失的多态性,6个群体间的缺失频率存在差异。

【目的】调查S£33位点在广东汉族群体的扩增片段长度多态性。［方法］应用荧光标记的引物对 SE33位点进行PCR扩增，采用Prism ABl377 DNA自动测序仪分离PCR产物．结合等位基因梯阶和分子抵内标 进行基因分型。（结果］在114名广东汉族无关个体中观察到了35个等位基因，87种基因型。 个体识别能力 (DP)值为0. 986 I, 杂合度(H)为0. 912 3。 l结论 l 荧光标记S£33扩增体系个体特异性强，识别力高，是个体识 别和亲子鉴定的高效的检测体系。

【目的】探讨亲子鉴定案件的特点。【方法】对本室从 1982 年至 2001 年 4月期间检验的 6 163 例亲子鉴定案件资料进行回顾性 分析。【结果】分析结果显示亲子鉴定案件逐年上升,应用范围广泛,检材类型多样,鉴定技术日臻完善。【结论】应该规范与亲子鉴定相关的 技术,加强实验室管理,并进行相关的立法。

Copyright of Journal of Forensic Medicine / Fayixue Zazhi is the property of Journal of Forensic Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Forensic Medicine / Fayixue Zazhi is the property of Journal of Forensic Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Forensic Medicine / Fayixue Zazhi is the property of Journal of Forensic Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Forensic Medicine / Fayixue Zazhi is the property of Journal of Forensic Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)