广西扶绥县肝癌高发家系谷胱甘肽转硫酶GSTM_1和GSTT_1基因多态性的研究

目的探讨广西扶绥县肝癌高发区壮族人群谷胱甘肽转硫酶GSTM1和GSTT1的基因多态性在肝癌家族聚集性中的作用,以及一级亲属与先证者之间HCC易感性的关系。方法采用病例-对照研究方法,收集21个广西扶绥县壮族肝癌家系76例,以及该地区21个对照家系68例,采用多重PCR技术和凝胶成像分析方法,对入选者GSTM1和GSTT1基因型进行检测,用ELISA法检测HBsAg,并将实验结果与临床资料相结合,进行统计学分析。结果①GSTM1基因空白型在肝癌家系组、对照家系组之间的频率分别为67.1%和36.8%(P=0.000);GSTT1基因空白型在肝癌家系组、对照家系组之间的频率分别为40.8%和19.1%(P=0.005);GSTM1和GSTT1基因同时缺失在肝癌家系组、对照家系组的频率分别为31.6%和2.9%(P=0.000)。②将GSTM1及GSTT1基因同时表达型为基准计算两基因联合作用的危险度,GSTM1基因缺失GSTT1基因表达型、GSTM1基因表达GSTT1基因缺失型、GSTM1基因及GSTT1基因联合缺失型的OR值分别为0.102、0.210和3.092。③GSTM1基因空白型在先证者与其直系亲属之间的频率分别为71.4%和65.5%(P=0.620),GSTT1基因空白型在先证者与其直系亲属之间的频率分别为47.6%和38.2%(P=0.454)。GSTM1和GSTT1基因同时缺失在先证者与其直系亲属之间的频率分别为33.3%和30.9%(P=0.839),差异均无统计学意义(P>0.05)。结论①GSTM1和GSTT1基因的多态性与肝癌家族聚集性相关;②GSTM1和GSTT1基因联合缺失与HCC的发生呈显著正相关,且两基因可能具有协同作用;③直系亲属与先证者HCC发生率无差别。

Investigation of a Chinese pedigree with early-onset familial Alzheimer’s disease caused by presenilin 1 p.M233T mutation

Objective To analyze the clinical presentation andgenotype of a Chinese pedigree with early-onset familialAlzheimer's disease. Methods A pedigree with early-onsetfamilial Alzheimer's disease was recruited. The clinicaldata of the proband who was admitted to ShengjingHospital in March 2018 and the family members werecollected. The DNA sequences of 53 dementia relatedgenes were screened using next-generation sequencingtechnology in the blood sample of the proband. The point mutation discovered in the proband was also investigatedin some family members. Results There were five memberswith Alzheimer's disease in the pedigree,includingthe proband,a 42 years old female. The onset age of apedigree member was 33 years and that of the probandwas 37 years. A point mutation from T to C at position698 (M233T) in the exon 7 of presenilin 1 (PS1) genewas found in the proband and two other family memberswho were clinically normal. Conclusion The M233T mutationof PS1 gene can lead to early-onset familialAlzheimer's disease. This family is the first pedigree withM233T mutation of PS1 gene in China,which deservesclinical attention.

初探《龙氏迪光录》的史料价值

《龙氏迪光录》为黎平亮寨龙氏族谱,由晚清举人龙绍讷编修,其中涉及邱墓、祠庙、山川古迹形胜、管辖废宅驻屯、丁粮夫役吏目、桥梁亭台坊表、市肆、风俗、土产、衙署工廨等,对于全面了解黎平亮寨是不可或缺的重要史料。

泛政治化背景下的家族秩序续建——以苏北乐安堂孙氏两次修谱为例

苏北乐安堂孙氏不到20年内两次重修宗谱的个案考察表明,通过重修宗谱续建家族秩序是上世纪八十年代以来中国特有的社会现象。重修宗谱不是单纯的民间行为,而是有着泛政治化背景下诸多因素影响和推动,宗谱内容变化则深刻折射着几十年来泛政治化影响下的社会变迁。泛政治化有着深刻的历史渊源和文化传统,影响的取向是多元的,宗谱修撰引发因素是多向的,泛政治化的影响与修谱的双向互动,一定会长期存在。

郑州华南城唐范阳卢氏夫人墓发掘简报

2010年,郑州华南城发掘一座唐墓。墓葬砖雕精美。墓中出土墓志上刻青龙、白虎、玄武、朱雀四瑞兽及十二生肖等图案。此墓的发掘为我们补正和研究裴度家族谱系提供了珍贵的实物资料。