VKORC1基因rs9923231及GGCX基因rs2592551位点多态性与新疆维吾尔族、汉族人群心源性脑栓塞的相关性研究

目的:探讨维生素K环氧化物还原酶复合体亚单位1(VKORC1)基因rs9923231及γ-谷氨酰羧化酶(GGCX)基因rs2592551位点多态性同新疆维吾尔族和汉族人群发生心源性脑栓塞的关系。方法:选取2017年1月至2018年10月曾就诊于新疆医科大学第六附属医院神经内科的维吾尔族和汉族散发性房颤致脑栓塞患者各50例做为病例组,同时选取非心源性脑卒中维吾尔族患者50名及汉族患者150名为对照组,从外周静脉血中提取基因组DNA,采用PCR-RFLP技术检测VKORC1基因rs9923231及GGCX基因rs2592551多态性位点在不同人群中的分布。结果:维吾尔族脑栓塞组及对照组VKORC1基因rs9923231多态性位点基因型频率分布差异有统计学意义(P0.05);汉族脑栓塞组及对照组VKORC1基因rs9923231多态性位点基因型频率的分布比较差异无统计学意义(P0.05)。GGCX基因rs2592551多态位点在汉族、维吾尔族脑栓塞组及对照组的分布差异均无统计学意义(P0.05)。结论:VKORC1基因rs9923231多态性可能与新疆维吾尔族人群心源性脑栓塞的发病有关,而与汉族人群无关;GGCX基因rs2592551多态性可能与维吾尔族及汉族人群心源性脑栓塞的发病均无关。     

中国汉族人的皮下脂肪发育

目前尚未见中国各地汉族成人皮褶厚度的综合研究。于2009年至2013年在中国22个省测量了汉族成人26928例(男13221例,女13707例)的面颊皮褶、肱二头肌皮褶、肱三头肌皮褶、肩胛下皮褶、髂嵴上皮褶、小腿内侧皮褶的厚度,计算体脂肪率。运用u检验对城乡间皮褶厚度值进行比较,对6项皮褶厚度与纬度、经度、年龄进行相关分析。研究发现,总的说来,随纬度的减少（从北向南）、经度的增加（从西向东）、年龄的增加,汉族男性皮褶厚度增大,皮下脂肪增厚。随纬度的增加（从南向北）、年龄的增长,汉族女性皮褶厚度增大,皮下脂肪增厚,体脂率（PBF）增大。城市汉族男性皮褶厚度值均大于乡村汉族男性,城市女性肩胛下皮褶、小腿内侧皮褶厚度值接近于乡村女性,其余4项皮褶厚度值大于乡村女性（P<0.01）。城市男性PBF值大于乡村男性,城市女性PBF值小于乡村女性。城市男性、女性与乡村男性、女性均为肩胛下皮褶最厚、髂嵴上皮褶次之,以肱二头肌皮褶最为菲薄。     

黑龙江省汉族大学生遗传性状调查分析

调查了黑龙江省675例大学生的苯硫脲尝味能力、眼睑、卷舌、发式、发旋、额前发际、耳垂、达尔文结节、拇指端关节外展的调节类型共9对遗传性状的基因频率。结果显示6个隐性基因频率高于显性基因频率;而且黑龙江地区汉族多数遗传性状的隐性基因频率与国内其他地区汉族存在显著差异。黑龙江省汉族人群已形成各地区汉族人群的遗传结构复合体。     

《自然-遗传学》：研究发现汉族人冠心病易感基因位点

最新出版的《自然-遗传学》杂志集中刊登了三篇独立研究的论文,分别在欧洲、南亚和中国汉族人群中。发现了冠心病的易感基因位点。     

科研快讯

《自然-遗传学》:汉族人群鉴定出两个与肺癌相关新位点来自南京医科大学、中国医学科学院北京协和医院、上海交通大学、华中科技大学、复旦大学、中国医科大学、广州医学院等研究机构的科研人员通过全基因组关联研究(GWAS),在中国汉族人群中鉴定出了与肺癌相关的两个新位点。这一研究成果在线刊登在6月3日的《自然-遗传学》(Nature Genetics)杂志上。     

新疆3个民族3对性状的遗传学研究

通过对新疆地区汉族、维吾尔族和哈萨克族的利手、扣手及优势足这3对遗传性状的调查,比较这3对性状在3个民族间基因频率的分布。结果显示：除了汉族和维吾尔族在优势足上存在明显差异,这3对遗传性状在3个民族间差异较小。     

A genetic adaptive pattern＊low hemoglobin concentration in the himalayan highlanders

Mean hemoglobin （Hb） concentration of about 3 500 subjects derived from 17 studies of Himalayan highlanders （Tibetans, Sherpas, and Ladakhis） was compared with lowlanders （Chinese Han, Indian Tamils） lived in the Himalayas, and European climbers during Everest expeditions as well as Andean natives. The results found that Hb concentration in Himalayan highlanders was systemically lower than those reported for Andean natives and lowland immigrants. These comparative data demonstrated that a healthy native population may successfully reside at high altitude without a significant elevation in Hb, and the lower Hb levels of Himalayan highlanders than those of migrated lowlanders and Andean natives are an example of favourable adaptation over the generations. In addition, excessive polycythemia has frequently been used as a marker of chronic mountain sickness （CMS）. Altitude populations who have a higher Hb concentration also have a higher incidence of CMS. The low Hb in Himalayans suggested as showing adaptation over many generations in Tibetan stock. Recent work in Tibet, suggested that Tibetans there may have adapted to high altitude as a result of evolutionary pressure selecting for genes which give an advantage at altitude. All of the population genomic and statistical analysis indicated that EPAS1 and EGLN1 are mostly likely responsible for high altitude adaptation and closely related to low Hb concentration in Tibetans. These data supported the hypothesis that Himalayan highlanders have evolved a genetically different erythropoietic response to chronic hypoxia by virtue of their much longer exposure to high altitude.     

No relation between ACEml/D polymorphism and high altitude pulmonary edema in the Han Chinese

Objectives To explore whether the angiotensin T -converting enzyme （ACE） I/D （insertion/ deletion） polymorphism is associated with the susceptibility to high altitude pulmonary edema （HAPE） in the Han Chinese. Methods One hundred and forty-seven HAPE-p （HAPE patients） and 193 HAPE-r （HAPE resistants） were enrolled from the Yushu earthquake reconstruction workers in Qinghai province where the altitude is over 3 500 m above sea level. Blood samples were collected from each of the HAPE-p and HAPE-r groups. Information about physiological phenotypes was obtained via fieldwork investigation. The ACE-I/D polymorphism in HAPE-p and HAPE-r was detected by polymerase chain reaction （PCR）. Results The SaO2 was significantly lower while HR was significantly higher in HAPE-p group than those in HAPE-r group. The genotype frequencies of ACE-I/D for II, ID, DD in HAPE-r and HAPE-p groups were 0.430, 0.446, 0.124 and 0.435, 0.469, 0.095, respectively, the allelic frequencies of I and D were 0.650, 0.350 and 0.670, 0.330, respectively. The OR of ID, DD and D alleles relative to II for HAPE was 0.961 （0.610-1.514）, 1.322 （0.634-2.758） and 1.080 （0.783-1.489）. There was no significant difference of the genotypic and the allelic frequencies in ACE-I/D polymorphism between HAPE-p and HAPE-r groups. Conclusions There is no relation between ACE-I/D polymorphism and HAPE in the Han Chinese.     

德州汉族人群37个Y⁃STR基因座遗传多态性分析

调查德州汉族人群598名男性无关个体37个Y-STR基因座的遗传多态性,分析其在法医学和群体遗传学方面的应用价值,用AGCU Y37荧光检测试剂盒对德州汉族群体的37个Y-STR基因座进行扩增,用3500xL基因分析仪对其进行检测。用MEGA 7.0软件,通过邻接法（neighbor-joining, NJ）构建德州汉族群体和其他15个参考群体的系统发生树,探索群体间的遗传关系。结果共检出593种单倍型,基因多样性（genetic diversity, GD）值为0.113 9（DYS645）～0.971 4（DYS385a/b）,单倍型多样性（haplotype diversity, HD）和识别能力（discriminative capacity, DC）分别为0.999 971 989和0.991 6。结果表明,这37个Y-STR基因座在德州汉族人群中有较高的多态性分布。群体遗传分析中,遗传距离、多维尺度分析( multi-dimensional scaling,MDS) 和系统发生树分析结果表明,德州汉族与其他地区的汉族群体遗传距离更近。不同群体的遗传特征与语系划分、历史形成、地理分布等方面具有一致性。研究结果可为德州汉族人群的法庭科学和群体遗传学研究提供基础数据支持。     

智力低下患者的手纹分析

本文对安徽合肥和芜湖地区284例（男145人,女139人）2－59岁智力低下患者的手纹进行了分析。结果表明：患者的皮纹参数与正常对照组有明显的统计学差异,其中尺箕、箕／箕组合、帐弓、皮纹密度、atd角、t距比、掌褶通贯型、悉尼型、过渡Ⅰ型和小指短小类型等项参数均高于对照组（P＜0.01);而简斗、斗／斗组合、a-dRC、t-dRC低于对照组（P＜0.01),a-bRC亦低于对照组（P＜0.05)。这些皮纹参数可以作为智力低下患者的辅助诊断指标。