中国17个人群中的耵聍基因频率及干型基因地理分布图

报道了中国17个人群的干型耵聍基因频率,其中汉族人群8个,少数民族人群8个,还有一个未识别民族,即西藏聂拉木县的夏尔巴人。发表了我国汉族人群中以及汉族与少数民族中干型耵聍基因频率的地理分布图。干型耵聍基因在17个人群中的频率及两张基因频率地理分布图都进一步证明,中国汉族与少数民族 (新疆信仰伊斯兰教的少数民族除外)之间有许多基因流动、干型耵聍基因起源于东北亚。中国人群中干型耵聍基因的Fst应在0.1057与0.1602之间。 Abstract:Gene frequencies of serumen type of 17 populations in China are reported,including 8 Han subpopulations,8 ethnic minorities and 1 un-identified ethnic group,the Sherpas in Nyalam County,Tibet.Gene-frequency-distribution maps of dry serumen in Han,as well as in Han and ethnic minorities of China were also published.The gene frequency data of 17 populations and their distribution maps once again showed that there was a large-scale gene exchange between Han and ethnic minorities,my be,with the exception of Moslem ethnic groups in Xinjiang,and that the dry serumen gene originated in Northeast Asia.The Fst of dry serumen gene in Chinese populations as a whole was estimated to be between 0.1057 and 0.1602.     

RELN基因启动子区SNP位点与精神分裂症的相关性分析

目前有很多证据证明RELN基因在世界人群中是一个精神分裂症的致病基因.基于之前报道过的RELN基因在精神分裂症患者中表达下降的事实,可以推测在RELN基因启动子区可能包含影响精神分裂症发生的多态位点.该研究分析了中国西南地区病例——对照人群中(940位患者和1369位正常人)RELN基因启动子区的3个单核苷酸多态性位点与精神分裂症的相关性.研究结果显示,这些多态位点都不与精神分裂症相关,表明RELN基因的致病位点并不在其启动子区.将前人研究结果与该研究结果进行综合分析(共2843个样本),结果仍不显著.因此,该研究表明,RELN基因启动子区的单核苷酸多态性位点在中国人群中并不与精神分裂症相关.     

中国汉族人群中RELN基因rs7341475位点与精神分裂症的相关性分析

精神分裂症是一种常见的复杂精神疾病.大量的实验证据表明,遗传因素在精神分裂症的发生中起到了重要的作用.截至目前,有报道称至少100个基因与精神分裂症相关,但它们在不同人群中的重复性不好.在这些基因中,RELN在多个人群中都被证实与精神分裂症相关,表明它可能是一个真实的易感基因.目前,在RELN基因上有很多个单核苷酸多态性位点被证实与精神分裂症相关,其中研究最多的是通过全基因组关联分析发现的在RELN基因第四个内含子中的单核苷酸多态性位点rs7341475,它被证明与精神分裂症的发生相关.为了验证该位点在中国人群中是否与精神分裂症相关,作者对来自中国玉溪的病例——对照样本(400位患者和400位正常人)进行了遗传分析.结果显示,在该样本中rs7341475与精神分裂症不相关,这表明rs7341475在中国人群中可能不是致病多态性位点.     

江西地区畲族人群pcsk9基因变异的SNaPshot分析

目的 研究江西地区畲族人群pcsk9基因SNP位点的变异,为开展冠心病风险研究提供可借鉴的资料.方法 通过SNaPshot法对84例畲族人外周血DNA pcsk9基因外显子7个SNP位点进行分型,ABI 3730XL扫描分型结果.结果 7个SNP位点中,仅rs505151A/G位点检测到基因变异,其G基因的频率为0.036.结论 江西地区畲族人群pcsk9基因7个SNP位点的基因型频率和等位基因频率与国内外其他民族间均存在一定差异,提示畲族人群可能具有独特的冠心病风险标记位点及变异特征.本研究为开展畲族人群pcsk9基因的冠心病风险关联性研究提供了参考依据.     

PKD1基因与抑癌基因P53多态性与非综合征性唇腭裂的关联研究

目的:探讨多囊性肾病基因1(polystic kidney disease,PKD1)多态位点rs8049367与抑癌基因P53(anti-oncogene P53)多态位点rs4791774单核苷酸多态性与中国北方人群非综合征性唇腭裂(NSCL/P)的相关性。方法:运用聚合酶链式反应-连接酶检测反应(PCR-LDR)的检测方法,对602例NSCL/P患者和510例对照人群的PKD1基因的rs8049367位点和抑癌基因P53的rs4791774位点进行基因分型。利用SPSS12.0软件分析PKD1基因,抑癌基因P53多态性与NSCL/P的相关性。结果:rs8049367位点和rs4791774位点基因型及基因频率在两组的分布中差异无统计学意义(P0.05)。结论:PKD1基因的rs8049367位点和抑癌基因P53的rs4791774位点单核苷酸多态性可能与中国北方人群非综合征性唇腭裂的发生无相关性。     

冠状动脉粥样硬化性心脏病8号染色体基因扫描

冠状动脉粥样硬化性心脏病(Coronary heart disease,CHD)的全基因组扫描研究在世界各大研究中心展开,关于CHD易感基因位点的报道多集中于1号、3号、9号、11号、16号染色体,对8号染色体的研究报道甚少。在汉族人群中未见关于CHD的8号染色体的基因扫描研究。文章旨在查找汉族人群中CHD易感基因位点,选取8号染色体上间隔10 cM遗传距离的13个微卫星遗传位点,采用DNA混合池的方法对CHD患者组156例和正常对照组1 000例DNA样本进行基因扫描,经卡方检验分析患者组和对照组每个位点的等位基因频率差异。发现在患者组与对照组中D8S264位点(8p23.3-p23.2)及D8S285位点(8q12.1)的等位基因频率差异有统计学意义(P<0.05)。汉族人群中CHD患者8号染色体上8p23.3-p23.2、8q12.1区域可能存在CHD易感基因,需要进行候选基因突变筛查。     

广西壮族人群EBI3 基因rs6613A/T, rs4905A/G多态性分布特点

目的:分析广西壮族人群EBI3基因rs6613A/T、rs4905A/G多态性分布特点。方法:采用单碱基延伸的PCR技术对168例广西壮族人群EBI3 rs6613 A/T和EBI3 rs4905A/G进行多态性检测,对比国际人类基因组计划(Hap Map)公布的中国北京人、日本人、非洲人和意大利人的SNP分型数据,分析5个人群rs6613 A/T、rs4905A/G位点的基因型和等位基因频率差异。结果:在广西壮族人群中,EBI3基因rs6613 A/T位点AT基因型最常见,约为49.4%;T等位基因频率最高,约为52.1%;rs4905A/G多态性位点AC基因型最常见,约为48.2%;C等位基因频率最高,约为50.9%。EBI3基因型及等位基因频率分布于性别无显著相关性(P0.05)。广西壮族人群EBI3基因rs6613A/T位点基因型和等位基因频率与北京人差异无统计学意义(P0.05),但与非洲人、日本人、意大利人差异具有统计学意义(P0.05);EB-13基因rs4905A/G位点基因型和等位基因频率与北京人和日本人差异无统计学意义(P0.05),但与非洲人和意大利人比较差异具有统计学意义(P0.01)。结论:EBI3基因rs6613 A/T和EB-13 rs4905A/G多态性位点基因型和等位基因在广西壮族人群中的分布频率与其他种族和地区人群相比存在差异,这种差异可能是导致某些疾病在不同人群发病率和临床表现存在差异的原因之一。     

新疆维吾尔族自治区内不同地区维吾尔族人耵聍的遗传多态性

对新疆维吾尔族自治区内七个地区6592名汉族成年人(18-45岁)和5887名维吾尔族成年人(18-45岁)不同类型耵聍的表型频率进行了调查。结果显示,新疆维吾尔族自治区内不同地区汉族成年人不同类型耵聍的表型频率无显著差异(P0.05),与我国北方汉族相同。维吾尔族成年人湿型耵聍有较高的频率,平均为58.13%,介于欧罗巴人种和北亚蒙古人种之间。同一地区内,维吾尔族男性和女性间湿型耵聍频率无显著差异(P0.05),不同地区维吾尔族人群之间湿型耵聍频率有极显著差异(P0.001)。湿型耵聍频率最低为东部的哈密市(40.99%),最高为西部的喀什市(88.53%),且呈从东到西逐渐增加的趋势。新疆地区的维吾尔族人群的耵聍类型表型频率呈现一定的多态性,某一地区的耵聍类型表型频率不能代表全体维吾尔族。维吾尔族耵聍不同类型的表型频率介于欧罗巴人种和北亚蒙古人种之间的特点可能有助于揭示现代维吾尔族的族源、人种构成、人种特点及演化过程。     

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。     

马拉色菌相关人群及正常人群耳耵聍中马拉色菌带菌情况的调查

目的调查马拉色菌相关人群及正常人群耳耵聍中马拉色菌带菌情况。方法用结晶紫染色法对96例被调查人群耳耵聍进行马拉色菌检测,同时作培养,并以标准株作对照,用生理生化方法将耵聍中分离到的79株马拉色菌进行分类。结果马拉色菌相关人群耳耵聍中马拉色菌的直接检出率为91．84％（45／49）,培养阳性率为81．63％（40／49）,其中厚皮马拉色菌8株（16．33％）,合轴马拉色菌10株（20．41％）,糠秕马拉色菌22株（44．90％）。正常人群耳耵聍马拉色菌直接检出率为89．36％（42／47）,培养阳性率为78．72％（37／47）,其中厚皮马拉色菌5株（10．64％）,合轴马拉色菌8株（17．02％）,糠秕马拉色菌23株（48．93％）,斯洛菲马拉色菌1株（2．13％）。结论马拉色菌为正常人群及马拉色菌相关人群外耳道正常菌群,两组人群中马拉色菌的分离率和菌种分布无显著性差异。     

云南“本人”的红细胞血型分布及其与契丹人血缘关系的探讨

调查了云南省施甸县木老元乡哈寨村１０４名“本人”的４个细胞血型系统分布。结果表明,“本人”的ＡＢＯ血型系统分布特点是,基因频率ｐ（０．３０６９）〉基因频率ｑ（０．１７３９）;在ＭＮＳｓ血型系统中,基因频率ｍ（０．６５３８）〉基因频率ｎ（０．３４６２）;在Ｐ血型系统中,基因频率Ｐ１（０．１７９８）较低。这些均与我国南方少数民族的分布特点基本相符。与我国大部分地区一样。Ｒｈ因型系统的单倍型频率中最高的     

我国东北地区3个群体DYS390多态位点的遗传学研究

目的　研究中国群体Y染色体微卫星位点 DYS390遗传多态性 ,可以用于追溯人类进化上的父系祖先 ,也可以为人类基因组和法医学等研究积累数据。方法　采用 PCR技术扩增微卫星DNA片段 ,再经变性凝胶电泳及银染方法 ,对我国东北地区汉族、蒙古族及朝鲜族 3个群体的1 0 2例男性个体的 DYS390位点的遗传多态性进行了研究。结果　除汉族群体发现 5种等位基因外 ,朝鲜族和蒙古族群体均检出 4种。在汉族群体中 ,我们检出 1例具223bp等位基因。等位基因频率分布在汉族、朝鲜族以211bp的频率为最高 ,分别为0.439和0.451 ;而蒙古族群体则以215bp的频率为最高 (0.433)。结论　 3个群体之间 DYS390位点等位基因频率无显著性差异 ( Fisher精确概率检验 :P=0.930 )。 3个群体中DYS390位点 5种等位基因的分化程度以223bp为最高 ,分化程度最低的为211bp。聚类分析表明3个群体的父系亲缘关系较为密切 ,其中以汉族与朝鲜族之间的遗传距离最近。     

Principal component analysis of gene frequencies of Chinese populations

Principal components (PCs) were calculated based on gene frequencies of 130 alleles at 38 loci in Chinese populations, and geographic PC maps were constructed. The first PC map of the Han shows the genetic difference between Southern and Northern Mongoloids, while the second PC indicates the gene flow between Caucasoid and Mongoloids. The first PC map of the Chinese ethnic minorities is similar to that of the second PC map of the Han, while their second PC map is similar to the first PC map of the Han. When calculating PC with the gene frequency data from both the Han and ethnic minorities, the first and second PC maps most resemble those of the ethnic minorities alone. The third and fourth PC maps of Chinese populations may reflect historical events that allowed the expansion of the populations in the highly civilized regions. A clear-cut boundary between Southern and Northern Mongoloids in the synthetic map of the Chinese populations was observed in the zone of the Yangtze River. We suggest that the ancestors of Southern and Northern Mongoloids had already separated before reaching Asia. The ancestors of the Southern Mongoloids may result from the initial expansion from Africa or the Middle East, via the south coast of Asia, toward Southeast Asia, and ultimately South China. Upon reaching the Yangtze River, they might even have crossed the river to occupy the nearby regions for a period of time. The ancestors of the Northern Mongoloids probably expanded from Africa via the Northern Pamirs, first went eastward, then towards the south to reach the Yangtze River. The expansion of the Northern Mongoloids toward the south of the Yangtze River happened only in the last 2 or 3 thousand years.     

Principal component analysis of gene frequencies of Chinese populations

Principal components (PCs) were calculated based on gene frequencies of 130 alleles at 38 loci in Chinese populations, and geographic PC maps were constructed. The first PC map of the Han shows the genetic difference between Southern and Northern Mongoloids, while the second PC indicates the gene flow between Caucasoid and Mongoloids. The first PC map of the Chinese ethnic minorities is similar to that of the second PC map of the Han, while their second PC map is similar to the first PC map of the Han. When calculating PC with the gene frequency data from both the Han and ethnic minorities, the first and second PC maps most resemble those of the ethnic minorities alone. The third and fourth PC maps of Chinese populations may reflect historical events that allowed the expansion of the populations in the highly civilized regions. A clear-cut boundary between Southern and Northern Mongoloids in the synthetic map of the Chinese populations was observed in the zone of the Yangtze River. We suggest that the a     

不同群体中ATXN2基因编码区CAG重复的变异研究

在中国6个生活环境差异较大的少数民族群体中进行ATXN2基因编码区CAG重复的变异研究,以衡量其是否受到正选择的作用以及寻找推动选择作用的因素。采集6个民族群体共291个健康无关个体,对其进行STR分型,直接计数其等位基因及等位基因型频率,计算其线性Fst值,构建针对该基因的系统进化树,并对各群体进行MDS分析。线性Fst值结果显示:回族和彝族群体间ATXN2基因STR位点进化的差异具有显著性,其他4个群体相互间无显著性差异。结合已报道的其他群体进一步分析,回族、哈尼族、云南蒙古族以及内蒙古自治区蒙古族每个人群都与日本人群有显著性差异;回族、内蒙古自治区蒙古族与汉族具有显著性差异。6个群体中ATXN2基因STR的等位基因频率有各自的分布特点,稀有等位基因频率变化产生的原因可能是选择作用的结果。     

Genetic geography of inherited dimorphism of ear wax by its consistency

Data on cerumen types were collected in three population groups of Pamir mountain region. The observed frequencies of dominant w and recessive d alleles which determine wet and dry types of ear wax are equal, accordingly: in Khuf population (Western Pamir) to 0.6603 and 0.3397; in Pastkhuff population (Western Pamir) to 0.6078 and 0.3922; in Kirghizes of Central Pamir to 0.3606 and 0.6394. We present data on cerumen types in 23 populations of the USSR also. The world information on distribution cerumen types was summed up (over 80 populations). No connection of gene frequencies of cerumen with natural abiotic factors of environment was revealed. Strong correlation of the genes described with mongoloid peculiarities was established: epicanthus r = 0.718, the haplotype Gmz, a, b, 0, 3, 5, s, t (Gm(1, 11, 13, 15, 16) r = 0.522.     

籽蒿的地理分布与遗传分化

 对籽蒿(Artemisia sphaerocephala)的分布地点进行了调查,发现了籽蒿在浑善达克沙地的新分布, 绘制了籽蒿的分布图。在籽蒿集中分布的地区取了5个种群,新分布点取了一个种群,利用随机扩增多态性DNA（RAPD）方法进行了遗传分化的研究。15个引物共扩增出255条带,其中多态带232条,多态位点百分率为91%。各种群以乌海流动沙地种群最低, 多态位点百分率为66.7%, 沙坡头种群最高,多态位点百分率为83.4%。籽蒿种群间有着一定的遗传分化,遗传分化系数（Gst）为0.234 8, 表明76.52%的遗传变异存在于种群内。聚类分析显示,籽蒿种群之间的遗传距离与地理距离有着一定的相关性。而相隔很远的浑善达克沙地的锡林浩特种群与毛乌素沙地的榆林种群间的遗传距离较小,且被聚到了一起,表明两个草原区沙地籽蒿种群间的关系密切。     

The geographic polymorphisms of Y chromosome at YAP locus among 25 ethnic groups in Yunnan,China

The genetic polymorphisms of Y chromosome at YAP locus in 25 ethnic groups (33 populations) of China were analyzed in a total of 1294 samples. The average YAP+ frequency of the 33 populations was 9.2%, coinciding with published data of Chinese populations. Primi has the highest YAP+ frequency (72.3%), which is also the highest YAP+ among all the eastern Asian populations studied. The YAP+ occurred in 17 populations studied including Tibetan (36.0%), Naxi (37.5% and 25.5%), Zhuang (21.3%), Jingpo (12.5%), Miao (11.8%), Dai (11.4%, 10.0%, 3.3% and 2.0%), Yi (8.0%), Bai of Yunnan (6.7% and 6.0%), Mongol of Inner Mongolia (4.3%), Tujia of Hunan (2.6%), Yao (2.2%) and Nu (1.8%). The other 15 populations are YAP-including Lahu (2 populations), Hani, Achang, Drung, Lisu, Sui, Bouyei, Va, Bulang, Deang, Man and Hui and Mongol of Yunnan and Bai of Hunan. The YAP+ frequencies varied among the different ethnic groups studied, and even different among the same ethnic group living in different geographic locations. Using the genetic information, combined with the knowledge of ethnology, history and archaeology, the origin and prehistoric migrations of the ethnic groups in China, especially in Yunnan Province were discussed.     

The geographic polymorphisms of Y chromosome at YAP locus among 25 ethnic groups in Yunnan, China

Little is known of the origin and the earliest migratory routes of the eastern Asia populations. Many researchers suggested that modern humans in eastern Asia originated from Africa[1,2], and the migratory routes spread from western to eastern Asia along southern mainland of Asia[3]. Eastern Asia was one of the few regions with relatively abundant hominid fossils, especially Yun-nan Province of China, the home of Ramapithecus and Yuanmou Man. Yuanmou Man was the oldest hominid fossil[4]. …     

Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans

We have analyzed eight Y-chromosomal binary markers (YAP, RPS4Y₇₁₁, M9, M175, LINE1, SRY₊₄₆₅, 47z, and M95) and three Y-STR markers (DYS390, DYS391, and DYS393) in 738 males from 11 ethnic groups in east Asia in order to study the male lineage history of Korea. Haplogroup DE-YAP was found at a high frequency only in Japan but was also present at low frequencies in northeast Asia, including 2.5% in Korea, suggesting a northern origin for these chromosomes. Haplogroup C-RPS4Y₇₁₁ was present in Korea and Manchuria at moderate frequencies: higher than in populations from southeast Asia, but lower than those in the northeast, which may imply a northern Asian expansion of these lineages, perhaps from Mongolia or Siberia. The major Y-chromosomal expansions in east Asia were those of haplogroup O-M175 (and its sublineages). This haplogroup is likely to have originated in southern east Asia and subsequently expanded to all of east Asia. The moderate frequency of one sublineage in the Koreans, haplogroup O-LINE1 (12.5%), could be a result of interaction with Chinese populations. The age of another sublineage, haplogroup O-SRY₊₄₆₅, and Y-STR haplotype diversity provide evidence for relatively recent male migration, originally from China, through Korea into Japan. In conclusion, the distribution pattern of Y-chromosomal haplogroups reveals the complex origin of the Koreans, resulting from genetic contributions involving the northern Asian settlement and range expansions mostly from southern-to-northern China.