在我国裕固族中首次发现一例Hb沈阳

Hb沈阳是1982年在我国汉族中发现的一种新的不稳定血红蛋白。1986年作者在“丝绸之路”地 区进行血红蛋白群体普查时，发现一例裕固族泳速相当于J组的异常Hb，经一级结构分析表明为。链 第26位丙氨酸被谷氨酸取代，证实此例变异体为Hb沈阳〔a,,(B7)Ala-aGlu」在裕周族中系首次报 告。根据现有Hb沈阳的分布状况及有关资料，作者分析这种异常Hb基因可能源于我国。     

新疆蒙古族、锡伯族新生儿HbF中~Gγ/~Aγ、~Aγ~I/~Aγ~T比值测定及基因图谱分析

用HPLC法测定新疆蒙古族78例、锡伯族60例新生儿胎儿血红蛋白（HbF）中Gγ／Aγ以及AγI／AγI比值。％Gγ均值为：蒙古族73.99％,锡伯族74.59％。％GγI均值分别为蒙古族56.04％和锡伯族64.33％。在蒙古族中发现AγT纯合体4例、杂合作12例;锡伯族中发现AγT杂合体6例。蒙古族中AγT基因频率（ρAγT）为0.128,锡伯族为0.05     

中国“丝绸之路”地区血红蛋白病的遗传流行病学特点

对“丝绸之路“沿线陕、甘、新等省区的22万余人进行了血红蛋白病调查,应用蛋白质一级结构分析技术,从271例异常血红蛋白先证者中,发现变异体24种,以HbD Punjab、HbG TaiPei、HbG Coushatta 频率较高,呈梯度分布,其中HbJ Tashikuergan和Hb Tianshui 为世界新种异常血红蛋白。采用基因鉴定技术,于85例β地中海贫血携带者中,确定基因突变类型12种,以CD17（A→T）频率最高,其中[-28(A→G）.CD17(A→T）/N]双重突变杂合子,为同一染色体上的双重基因突变。极为罕见,CD8（－AA）、CDs8/9( G）为中国人中首次发现。根据“丝绸之路”地区异常血红蛋白和地中海贫血的类型特点、地理及民族分布规律,本文认为①我国西北部民族主要由中亚高加索人,黄河流域汉族人和蒙古高原的古代游牧民族组成。②β地贫CD17突变基因可能起源于甘肃的陇原大地,随华人迁徙传入东南亚各地。③该地遗传背景复杂,突变基因具有高度的异质性,存在显著的遗传流行病学特点。     

中国人ABO血型分泌型岩藻糖转移酶基因多态性研究

编码分泌型α（1,2）－岩藻糖转移酶（FUT2）的基因（Se)具有广泛的多态性和种族特异性,因而目前成为人类群体遗传学研究的重要指标,对191个满族和208个蒙古族两个人群融合突变基因的分布频率进行了调查,同时对90个蒙古族及90个山东荣成汉族样本的FUT2基因的多态性进行了分析。结果表明,满族和蒙古族两个人群近400名个体中没有发现FUT2融合突变基因（fusion gene),山东荣成汉族及内蒙古族人群中G849A点突变的分布频率极低,仅为0．0055。     

新疆哈萨克族,维吾尔族和蒙古族头面部观察特征比较

对新疆伊犁的哈萨克族５５１人,维吾尔族５２７人和蒙古族５３３人的头面部３０项指标进行了活体观察和比较。他们既有许多相似之处又有各自不同的特点,哈萨克族与蒙古族在许多方面较为相似,哈萨克族与维吾尔族,蒙古族与维吾尔族也有相似的特征。     

NRAMP1基因3′UTR多态性与新疆哈萨克族结核病易感性的研究

为了研究人类自然抵抗相关巨噬细胞蛋白NRAMP1基因3′UTR多态性与新疆哈萨克族结核病易感性的关系,研究选取新疆哈萨克族活动性结核病患者213例,新疆哈萨克族正常对照者211人,用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)分析的方法对NRAMP1基因3′UTR多态性进行基因分型,比较不同基因型及等位基因的频率,经统计学分析,探讨NRAMP1基因3′UTR多态性与新疆哈萨克族结核病易感性的关系.结果显示,在新疆哈萨克族活动性结核病患者组中NRAMP1基因3′UTR TGTG+/TGTG+基因型138例(64.8%),TGTG+/del基因型63例(29.6%),del/del基因型12例(5.6%);新疆哈萨克族正常对照组TGTG+/TGTG+基因型则为167例(79.1%),TGTG+/del基因型41例(19.5%),del/del基因型3例(1.4%).新疆哈萨克族结核病患者组TGTG+/del基因型和del/del基因型频率明显高于新疆哈萨克族正常对照组,差异有统计学意义(χ2=10.8,P0.01);在新疆哈萨克族结核病患者组的TGTG+等位基因频率为79.6%,del等位基因频率为20.4%,新疆哈萨克族正常对照组中TGTG+和del等位基因频率分别为88.9%和11.1%,del等位基因在新疆哈萨克族结核病患者组中的分布频率高,差异有统计学意义(χ2=13.7,P0.01).研究结果提示TGTG缺失等位基因可能是新疆哈萨克族结核病的易感基因,携带TGTG+/del和del/del基因型的新疆哈萨克族人群可能更易患结核病.     

新疆哈萨克族脑梗塞与ICAM-1基因G241R多态性的关系

目的：探讨新疆哈萨克族脑梗死与细胞黏附分子1（ICAM-1）G241R基因多态性的关系。方法：采用多聚酶链式反应法及限制性内切酶片段长度多态性技术,对新疆哈萨克族100例脑梗死患者及110例健康者（对照组）进行ICAM-1基因G241R多态性检测,比较不同基因型与哈萨克族脑梗塞发病风险的关系。结果：脑梗塞患者ICAM-1基因G41R多态性的基因型频率和等位基因频率与健康对照组相比无明显差异。结论：ICAM-1基因G214R多态性可能不是新疆哈萨克族脑梗塞发病的遗传学危险因素。     

新疆哈萨克族脑梗塞与ICAM-1 基因G241R 多态性的关系

目的:探讨新疆哈萨克族脑梗死与细胞黏附分子1(ICAM-1)G241R基因多态性的关系。方法:采用多聚酶链式反应法及限制性内切酶片段长度多态性技术,对新疆哈萨克族100例脑梗死患者及110例健康者(对照组)进行ICAM-1基因G241R多态性检测,比较不同基因型与哈萨克族脑梗塞发病风险的关系。结果:脑梗塞患者ICAM-1基因G41R多态性的基因型频率和等位基因频率与健康对照组相比无明显差异。结论:ICAM-1基因G214R多态性可能不是新疆哈萨克族脑梗塞发病的遗传学危险因素。     

新疆伊犁锡伯族和蒙古族的苯硫脲尝味能力测定

用阈值法对新疆伊犁的锡伯族1121人和蒙古族679人的苯硫脲尝味能力进行了测定,结果表明,锡伯族中味盲率为19.98％,味盲基因频率为0.4470,平均尝味阈值为8.53±1.25;蒙古族中味盲率为15.17％,味盲基因频率为0.3895,平均尝味阈值为8.10±1.49。味盲率、平均尝味阈值和味盲基因频率在锡伯族男女间无明显差异(P>0.05),而在蒙古族中,味盲率与味盲基因频率分布男女间差异显著(P<0.01)。在上述这两个民族中,少年组的味盲率高于成年组。对同一受试者的ABO血型与卷舌能力也进行了观察和分析。     

新疆维、哈、蒙古族-HTT基因启动子区多态性的研究

采用聚合酶链反应(PCR)技术,对我国新疆维吾尔族、哈萨克族和蒙古族三个正常群体5-HTT基因启动子区(5-HTTLPR)的一个插入/缺失多态性进行了研究。结果显示:5-HTTLPR等位基因及基因型频率分布在三个民族中没有较大差异,短片段等位基因S有较高的分布频率。X2检验证明,三个民族群体的基因型分布均符合Hardy-Weinberg平衡(P>0.05)。经分析,维吾尔族的观测杂合度(Hobs)、期望杂合度(Hexp)、多态信息量(PIC)分别为0.4167、0.4845和0.3759;哈萨克族的Hobs、Hexp和PIC分别为0.4141、0.4338和0.3396;蒙古族的Hobs、Hexp和PIC分别为0.4639、0.4386和0.3425。结果可为人类学、法医学鉴定及疾病的关联研究提供遗传学数据。     

中国新疆柳叶藓科、青藓科和灰藓科植物区系研究

通过对新疆柳叶藓科(Amblystegiaceae)、青藓科(Brachytheciaceae)和灰藓科(Hypnaceae)植物标本的野外采集和室内鉴定,报道了中国新疆地区柳叶藓科15属33种,青藓科12属51种,灰藓科11属30种,共计38属114种。其中,中国青藓科新记录种2种,新疆新记录4属37种。优势属10个,且以青藓属(Brachythecium BrushSchimp.)为代表的北温带成分为主;单种属19个,体现了新疆藓类植物区系的古老性和多样性。新疆3科藓类植物区系成分可划分为9种类型,其中北温带成分居主导地位,占中国新疆3科藓类植物总种数的52.08%,东亚成分次之,占25.01%,热带成分甚微。对中国新疆与中国内蒙古、中国西藏以及俄罗斯、蒙古、哈萨克斯坦、巴基斯坦和印度7个邻近地区的区系比较发现,印度物种丰富度最高,俄罗斯和中国新疆次之;中国新疆与中国内蒙古、俄罗斯在物种组成上相似度最高。地理成分区系谱及聚类分析结果表明,中国新疆与中国内蒙古地区的植物区系关系最为接近,而且与俄罗斯密切相关。     

Prevalence of primary adult lactose malabsorption in three populations of northern China

Summary Lactose absorption capacity was examined in 641 apparently healthy adolescents and adults (447 males and 194 females with an average age of 22.9 years and an age range of 16–46 years) using a field version of the lactose tolerance test with breath hydrogen determination. In the total sample, 89 lactose absorbers and 552 lactose malabsorbers were identified. Lactose malabsorption was most frequent in a subgroup of Han (Chinese) from northeastern China (229 of 248 subjects, 92.3%). Among 198 Mongols from Inner Mongolia, there were 174 lactose malabsorbers (87.9%). The frequency of lactose malabsorption was lowest in a group of Kazakhs, traditional herders from the northwestern region of Xinjiang (149 of 195 subjects, 76.4%). Reported symptoms of lactose intolerance were significantly more frequent in lactose malabsorbers. The findings in northern Han are similar to the reported lactose malabsorption frequency in southern (mainly overseas) Chinese, and correspond with the absence of animal milk from traditional Chinese diets. The relatively low prevalence of lactose malabsorption among the Kazakhs suggests that lactose persistence may be frequent in herding pastoralist populations of southwest Asia.     

Distribution and status of bustards in China

This article presents the distribution and status of bustards, which are listed as first-category protected animals according to the survey results during 1990-2002 in China. The Chinese populations of Otis tarda dybowskii are breeding in south-west of Heilongjiang Province, west-ern Jilin Province, east and middle Inner Mongolia, north Ningxia Hui Autonomous Region, and Gansu Province. A few can winter in the south breeding-range. Its winter-range lies from the south to the Yellow River, as far as to Guizhou Province and Jiangxi Province. Its population number is about 200-300 or 500-800. The Chinese popula-tions of O. t. tarda are breeding in the north and west of Xinjiang. It is unclear about its winter-range, which is pre-sumed to be in south Asia. Recently we found individuals wintering in Chabuchaer and west Xinjiang. The popu-lation number is about 2000-3000. The habitat in breeding range includes steppe, grassland, desert grassland, and farmland. The habitat in winter range is the beach of rivers and lakes, meadows, meadow-grassland, and wheatland. The Chinese populations of Chlamydotis undulata mac-queeni are breeding in the fringe of the Jungar Basin, the banks of the Ulungur River, Balikun and south Turpan Basin in Xinjiang, west Inner Mongolia, and west Gansu. Northeast Mulei in eastern Jungar Basin of Xinjiang is the main breeding-range in the world. The bird uses desert and desert grassland as its habitat. Its winter-range is west Asia and south Asia. Its population number is about 2000. The Chinese populations of Tetrax tetrax are breeding in north Xinjiang, and China is located on the east border of its breeding-range. Its habitat is grassland and semi-desert, and its winter-range lies in south Asia. Its population in China is very scarce. In addition, we analyzed the causes of their endangerment and put forward protection tactics of Chinese Bustards.     

Molecular phylogeography of the red deer (Cervus elaphus) populations in Xinjiang of China: comparison with other Asian,European, and North American populations

To illustrate phylogeography of red deer (Cervus elaphus) populations of Xinjiang, we determined their mitochondrial DNA (mtDNA) control region sequences, and then investigated geographic variations and phylogenetic relationships between Xinjiang populations and other populations from Asia, Europe, and North America. The C. elaphus mtDNA control region shared different copy numbers of tandem repeats of 38 to 43-bp motifs which clearly distinguished the Western lineage from the Eastern lineage of this species in Eurasia. The western lineage comprised the Tarim populations from southern Xinjiang and the European populations, all of which had four copies of the motifs. By contrast, the Eastern lineage consisted of populations from northern Xinjiang (Tianshan and Altai Mountains), other Asian areas (Alashan, Gansu, Tibet, Mongolia, and northeastern China), and North America, all of which shared six copies of the motifs. MtDNA phylogenetic trees showed that there are two major clusters of haplotypes which referred to the Western and Eastern lineages, and that subgroupings of haplotypes in each cluster were congruent with their geographic distributions. The present study revealed that a boundary separating the Western lineage from the Eastern lineage occurs between Tarim Basin and Tianshan Mountains in Xinjiang. Meanwhile, North American populations were genetically closer to those of northern Xinjiang, northeastern China, and Mongolia, supporting that C. elaphus immigrated from northeastern Eurasia to North America through the glacier-induced land-bridge (Beringia) which had formed between the two continents after Late Pleistocene.     

黄耆属簇毛黄耆亚属生物地理学研究

簇毛黄耆亚属的种类主要沿亚洲的“山链”分布,即横断山,喜马拉雅,查谟和克什米尔,帕米尔—阿赖,兴都库什和苏莱曼山脉,表达了东亚、西亚和中亚的植物区系地理关系。本文基于亚属的分布式样,对其8个分布区进行了分析生物地理学中的成分分析。结果表明,这8个分布区可划分为4类,即1)华北—东北;2)横断山和西藏;3)西喜马拉雅,西巴基斯坦,塔吉克斯坦;4)内蒙古—新疆。在本亚属的分布式样中,有两个地理“结点”,即横断山和西喜马拉雅,后者主要指克什米尔。推断地理上的衍进方向是由东向西发展,喜马拉雅是连接东西分布的通道。     

Distribution and status of bustards in China

This article presents the distribution and status of bustards, which are listed as first-category protected animals according to the survey results during 1990–2002 in China. The Chinese populations of Otis tarda dybowskii are breeding in south-west of Heilongjiang Province, western Jilin Province, east and middle Inner Mongolia, north Ningxia Hui Autonomous Region, and Gansu Province. A few can winter in the south breeding-range. Its winter-range lies from the south to the Yellow River, as far as to Guizhou Province and Jiangxi Province. Its population number is about 200–300 or 500–800. The Chinese populations of O. t. tarda are breeding in the north and west of Xinjiang. It is unclear about its winter-range, which is presumed to be in south Asia. Recently we found individuals wintering in Chabuchaer and west Xinjiang. The population number is about 2000–3000. The habitat in breeding range includes steppe, grassland, desert grassland, and farmland. The habitat in winter range is the beach of rivers and lakes, meadows, meadow-grassland, and wheatland. The Chinese populations of Chlamydotis undulata macqueeni are breeding in the fringe of the Jungar Basin, the banks of the Ulungur River, Balikun and south Turpan Basin in Xinjiang, west Inner Mongolia, and west Gansu. NortheastMulei in eastern Jungar Basin of Xinjiang is the main breeding-range in the world. The bird uses desert and desert grassland as its habitat. Its winter-range is west Asia and south Asia. Its population number is about 2000. The Chinese populations of Tetrax tetrax are breeding in north Xinjiang, and China is located on the east border of its breeding-range. Its habitat is grassland and semi-desert, and its winter-range lies in south Asia. Its population in China is very scarce. In addition, we analyzed the causes of their endangerment and put forward protection tactics of Chinese Bustards. __________ Translated from Arid Zone Research, 2007, 24(2): 179–186 [译自: 干旱区研究]     

中国九个人群耵聍的遗传多态性

报道了九个人群的耵聍位点基因。计算表明中国各族人群在耵聍位点上的遗传分化程度非常大,固定指数F_(ST)=0.22。本文根据耵聍基因频率在我国和邻近地区的分布趋势,认为亚洲东北地区应是干型基因的起源地,目前世界上耵聍位点基因频率分布格局主要是基因扩散的结果,而非选择作用造成的。     

Brief communication: Y-chromosome haplogroup analysis indicates that Chinese Tuvans share distinctive affinity with Siberian Tuvans

Tuvans are mainly distributed in Siberia (the Republic of Tuva), Mongolia, and China. The genetic origin of Chinese Tuvans remains controversial. The Tuvans in China were classified as Mongolians in the early 1950s by the National Ethnic Affairs Commission of China, but they defined themselves as a separate group. To resolve this dispute and determine their genetic relationships with the peoples in Central Asia, we randomly selected 150 male subjects from the Tuvans in the Altai region of Xinjiang Uygur Autonomous Region in China. Fourteen Y chromosomal markers were genotyped using the RFLP method or direct sequencing. These haplogroup data were combined with public data for 15 populations in South Siberia and Central Asia. Tuvans in both China and the Republic of Tuva had the highest frequencies of haplogroups K-M9 and Q-M242. Principal component analysis demonstrated that the Tuvans in China were of a distinct cluster, separated from their neighbors, the Mongolians and Kazakhs, which finding was consistent with the Analysis of Molecular Variances. Further population tree analysis revealed that Tuvans were on a far-separated cluster from their neighbors. Based on these results, we propose that the Tuvans (in both China and the Republic of Tuva) constitute a group distinct from Mongolians and from other Central Asia populations. However, the genetic results might be the consequence of some evolutionary forces like genetic drift and founder effect, and do not necessarily reflect their ultimate origin.     

Dental morphology of the Dawenkou Neolithic population in North China: implications for the origin and distribution of Sinodonty

We compare the incidence of 25 nonmetric dental traits of the people of the Neolithic Dawenkou culture (6300-4500 BP) sites in Shandong Province, North China with those of other East Asian populations. The Dawenkou teeth had an overwhelmingly greater resemblance to the Sinodont pattern typical of Northeast Asia than to the Sundadont pattern typical of Southeast Asia. Multidimensional scaling using Smith's mean measure of divergence (MMD) statistic place the Dawenkou sample near the Amur and the North China-Mongolia populations in the area of the plot indicating typical Sinodonty. The existence of the Sinodont population in Neolithic North China suggests a possible continuity of Sinodonty from the Upper Cave population at Zhoukoudian (about 34000-10000 BP) to the modern North Chinese. The presence of Sinodonty in Shandong Province shows that the Japan Sea and East China Sea were strong barriers to gene flow for at least 3000 years, because at this time the Jomonese of Japan were fully Sundadont. In addition, we suggest that the descendants of the Dawenkou population cannot be excluded as one of the source populations that contributed to sinodontification in Japan.     

基于线粒体细胞色素b基因的中国大沙鼠系统地理格局

通过内蒙、新疆、甘肃的41个大沙鼠样品和1个伊朗撒拉克大沙鼠的mtDNA Cytb基因全序列的遗传分析,对我国大沙鼠(Rhombomys opimus)的分子系统地理学进行了初步探讨。结果表明,我国41个大沙鼠样品的Cytb基因包含了50个核苷酸变异位点(占全序列的4.39%),其中转换48个,颠换2个,共定义23个单倍型。在四个地理种群中,内蒙古中部半荒漠区和阿拉善荒漠区的单倍型多样性最高,甘新荒漠区的单倍型多样性最低;北疆荒漠区的核苷酸多样性最高,内蒙古中部半荒漠区的核苷酸多样性最低。分子变异分析(AMOVA)表明,种群间的遗传变异占51.68%,种群内的遗传变异占48.32%。FST统计结果表明,除内蒙古中部半荒漠区与阿拉善荒漠区地理种群之间差异显著外(P<0.05),其它地理种群间的差异均极显著(P<0.01)。基于单倍型的系统树显示,42只大沙鼠形成三支。其中,伊朗撒拉克地区大沙鼠和中国地区大沙鼠之间的亲缘关系比中国两支大沙鼠之间的亲缘关系远;分析表明,中国分布的大沙鼠两支之间分歧时间估计在0.093Ma前。嵌套支分析表明,大沙鼠历史种群曾发生过异域片段化、受阻碍基因流和持续种群扩张事件。种群扩张分析提示大沙鼠在0.0119Ma前曾经历过一次种群扩张事件,种群可能受到末次冰期波动的影响。