Estimates of global research productivity in virology

The quantity and quality of published research in the field of Virology by different world regions was estimated in this study. Using the PubMed database, articles from journals included in the "Virology" category of the "Journal Citation Reports" database of the Institute for Scientific Information for the period 1995-2003 were retrieved. The world was divided into nine regions based on geographic, economic, and scientific criteria. Data on the country of origin of the research was available for 33,425 out of 33,712 articles (99.2% of all articles from the included journals). USA exceeds all other world regions in research production for the period studied (42% of total articles), with Western Europe ranking second (35.7%). The mean impact factor in articles published in Virology journals was highest for the USA (4.60), while it was 3.90 for Western Europe and 3.22 for the rest of the world (seven regions combined). USA and Canada ranked first in research productivity when both gross national income per capita (GNIPC) and population were taken into account. The results of this analysis show a distressing fact; the absolute and relative production of research in the field of Virology by the developing regions is very low, although viral diseases cause considerable morbidity and mortality in these areas. It is evident from this study that developing regions need more help from the developed regions to enhance research infrastructure.     

Polymorphism of the ABO blood group genes in Han, Kazak and Uygur populations in the Silk Route of northwestern China

Genetic polymorphism in the ABO blood group gene of Han, Kazak and Uygur populations inhabiting the most northwestern part of China was investigated using polymerase chain reaction-based techniques. The present study enrolled 43 healthy unrelated Han, 37 Kazak and 59 Uygur volunteers. The allele in A1 blood group is distinguished A0101 and A0102 in difference of nucleotide position 467. The A0101 allele is more frequent in Caucasian and the A0102 allele is characteristic in Mongoloid. It must be notable that A0201 in the A2 group (with a single base deletion at nucleotides 1059 to 1061) which was characteristic of Caucasian was observed in Kazak and Uygur populations but not in Han. Further, 00201 (with no nucleotide deletion at 261 and three nucleotide differences), which is frequent in different races including Caucasian except for Mongoloid, was detected also in Kazak and Uygur populations. The frequencies of B0101 in Kazak, Uygur and Han were comparable to those of other Asian populations but higher than those of Caucasian populations. Collectively, these results reveal that the allele frequencies of Kazak and Uygur at the ABO blood group locus are an intermediate between those of Mongoloid and Caucasian, suggesting the admixed feature of Kazak and Uygur with Mongoloid and Caucasian.     

Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec

Familial lipoprotein lipase deficiency (FLD) is of particular interest to the French Canadian population of Québec since the largest concentration of homozygotes and carriers of this genetic disease in the world resides in this area. We have previously described a missense mutation (M-188) in the lipoprotein lipase (LPL) gene which was present in FLD patients belonging to different ancestries, including a number of French Canadians (Monsalve MV et al. J Clin Invest 1990: 86: 728-734). In the present report, we show that this mutation, although found in largest absolute numbers among French Canadians as compared to other groups in the world, accounts for only a small proportion (24%) of all the LPL mutant alleles in this population. The M-188 occurs either in the homozygote state or as a compound heterozygote with another LPL mutation. Analysis of geographic distribution indicates that the M-188 is more prevalent in western Québec, with the highest carrier rate in the Mauricie region. Genealogical reconstruction leads to the recognition of four founders for M-188, all emigrants from France to Québec in the 17th century.     

一般人群中人格维度与心身症状的相关研究

目的：探讨在健康人群中稳定的人格特点与某一时期心身症状的测量之间的关系。方法：对721名被试施测人格量表（QZPS）和SCL-90，通过回归和相关分析探讨两者之间的关系。结果：严谨、沉稳、决断、淡泊和情绪性等人格因素与SCL-90的因子分数正相关，其它人格因素则与SCL-90的因子分数负相关。控制人格因素间的相关之后，进入每个预测心身症状回归方程的人格因素分别为3-5个,其中严谨、自制、沉稳、重感情和热情的回归系数是正值，其它为负值，表明行事严谨、自我克制以及对人热情和重感情等人格特点与心身症状的出现是一致的。结论：人格维度对心身症状有一定的预测能力。     

中国人群DXS102座位多态性鉴定及其应用

目的探讨中国人群中ＤＸＳ１０２座位的多态分布。方法应用ＰＣＲ扩增片段长度多态性（Ａｍｐ－ＦＬＰ）研究了无亲缘关系的２３４条Ｘ染色体。结果ＤＸＳ１０２座位等位片段有８个，核心单元ＡＣ二核苷酸重复数为１３～２１，频率分布在０．０１３～０．１５６之间，杂合度观察值和无偏估测值分别为０．８７和０．８０，多态信息含量（ＰＩＣ）０．８０，女性基因型数为２２个，男性基因型数为８个，该座位多态分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。ＤＸＳ１０２座位在中国人群和欧洲人群的分布有明显的种族差异，在中国人群中发现了两个新的等位片段。应用ＤＸＳ１０２座位的短串联重复序列多态性对一接受基因治疗的血友病Ｂ家系进行分析和携带者筛查。结论ＤＸＳ１０２座位连锁分析有望成为一种有效的血友病Ｂ基因诊断的方法。     

云南省傣族G6PD一个家系的突变型研究

在调查云南少数民族Ｇ６ＰＤ缺乏症时，采用Ｇ６ＰＤ硝基四氮唑蓝纸片法筛查，按ＷＨＯ标准化方法进行生化变异型鉴定，再用错配碱基ＰＣＲ引入酶切位点法进行ＤＮＡ突变型研究，首次在傣族中发现Ｇ６ＰＤｃＤＮＡ突变型：１３８８Ｇ→Ａ。     

Novel single nucleotide polymorphisms of the human nuclear factor kappa-B 2 gene identified by sequencing the entire gene

The nuclear factor kappa-B 2 (NFKB2) gene is a member of the NFKB/Rel gene family, which is known to be a pivotal regulator of the acute phase of the inflammatory response and of immune responses. We identified three novel single nucleotide polymorphisms (SNPs) and determined their allelic frequencies, as determined by the sequencing of 48 alleles of the entire gene in a Japanese population sample. Two of the three polymorphisms were identified at nucleotide (nt) position 1837 (T/C) and nt position, 1867 (GG/G) in the upstream region of the gene. The other polymorphism was identified at nt position 2584 (G/T) within intron 1. These polymorphisms will be useful in genetic studies of the processes involved in inflammatory responses and in bone differentiation. Received: October 17, 2000 / Accepted: October 23, 2000     

用分子克隆技术构建D12S391基因座等位基因分型标准物及群体遗传学研究

目的 解决长期困扰短串联重复序列（short tandem repeat,STR）分型上存在的准确性和标准化问题。方法 先用PCR扩增出D12S391基因座的9个等位基因片段，将其插入pUC重组质粒中，经DNA测序分析证实插入片段的结构及大小，用国际标准将插入的等位基因片段进行命名，最后经转染、扩大培养、扩增及再鉴定后，制备出标准的D12S391等位基因分型标准物。结果 应用此法制备出大量的D12S391基因座等位基因分型标准物，并将其用于调查该基因座在德国Mainz地区、日本Miyazaki地区及中国成都汉族、北京汉族、新疆维吾尔族和甘肃回族6个群体中的基因型分布频率。D12S391基因座在各群体中均有较高的多态性，其非父排除概念及个人识别能力分别为0.609-0.786和0.940-0.952。结论 该法制备的STR基因座等位基因分型标准物在法医科学实践中应用价值极高，D12S391基因座是一个非常适合于群体遗传学研究和法医科学应用的遗传标记。     

Frequency and ethnic distribution of the common DHCR7 mutation in Smith‐Lemli‐Opitz syndrome

Smith‐Lemli‐Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3β‐hydroxysterol‐Δ⁷‐reductase (DHCR7). SLOS is thought to be most common among European Caucasians, with an incidence of 1 in 20,000 to 1 in 30,000 births. To define the carrier rate and ethnic distribution of SLOS, we screened DNA samples from 2,978 unrelated individuals for the most common SLOS mutation (IVS8‐1G→C). Twenty‐four heterozygotes of the IVS8‐1G→C mutation were detected in 2,978 individuals of European Caucasian and Black backgrounds. For European Caucasians, the carrier rate for SLOS may be as high as 1 in 30, suggesting an incidence of 1 in 1,700 to 1 in 13,400. This high number is supported by the recent observation of newborn and prenatal incidence of 1 in 22,000 in the Caucasian population. Ours is the first report of the IVS8‐1G→C mutation in persons of African ancestry. Published 2001 Wiley‐Liss, Inc.