中国鄂温克、鄂伦春、达斡尔族永生细胞系的建立与保存

本采用ＥＢＶ（Ｅｐｓｔｅｉｎ－Ｂａｒｒ Ｖｉｒｕｓ）上清液转化Ｂ淋巴细胞,并加入环胞霉素Ａ（Ｃｙｃｌｏｓｐｏｒｉｎｅ Ａ）抑制Ｔ淋巴细胞,成功地对中国东北地区鄂温克族、鄂伦春族及达斡尔族的部分个体建立了永生细胞系,其中鄂温克族４９株,鄂伦春族４０株,达斡尔族５１例,总计１４０株。永久保存我国特有民族的基因组,为分析其遗传学差异奠定了基础。     

中国鄂温克、鄂伦春、达斡尔族永生细胞系的建立与保存

本文采用EBV（Epstein?Barr Virus）上清液转化B淋巴细胞,并加入环胞霉素A（Cyclosporine A）抑制T淋巴细胞,成功地对中国东北地区鄂温克族、鄂伦春族及达斡尔族的部分个体建立了永生细胞系,其中鄂温克族49株,鄂伦春族40株,达斡尔族51株,总计140株。永久保存我国特有民族的基因组,为分析其遗传学差异奠定了基础。 Abstract：The immortal lymphoblastoid cell lines were established by EBV transformation of B cells and addition of cyclosporin A to inhabit the activity of T cells.In the present study ,140 immortal cell lines of the Ewenki,the Oroqen and the Daur ethnic groups in the Northeast China were established .This is an important part of the research of human genome diversity for the exploration of the origin and progression of different ethnic groups ,and also provide enough research materials for further studies.     

内蒙古鄂伦春、鄂温克、达斡尔族人三种酶型遗传多态性分析

用同步电泳分型的方法,对中国内蒙古鄂伦春族、鄂温克族、达斡尔族人506份血痕红细胞酶EAP、ADA、AK1遗传多态性进行了研究,被调查群体中均未检出上述三种酶型的变异型。被调查群体三种酶型基因频率范围分别为EAPA 0.2139～0.2280;ADA10.9500～0.9596;AK1 1.0～0.9963。 Abstract:In the paper the phenotype freguencies of the EAP,ADA and AK1 have been investigated by the emthod of typing of EAP-ADA-AK on the samemixed starch／agarose gel electrophresis among 3 nationalities in Inner Mongolia.(Oroqen,Ewenki and Dawuor.) The distribution of their typy frequencies varied with races. The gene freqrencies DP and CDP were also calculated.     

湖南瓦乡人一侧优势行为特征研究

对湖南瓦乡人共308(男151,女157)例中学生的7项一侧优势行为特征进行了调查分析,结果表明:叠臂和利眼的R型出现率低于L型,扣手、利手、叠腿和利足的R型出现率明显高于L型(p0.01);各特征出现率仅扣手和叠臂表现出明显的性差(p0.05);7项特征中仅利足与扣手(p0.05)、利足与叠腿(p0.01)存在明显的相关性。聚类分析表明,湖南瓦乡人的一侧优势行为特征出现率与湖南汉族最为接近。     

内蒙古达斡尔族舌运动类型的遗传学研究

调查了内蒙古达斡尔族舌运动类型（卷舌、叠舌、翻舌、尖舌、三叶舌）,共480例（男239例,女241例）。研究结果显示：(1) 卷舌、叠舌、翻舌、尖舌、三叶舌出现率分别为80.42％、4.58％、31.25％、81.88％、31.46％;(2) 卷舌、三叶舌出现率存在性别间明显差异;(3) 卷舌基因与翻舌、三叶舌基因间存在互作关系,翻舌基因与叠舌、尖舌、三叶舌基因间存在互作关系;(4) 卷舌、叠舌、翻舌、三叶舌的出现率存在民族间或种族间差异。 Abstact:　A sample of 480 cases (239 males, 241 females) of Daur nationality in Inner Mongolia was investigated on 5 tongue moving types including rolling, folding, twisting, pointed and clover-leaf tongues. The results revealed as follows: The freqencies of rolling, folding, twisting, pointed and clover-leaf tongues were 80.42%, 4.58%, 31.25%, 81.88%, and 31.46%, respectively. Significant sexual difference was showed in the frequency of rolling and clover-leaf tongues. Furthermore, some genetic interaction occured between twisting tongue and the other 4 tongue moving types, rolling tongue and clover-leaf tongue, respectively. The 5 tongue moving types but pointed tongue showed national or racial difference.     

内蒙古西部地区蒙古族、汉族4项人类群体遗传学特征的研究

从1998~2001年调查了内蒙古自治区鄂尔多斯市、锡林郭勒盟、巴彦淖尔盟的蒙古族、汉族6个群体的拇指类型、环食指长、指甲类型、足趾长等4项人类群体遗传学指标,共获有效资料2760例。研究表明：（1）6个群体的直型拇指出现率均在60％以上,且均无性别间明显差异;（2）6个群体环指长率均远高于食指长率,有4个群体存在性别间显著差异;（3）各群体均表现出长型指甲最多、方型次之、扁型最少;（4）6个群体均多为拇趾长型,且各群体均无性别间显著差异;（5）4项指标之间无明显相关关系。 Abstract:From 1998 to 2001,a sample of 2760 Mongol and Han individuals was investigated in 3 areas (Eerduosi city,Xilinguole and Bayannaoer leagues) from Inner Mongolia.Each individual was studied on 4 genetic characters (thumb type,palmar digital formular,fingernail type and plantar digital formular).The result is as follows:(1) The frequencies of the straight thumb were over 60%,and there were no significant sexual differences in all of 6 groups.(2) The frequencies of the ring-finger-longer were much higher in 6 groups,and there were significant sexual differences in 4 groups.(3) The frequencies of the long-shaped fingernail were the highest in all groups,the squat-shaped were the lowest.(4) The big toes were longer than the second toes in most people of 6 groups,but without significant sexual differences in each groups.(5) There were no significant correlations between 4 characters.     

中国内蒙古鄂伦春、鄂温克、达斡尔族人五种酶型和二种血清型遗传多样性分析

应用G6PD ACP ADA AK1和GC-Tf同步电泳的方法及GPT凝胶电泳的方法,分别对内蒙古境内鄂温克、鄂伦春、达斡尔族人476份血痕红细胞酶型:GPT、6-PGD、ACP、ADA、AK1和血清型GC、Tf的遗传多样性进行检测。根据所测表型频率分布、计算出基因频率分布,识别能力和累积识别能力,就其多态性特征及其在法医学鉴定中的应用价值进行了分析讨论。同国内外不同资料进行了比较研究,阐明了三群体上述酶型和血清型遗传多样性分布的规律和特点。从血型遗传学角度探讨了鄂伦春、鄂温克、达斡尔族间的族源、血缘关系。被调查人群中未发现各酶型和血清型的变异型。     

利手、优势足及扣手的遗传方式初探

采用Slater区分单基因和多基因遗传的计算模式及Smith无偏分析方法对21个家系资料的分析表明：利手、优势足、扣手特征均为常染色体单基因显性遗传,R型为显性性状。虽然环境因素对这类特征的表现也有一定的影响,但遗传因素仍起主要作用。 Abstract:The data of 21 families were analyzed by the method of Slater's calculating model to differentiate between single-gene and multi-gene heredity and by the method of non-deviation analysis.The results showed that the hereditary mode of handedness or preferential foot or hand-clasping is the dominant heredity of single gene of autosome,and the right type of all of them is the dominant character.In a way,although environmental factors affected the phenotypes of these characters,hereditary factors were also the decisive ones.     

植物碱性亮氨酸拉链(bZIP)蛋白的研究进展(二)———DNA结合特性、基因表达、功能及应用

植物碱性亮氨酸拉链(bZIP)蛋白在高等植物基因表达与调控中起重要作用。本文介绍了植物bZIP蛋白与DNA结合特性,探讨了它们的基因表达和功能,综述了它们在分子生物学和基因工程研究中的应用。 Abstract:Plant basic leucine zipper (bZIP) proteins play an important role in the expression and regulation of higher plant genes.The DNA-binding properties of plant bZIP protein are introduced first in this article.Then their expression and function are discussed.Finally,their application to the studies of molecular biology and genetic engineering is reviewed.     

汉、回、蒙古族拇指类型、环食指长、扣手、交叉臂及惯用手的研究

作者于1996年在内蒙古调查了汉、回、蒙古族5项人类遗传学经典指标(拇指类型、环食指长、扣手、交叉臂、惯用手)。研究结果显示:(1)3个民族间拇指类型、扣手出现率存在显著性差异,交叉臂、惯用手出现率则无显著性差异,环食指长出现率蒙-汉、蒙-回间存在显著性差异;(2)拇指类型、扣手、惯用手出现率无性别间差异,环食指长出现率男女间存在显著性差异;(3)惯用手与扣手、惯用手与交叉臂间存在明显的相互关系,交叉臂与扣手之间则无关;(4)与国外人群比较,3个民族环指长出现率高,交叉臂R型出现率较高,扣手R型出现率较低,惯用手L型出现率高于印度的一些群体。 Abstract:Authors in vestigated 5 general indexes of anthrotogical genetics including pollical type,palmar digital formula,hand clasping,arm folding and handedness in Han,Hui and Mongol nationalities in 1996.The results showed as follows:(1)There were significant differences in the frequency of pollical type and hand clasping in 3 nationalities,but those of arm folding and handedness showed nosignificant difference and the frequencies of palmar digital formula between the Mongol and the Hui revealed significant difference.(2)There were no significant sexual difference in the frequency of pollical type,hand clasping and handedness while the long type (R) of ring finger revealed significant sexual difference.(3)There were obvious correlations between handedness and hand clasping,handedness and arm folding but no relation between arm folding and hand clasping.(4)In comparison with foreign ethnic groups,the 3 nationalities showed higher frequencies of long type (R) of ring finger and right-arm folding but the frequence right-hand clasping revealed slightly lower.The findings showed higher frequence of Left-Handedness than that of Indian population.     

汉族湘语族群的7项不对称行为特征

在湖南省娄底地区调查了汉族湘语族群507例(男269例、女238例)高中学生的7项不对称行为特征(扣手、利手、叠臂、叠腿、利足、起步类型和优势眼)。研究结果显示:1)湘语族群叠臂与起步类型L型率高于R型率, 其余5项均R型率高于L型率。2)湘语族群利手、叠臂、利足出现率存在性别间差异, 其余4项出现率均不存在性别间差异。3)在已发表的资料中, 湘语族群扣手和起步类型右型率中等偏高, 利手右型率处于中等水平, 叠臂和叠腿右型率低,利足和优势眼右型率高。4)主成分分析结果显示, 汉族各族群不对称行为特征有一定的共性, 相对接近于中国北亚类型族群, 而与南亚类型族群差距较大。中国族群间不对称行为特征的差异, 主要反映在叠臂率差异、利足率差异。     

Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits

Annotations of gene structures and regulatory elements can inform genome-wide association studies (GWASs). However, choosing the relevant annotations for interpreting an association study of a given trait remains challenging. I describe a statistical model that uses association statistics computed across the genome to identify classes of genomic elements that are enriched with or depleted of loci influencing a trait. The model naturally incorporates multiple types of annotations. I applied the model to GWASs of 18 human traits, including red blood cell traits, platelet traits, glucose levels, lipid levels, height, body mass index, and Crohn disease. For each trait, I used the model to evaluate the relevance of 450 different genomic annotations, including protein-coding genes, enhancers, and DNase-I hypersensitive sites in over 100 tissues and cell lines. The fraction of phenotype-associated SNPs influencing protein sequence ranged from around 2% (for platelet volume) up to around 20% (for low-density lipoprotein cholesterol), repressed chromatin was significantly depleted for SNPs associated with several traits, and cell-type-specific DNase-I hypersensitive sites were enriched with SNPs associated with several traits (for example, the spleen in platelet volume). Finally, reweighting each GWAS by using information from functional genomics increased the number of loci with high-confidence associations by around 5%.     

Dominance Genetic Variance for Traits Under Directional Selection in Drosophila serrata

In contrast to our growing understanding of patterns of additive genetic variance in single- and multi-trait combinations, the relative contribution of nonadditive genetic variance, particularly dominance variance, to multivariate phenotypes is largely unknown. While mechanisms for the evolution of dominance genetic variance have been, and to some degree remain, subject to debate, the pervasiveness of dominance is widely recognized and may play a key role in several evolutionary processes. Theoretical and empirical evidence suggests that the contribution of dominance variance to phenotypic variance may increase with the correlation between a trait and fitness; however, direct tests of this hypothesis are few. Using a multigenerational breeding design in an unmanipulated population of Drosophila serrata, we estimated additive and dominance genetic covariance matrices for multivariate wing-shape phenotypes, together with a comprehensive measure of fitness, to determine whether there is an association between directional selection and dominance variance. Fitness, a trait unequivocally under directional selection, had no detectable additive genetic variance, but significant dominance genetic variance contributing 32% of the phenotypic variance. For single and multivariate morphological traits, however, no relationship was observed between trait–fitness correlations and dominance variance. A similar proportion of additive and dominance variance was found to contribute to phenotypic variance for single traits, and double the amount of additive compared to dominance variance was found for the multivariate trait combination under directional selection. These data suggest that for many fitness components a positive association between directional selection and dominance genetic variance may not be expected.     

内蒙古达斡尔族舌运动类型的遗传学研究

调查了内蒙古达斡尔族舌运动类型（卷舌、叠舌、翻舌、尖舌、三叶舌）,共480例（男239例,女241例）。研究结果显示：（1）卷舌、叠舌、翻舌、尖舌、三叶舌出现率分别为80．42％、4．58％、31．25％、81．88％、31．46％;（2）卷舌、三叶舌出现率存在性别间明显差异;（3）卷舌基因与翻舌、三叶舌基因间存在互作关系,翻舌基因与叠舌、尖舌、三叶舌基因间存在互作关系;（4）卷舌、叠舌、翻舌、三叶舌的出现率存在民族间或种族间差异。