门巴族ABO血型系统基因频率的检测与分析

本文研究的是中国门巴族人群ABO血型系统遗传多态性与其他17个族群间的遗传关系.采用玻片法检测并分析了西藏100名门巴族人群的ABO血型分布;应用网络生物信息资源,收集了西藏昌都、林芝、拉萨、山南、日喀则、那曲藏族,青海贵南、黄南、西宁藏族,甘肃藏族,云南丽江藏族,内蒙古蒙古族,宁夏回族,陕西、河南、山东汉族等17个族群的相应资料,计算了他们间的遗传距离,并进行了聚类分析.结果表明西藏门巴族ABO血型系统的表型频率为O>B>A>AB(-A=0.2128,-B=0.2523,-O=0.4681,AB=0.0638),基因频率r>q>p(r=0.6770,q=0.1742,p=0.1488),符合我国ABO血型系统分布规律;遗传距离分析显示,门巴族与珞巴族距离较近(0.0851),其次为云南丽江藏族(0.0943)和西藏、青海其他地区藏族,最后是中国其他少数民族的汉、回、蒙古族.聚类分析与遗传距离分析结果基本一致.说明门巴族在遗传上与藏族的关系近于其他少数民族.     

人类ABO血型的群体遗传学研究

以大学生义务血型鉴定基础数据为资料（N=790）,对血型等数量性状遗传学计算方法进行了探讨,并与中国人ABO血型系统的血清学资料、几个常见外族ABO血型资料等进行了对比,分析了人类ABO血型的群体遗传学特性及其类别。     

幽门螺旋杆菌感染与血型抗原相关性研究

目的通过观察幽门螺杆菌(Helicobacter pylori,Hp)在各血型患者中的分布情况,分析Hp感染与ABO血型、Lewis血型、分泌-非分泌表型的关系.方法收集幽门螺旋杆菌感染患者100例为感染组,100例健康的无偿献血者为对照组,分析两组患者的ABO血型系统、血型物质、Lewis血型系统的分布差异.结果 ABO血型分布比较:感染组O型血占56%(56/100),高于对照组的31%(31/100),感染组A型血占16%(16/100),低于对照组的33%(33/100).卡方检验结果显示:感染人群中O型血有较高发生率(56%),和普通人群中A型血(33%)之间具有显著性统计学意义(P0.05).ABO血型与幽门螺杆菌感染之间有相关性,O型人有较高感染倾向,而A型血则有较低感染倾向.Lewis表型分布比较:分析整个数据,感染组与对照组的表型分布基本一致,说明Lewis表型分布不受幽门螺杆菌感染的影响,感染组各表型与对照组比较差异无统计学意义.血型物质分布比较:分泌型个体分布在感染组和对照组之间比较差异无统计学意义.结论幽门螺杆菌感染与O型血有较强的关联,但与Lewis血型、分泌-非分泌表型无关.     

湘西桑植白族ABO血型的调查报告

本文报道湘西桑植白族718人ABO血型的调查资料.结果表明:其表现型频率的次序为A>O>B>AB,基因频率的次序是O>A>AB;人群中ABO血型各型的表型频率分布分别是A 35.24%、B 25.63%、O 30.91%、AB 8.22%;基因频率为P_(0.2492) q_(0.1875)r_(0.5634);Hardy-Weiberg测验x~2=1.6.     

湖南侗族、汉族ABO血型的调查与分析

对湖南通道侗族337人的ABO血型进行了调查，作为对比，同时调查了湖南怀化汉族586人的ABO血型。计算了湖南侗族、汉族和贵州仡佬族、水族、布依族、广西壮族，湘西苗族、土家族等8个民族群体的遗传距离并绘制民族聚类图。     

Dissecting the architecture of a quantitative trait locus in yeast

Most phenotypic diversity in natural populations is characterized by differences in degree rather than in kind. Identification of the actual genes underlying these quantitative traits has proved difficult. As a result, little is known about their genetic architecture. The failures are thought to be due to the different contributions of many underlying genes to the phenotype and the ability of different combinations of genes and environmental factors to produce similar phenotypes. This study combined genome-wide mapping and a new genetic technique named reciprocal-hemizygosity analysis to achieve the complete dissection of a quantitative trait locus (QTL) in Saccharomyces cerevisiae. A QTL architecture was uncovered that was more complex than expected. Functional linkages both in cis and in trans were found between three tightly linked quantitative trait genes that are neither necessary nor sufficient in isolation. This arrangement of alleles explains heterosis (hybrid vigour), the increased fitness of the heterozygote compared with homozygotes. It also demonstrates a deficiency in current approaches to QTL dissection with implications extending to traits in other organisms, including human genetic diseases.     

Human metabolic phenotype diversity and its association with diet and blood pressure

Metabolic phenotypes are the products of interactions among a variety of factors-dietary, other lifestyle/environmental, gut microbial and genetic. We use a large-scale exploratory analytical approach to investigate metabolic phenotype variation across and within four human populations, based on 1H NMR spectroscopy. Metabolites discriminating across populations are then linked to data for individuals on blood pressure, a major risk factor for coronary heart disease and stroke (leading causes of mortality worldwide). We analyse spectra from two 24-hour urine specimens for each of 4,630 participants from the INTERMAP epidemiological study, involving 17 population samples aged 40-59 in China, Japan, UK and USA. We show that urinary metabolite excretion patterns for East Asian and western population samples, with contrasting diets, diet-related major risk factors, and coronary heart disease/stroke rates, are significantly differentiated (P < 10(-16)), as are Chinese/Japanese metabolic phenotypes, and subgroups with differences in dietary vegetable/animal protein and blood pressure. Among discriminatory metabolites, we quantify four and show association (P < 0.05 to P < 0.0001) of mean 24-hour urinary formate excretion with blood pressure in multiple regression analyses for individuals. Mean 24-hour urinary excretion of alanine (direct) and hippurate (inverse), reflecting diet and gut microbial activities, are also associated with blood pressure of individuals. Metabolic phenotyping applied to high-quality epidemiological data offers the potential to develop an area of aetiopathogenetic knowledge involving discovery of novel biomarkers related to cardiovascular disease risk.     

Genetic effects on sperm design in the zebra finch

Sperm design and function are important determinants of male reproductive success and are expected to be under strong selection. The way that spermatozoa phenotypes evolve is poorly understood, because there have been few studies of the quantitative genetics of sperm. Here we show, in the zebra finch Taeniopygia guttata, an extraordinary degree of inter-male variation in sperm design that is independent of sperm swimming velocity. A quantitative genetics study using data from over 900 zebra finches in a complex breeding experiment showed that sperm head, mid-piece and flagellum length are heritable, that negative genetic correlations exist between sperm traits, and that significant indirect (maternal) genetic effects exist. Selection on the zebra finch sperm phenotype may be low because sperm competition is infrequent in this species, and this, in combination with negative genetic correlations and maternal genetic effects, may account for the variation in sperm phenotype between males. These results have important implications for the evolution of sperm in other taxa.     

基于SSR标记的福建省闽楠代表性群体遗传多样性分析

【目的】闽楠(Phoebe bournei)是珍贵的用材树种,被列为国家Ⅱ级重点保护野生植物。以福建省内保存较好的3个代表性闽楠自然群体为对象,研究其群体间及群体内的遗传变异水平及遗传结构特征,探究其成因,为闽楠天然群体的保护和利用提供依据。【方法】利用自行开发的18个多态性SSR标记,对3个群体共计88个样本进行检测,利用Popgene 32软件,分析群体的有效等位基因数(N_e)、观测杂合度(H_o)、期望杂合度(H_e)、基因分化系数(F_st))等,利用Structure软件研究群体的遗传结构。【结果】3个闽楠群体的平均期望杂合度为0.629,表明遗传多样性较丰富;3个群体的平均观测杂合度明显低于期望杂合度,群体内近交程度较高[近交系数(F)=0.280)],尤其是罗卜岩群体H_o/H_e差异大(0.399/0.608)、近交程度高(F=0.378);分子变异分析显示,闽楠的变异主要来源于群体内,群体间存在中等程度的分化(F_st=0.197)。聚类分析结果表明,3个群体闽楠样本可明显区分为两类,两类间存在明显的遗传分化,福建罗卜岩和福建顺昌群体为第Ⅰ类,且两者地理位置较近;福建政和与其距离较远,为第Ⅱ类。【结论】福建闽楠3个代表性群体具有较高的遗传多样性,但具有小群体特征,群体内近交程度较高,而地理隔离和人为活动使闽楠具有一定程度的遗传分化;应采取措施使群体内充分异交,以维持闽楠群体较高的遗传多样性。     

云南怒族八种红细胞血型抗原调查分析

目的 :了解云南怒族ABO、Rh、MN、P、GPC、GPA、KeLL、Wrb血型系统抗原分布情况 ,为解决临床输血及人类学、遗传学、分子生物学提供理论依据。方法 :在怒族自然村采用随机抽样调查128人 ,进行血清学检测定型的方法。结果 :云南怒族ABO血型系统中表现型A>O>B>AB ;基因频率r>p>q。Rh血型系统中Rh( -D)阴性率占4 69 % ,d基因频率为0 2165 ,分布较高于我国各民族(除新疆维吾尔族外) ,该民族表现型CCDee居多 ,占31 25% ,其分布特征为CCDee>CcDee>CcDE>ccDE>ccdee>ccDee。MN血型系统中表现型M>MN>N ;基因频率m>n,该系统中的Mur抗原阳性率特别高为22 65%(29/128) ,与上海汉族阳性率为0 66%(6/900)相比 ,怒族Mur抗原分布明显高于汉族Mur抗原。P血型系统中基因频率P2(0 7552)>P1(0 2448) ;GPC、GPA、KeLL、Wrb血型皆为阳性。结论 :不同民族的血型抗原存在一定的差异性 ,怒族的血型分布有自己的特点。     

10例肿瘤导致ABO血型系统抗原减弱病例分析

探讨肿瘤因素导致 ABO 血型系统抗原减弱所引起的定型困难,解放军总医院2002年以来.在血型鉴定时发现10例肿瘤患者血标本,正向定型出现弱凝集或不凝集;反向定型正常,正反定型不一致.其自身对照为阴性,且排除假凝集所致.通过吸收放散、唾液型物质中和试验、H 抗原强度等实验检测弱抗原,并对患者进行随访,在患者病情缓解后重新进行血型鉴定.结果表明10例受检者红细胞上确有弱抗原存在,其中3例血清学实验呈现较明显亚型特征,但肿瘤经过治疗缓解后,亚型特征逐渐减弱甚至消失,定型恢复正常.说明某些肿瘤可以导致 ABO 血型系统抗原减弱,出现正反定型不一致,血清学呈现亚型特征,应综合病情、输血史、家系调查及特殊血清学检查来确定血型,并与亚型相鉴别.     

青海省湟源县日月藏族乡藏族ABO血型调查分析

本文对青海省湟源县日月藏族乡的300名藏族人群进行了ABO血型的随机抽样,其中男女各半,试图了解青海这一藏区的ABO血型分布情况和藏族族源.调查结果为:(1)藏族的ABO血型分布为A型占20.67%、B型占22.33%、O型占48.33%、AB型占8.67%|,特征是:O>B>A>AB,基因频率是p=0.1575、q=0.1673、r=0.6752,特征为r>q>p.(2)藏族ABO血型分布的民族指数为0.9991.此次调查青海省湟源县日月藏族乡的藏族人群具有较高的O基因频率,具有典型的南方人群结构特征,说明藏族与南方诸多民族有着族源关系.调查结果基本上与以往的文献资料相符,且符合我国省区血型频数分布规律.     

Cryptic genetic variation promotes rapid evolutionary adaptation in an RNA enzyme

Cryptic variation is caused by the robustness of phenotypes to mutations. Cryptic variation has no effect on phenotypes in a given genetic or environmental background, but it can have effects after mutations or environmental change. Because evolutionary adaptation by natural selection requires phenotypic variation, phenotypically revealed cryptic genetic variation may facilitate evolutionary adaptation. This is possible if the cryptic variation happens to be pre-adapted, or "exapted", to a new environment, and is thus advantageous once revealed. However, this facilitating role for cryptic variation has not been proven, partly because most pertinent work focuses on complex phenotypes of whole organisms whose genetic basis is incompletely understood. Here we show that populations of RNA enzymes with accumulated cryptic variation adapt more rapidly to a new substrate than a population without cryptic variation. A detailed analysis of our evolving RNA populations in genotype space shows that cryptic variation allows a population to explore new genotypes that become adaptive only in a new environment. Our observations show that cryptic variation contains new genotypes pre-adapted to a changed environment. Our results highlight the positive role that robustness and epistasis can have in adaptive evolution.     

玫瑰冠鸡IGF-1基因多态性与早期生长速度关系研究

以玫瑰冠类群鸡(玫瑰冠鸡)为材料,采用PCR-RFLP法检测了IGF-1基因5’调控区DNA序列多态性,并运用线性模型统计方法分析了多态性与初生重和12周龄体重的关系。结果显示:玫瑰冠鸡IGF-1基因5’调控区自然存在两种不同DNA序列,经PstI酶切后出现3种基因型("-/-"、"-/ "、" / "),基因型分布符合哈代-温伯格定律。各基因型个体的初生重、12周龄体重的最小二乘均存在"-/-">" /-">" / "的趋势,且"-/-"型个体的12周龄体重显著高于" / "型个体(P<0.05)。     

Widespread local house-sparrow extinctions

House-sparrow populations have declined sharply in Western Europe in recent decades, but the reasons for this decline have yet to be identified, despite intense public interest in the matter. Here we use a combination of field experimentation, genetic analysis and demographic data to show that a reduction in winter food supply caused by agricultural intensification is probably the principal explanation for the widespread local extinctions of rural house-sparrow populations in southern England. We show that farmland populations exhibit fine-level genetic structuring and that some populations are unable to sustain themselves (sinks), whereas others act as sources.     

乳腺癌患者细胞免疫指标的检测及意义

目的检测乳腺癌患者外周血T淋巴细胞总数及CD4~+T细胞、CD8~+T细胞、CD45RA~+T细胞、CD45RO~+T细胞等T淋巴细胞亚群的百分率,用以评价患者的免疫状态.方法选择女性原发性乳腺肿瘤患者50例为病例组,并以病理检查的TNM分期结果做进一步分组,其中乳腺癌Ⅰ期27例,乳腺癌Ⅱ+Ⅲ期23例;选择女性健康体检者40例为健康对照组.应用流式细胞仪,分别检测各组外周血T淋巴细胞亚群的数量,统计分析各组检测结果的差异性.结果乳腺癌Ⅱ+Ⅲ期组CD3~+T细胞和CD4~+T细胞百分率明显低于正常对照组和乳腺癌Ⅰ期组,差异具有统计学意义(P0.05);乳腺癌Ⅰ期组CD45RA~+T细胞明显低于正常对照组,乳腺癌Ⅱ+Ⅲ期组CD45RA~+T细胞明显低于乳腺癌Ⅰ期组,差异具有统计学意义(P0.05);乳腺癌Ⅰ期组CD45RO~+T细胞明显高于正常对照组,乳腺癌Ⅱ+Ⅲ期组CD45RO~+T细胞明显高于乳腺癌Ⅰ期组,差异具有统计学意义(P0.05).结论T细胞亚群检测是评价肿瘤患者细胞免疫功能的重要指标,具有重要的临床应用价值.乳腺癌患者免疫功能与肿瘤恶变的发生、发展、临床分期有一定相关性,随着病情的进展,机体免疫功能呈现下降趋势.     

Cryptic evolution in a wild bird population.

Microevolution is expected to be commonplace, yet there are few thoroughly documented cases of microevolution in wild populations. In contrast, it is often observed that apparently heritable traits under strong and consistent directional selection fail to show the expected evolutionary response. One explanation proposed for this paradox is that a genetic response to selection may be masked by opposing changes in the environment. We used data from a 20-year study of collared flycatchers (Ficedula albicollis) to explore selection on, and evolution of, a heritable trait: relative body weight at fledging ('condition'). Despite consistent positive directional selection, on both the phenotypic and the additive genetic component (breeding values, estimated from an animal model) of condition, the mean phenotypic value of this trait in the population has declined, rather than increased, over time. Here we show that, despite this decline, the mean breeding value for condition has increased over time. The mismatch between response to selection at the levels of genotype and phenotype can be explained by environmental deterioration, concealing underlying evolution. This form of cryptic evolution may be common in natural environments.     

舟山附近海域3个大黄鱼养殖群体遗传多样性的微卫星分析

利用8个微卫星多态标记分析舟山附近海域3个大黄鱼养殖群体共90个体的遗传多样性。结果显示,8个微卫星位点共检测到等位基因64个,各位点等位基因数(A)范围为5~10个,观测杂合度(Ho)的平均值为0.9111,期望杂合度(He)的平均值为0.8108,多态信息含量(PIC)平均值为0.7800,表明所选择的8个微卫星位点均表现出较高的多态性。群体的遗传多样性分析结果显示,3个群体的平均观测杂合度和平均期望杂合度分别为0.891 7、0.900 0、0.941 7和0.738 4、0.743 2、0.821 3,Shannon多样性指数分别为1.467 0、1.449 0、1.800 9,表明3个群体的遗传多样性处于较高水平。HardyWeinberg平衡检验发现只有LYC0015和LYC0009位点处于平衡状态(PHW0.05),其余6个位点都不同程度地偏离了平衡。3个群体的聚类分析表明,岱山和朱家尖西岙网箱2个养殖群体亲缘关系较近,而与舟山市水产所耐低温F2代群体亲缘关系较远。     

华东地区青冈种群等位酶变异与环境变量的关系

分析华东地区６个青冈种群的遗传变异与环境变量的关系．结果表明研究范围内温度因子、降水和纬度之间显著相关．过氧化物酶的等位基因频率与环境因子（尤其是降水和温度因子）高度相关，ＰＯＤ－１的等位基因Ａ和Ｂ的频率在干旱、热量条件差的种群中较高，而ＰＯＤ－２中的等位基因Ｄ的频率正好相反．其他位点的一些等位基因频率与环境因子也存在相关性．以上结果表明气候因子在青冈的遗传分化和遗传变异维持中起重要作用．     

Functional genomic analysis of C. elegans chromosome I by systematic RNA interference

Complete genomic sequence is known for two multicellular eukaryotes, the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster, and it will soon be known for humans. However, biological function has been assigned to only a small proportion of the predicted genes in any animal. Here we have used RNA-mediated interference (RNAi) to target nearly 90% of predicted genes on C. elegans chromosome I by feeding worms with bacteria that express double-stranded RNA. We have assigned function to 13.9% of the genes analysed, increasing the number of sequenced genes with known phenotypes on chromosome I from 70 to 378. Although most genes with sterile or embryonic lethal RNAi phenotypes are involved in basal cell metabolism, many genes giving post-embryonic phenotypes have conserved sequences but unknown function. In addition, conserved genes are significantly more likely to have an RNAi phenotype than are genes with no conservation. We have constructed a reusable library of bacterial clones that will permit unlimited RNAi screens in the future; this should help develop a more complete view of the relationships between the genome, gene function and the environment.