福建畲族的红细胞血型分布The Distribution of Red Cell Blood Group Systems of Shezu in Fujian Province

本文报道了父母双方上溯三代均为畲族的123名健康人的9个红细胞血型系统的分布。其表型分布如下：ABO血型系统：A型34人,B型26人,O型57人,AB型6人。MNSs血型系统：MNSs型5人,MMSs型5人,NNSs型1人, MMss型32人,MNss型62人,NNss型18人。未发现SS型。Rh血型系统：CCDee型44人,CcDee型9人,CCDEe型5人, CcDEe型55人,ccDEe型2人,ccDEE型8人,未发现ccDee、CCDEE型及CcDEE型。Duffy血型系统：Fy(a+b-)型115人,Fy(a+b+)型8人,未发现Fy(a-b+)及Fy(a-b-)型。 Kidd血型系统：Jk(a+b-)型49人,Jk(a+b+)型43人,Jk(a+b+)型43人,Jk(a-b+)型31人,未发现Jk (a-b-)型。Lutheran血型系统: Lu(a-b+) 型123人,未发现Lu(a+b-)及Lu(a+b+)型。Diego血型系统：Di(a+)型13人,Di(a-)型110人。P血型系统：P1(+)型38人,P1(-)型85人。Lewis血型系统：Le(a+b-)型16人,Le(a+b+)型9人,Le(a-b+)型91人,Le(a-b-)型7人。     

福建畲族的红细胞血型分布The

本文报道了父母双方上溯三代均为畲族的123名健康人的9个红细胞血型系统的分布。其表型分布如下：ABO血型系统：A型34人,B型26人,O型57人,AB型6人。MNSs血型系统：MNSs型5人,MMSs型5人,NNSs型1人, MMss型32人,MNss型62人,NNss型18人。未发现SS型。Rh血型系统：CCDee型44人,CcDee型9人,CCDEe型5人, CcDEe型55人,ccDEe型2人,ccDEE型8人,未发现ccDee、CCDEE型及CcDEE型。Duffy血型系统：Fy(a+b-)型115人,Fy(a+b+)型8人,未发现Fy(a-b+)及Fy(a-b-)型。 Kidd血型系统：Jk(a+b-)型49人,Jk(a+b+)型43人,Jk(a+b+)型43人,Jk(a-b+)型31人,未发现Jk (a-b-)型。Lutheran血型系统: Lu(a-b+) 型123人,未发现Lu(a+b-)及Lu(a+b+)型。Diego血型系统：Di(a+)型13人,Di(a-)型110人。P血型系统：P1(+)型38人,P1(-)型85人。Lewis血型系统：Le(a+b-)型16人,Le(a+b+)型9人,Le(a-b+)型91人,Le(a-b-)型7人。     

国内首次发现两例JK(a—b—)及其在不同人种中的分布

在河南汉族中发现了国内首例稀有的JK(a-b-)红细胞血型。家系调查未发现第二例。先证者父母及同胞均为Jk(a+b-)型,丈夫及儿子均为Jk(a-b+)型。四个月后在广东梅县客家人中又发现一例JK(a-b-)型,先证者为一未婚女子。两位先证者血清中均无抗体。到目前为止,JK(a-b-)型在中国人群中的分布频率为2/6391(0.03％)Jk基因频率为0.0202。     

侗族九个红细胞血型系统和ABH分泌型的分布

报道了广西侗族的ABO、MNSs、Rhesus、Duffy、Kidd、P、Diego、Lewis和Xg等九种红细胞血型系统和ABH唾液分泌型的分布。共调查了201名父母均系侗族而彼此无血缘的学生,其中男116名,女85名。结果表明,广西侗族中ABO系统的r基因(0.6286)、MN系统的m基因(0.6294)、Duffy系统的Fy~a基因(0.9651)、Kidd系统的JK~a基因(0.4628)和Rhesus系统的CDe染色体(0.7532)等频率都很高,ABO系统的q基因(0.1672)、P系统的P_1基因(0.1333)和Lewis系统的Le~a基因(0.3232)等频率较低。MNSs系统的S基因(0.0124)频率很低,而MS染色体连锁率却为零。Xg系统的Xg~a基因频率(0.3746)与汉族和维吾尔族一样,处于低水平。Lewis系统的Le(a )表型者中发现八例是ABH唾液分泌型,但分泌的物质不是A便是B,而分泌H物质的唾液分泌型者全部都是Le(a-)型。六个民族间遗传距离分析表明,侗族与壮族在血缘上最近,其次是与朝鲜族、蒙古族、汉族相近,而与维吾尔族最远。     

福建汉族8个红细胞血型系统的分布

对福建汉族人群红细胞血型系统的19个抗原进行了调查。各系统的调查人数与基因频率为:ABO:216人,p=0.1936、q=0.1766,r=0.6298;Lewis:214人,Le(a+)17人,表现型频率=7.94％;P:215人,n=0.1427;Diego:215人,Di(?)=0.2830;MNSs:用抗M、抗N血清调查了324人,对其中150人又用S和s抗血清进行了调查,m=0.5695、n=0.4305、单倍型频率MS=0.0200、NS=0.0139,Ms=0.5500、Ns=0.4161;Dhffy:214人,发现Fy(a-)3例;Fy(?)=0.8817;Kidd:215人,未发现JK(a-b=)型,JK(?)=0.4767;Rh:214人,发现1例CCdee型,d=0.0686,单倍型频率r(?)=0.0686、R~1=0.6352、R~2=0.1970、R~0=0.0605、R~2=0.0388。     

云南泸西汉族17个Y-STR基因座多态性及遗传关系分析

调查云南泸西县汉族群体17个Y-STR基因座的多态性分布, 探讨其群体遗传学及法医学应用价值。应用AmpF?STR?Yfiler荧光标记复合扩增系统扩增156名汉族无关男性个体的17个Y-STR基因座, 用ABI3100遗传分析仪进行基因检测, 计算等位基因及单倍型频率, 并结合已公开发表的国内外其他16个群体的遗传学资料, 分析各群体间的遗传距离。云南泸西汉族男性群体中, 共观察到154种单倍型, 其中152种为仅观察到1次的单倍型, 2种单倍型观察到2次, 单倍型多样性(HD)值为0.9998, 基因多样性(GD)值在0.3901(DYS437)—0.9632(DYS385a/b)。17个群体遗传距离分析提示, 国内人群云南泸西汉族与湖南汉族的遗传距离最小(0.005), 与闽南汉族的遗传距离最大(0.035); 在中国周边群体中,云南泸西汉族与新加坡华人的遗传距离最小(0.015), 与日本人和马来西亚印度人群的遗传距离最大(0.060)。结果表明, 17个Y-STR基因座在云南泸西汉族中具有较高的遗传多态性, 适用当地的法医学应用。与其他民族群体的遗传多样性比较, 对了解各群体的起源、迁徙及相互关系有重要意义。     

赣南地区汉族人群29个Y-STR基因座的遗传多样性及系统进化分析

研究赣南地区汉族人群29个Y-STR基因座的遗传多态性以及与国内多个民族群体的遗传关系,探讨其在群体遗传学和法医学中的实际应用价值。采用DNATyperTM Y29试剂盒对1532例赣南地区健康男性无关个体进行Y-STR基因座扩增,3730型遗传分析仪进行毛细管电泳检测,运用GeneMapper IDX1.4软件对数据结果进行Y-STR分型,计算29个Y-STR基因座的等位基因频率及单倍型频率等遗传学参数。应用Mega-X软件对选取的群体构建进化树,用YHRD在线工具软件的分子方差分析(AMOVA),计算群体间遗传距离,同时构建多维尺度图(MDS)。经分析,29个Y-STR基因座在赣南汉族人群中的基因多样性(GD)值范围为0.3815~0.8766,除了DYS508、DYS437、DYS391和DYS438基因座外,其余25个基因座GD值均高于0.5,且单倍型多样性为0.999924,表明29个Y-STR基因座在赣南汉族人群中有较高的遗传多态性。与其他地区汉族人群比较,赣南汉族与福建汉族遗传距离最近(遗传距离Rst值是0.0002),与黑龙江汉族遗传距离最远(Rst值是0.0249);与其他地区少数民族人群比较,赣南汉族与云南白族遗传距离最近(Rst值是0.0059),与甘孜藏族遗传距离最远(Rst值是0.4689)。研究表明,这29个Y-STR基因座在赣南汉族人群中具有较好的遗传多态性分布,能够满足家系排查及法医学检案的要求,所得的数据可为该地区的群体遗传学和法医学研究与应用提供基础数据支持。     

山西汉族17个Y-STR基因座遗传多态性及遗传关系

为了调查山西汉族群体17个Y-STR基因座的多态性分布,探讨其群体遗传学及法医学应用价值,文章应用Y-filer TM试剂盒检测222名山西汉族无关男性个体的17个Y-STR基因座,用ABI3130遗传分析仪进行基因分型,计算等位基因频率及单倍型多样性,并结合已公开发表的国内其他13个群体相关数据资料,分析山西汉族群体遗传距离和聚类关系。结果:山西汉族个体中共检出219种单倍型,单倍型多样性为0.9999;基因多样性GD值在0.3894(DYS391)~0.9755(DYS385a/b)。从遗传距离分析发现,山西汉族与吉黑汉族之间的遗传距离最近(?0.0001),与台湾群体(0.0152)之间的遗传距离相对较远。结果表明该17个Y-STR基因座在山西汉族群体中具有丰富的遗传多态性,对建立Y染色体STR数据库、研究群体遗传学和进行法医学应用有重要意义。     

福建畲族群体17个Y-STR基因座单倍型及遗传关系

应用Y-filerTM试剂盒及基因分型技术,检测152份福建畲族无关男性个体17个Y-STR基因座的多态性分布,计算等位基因频率及单倍型多样性,并结合已公开发表的其他11个群体相应基因座的单倍型资料,分析福建畲族群体遗传距离和聚类关系。福建畲族DYS385a/b基因座检出50种单倍型,其余15个Y-STR基因座分别检出3-11个等位基因,基因多样性GD值在0.4037(DYS391)～0.9725(DYS385a/b);观察到DYS19和DYS390基因座双等位基因和DYS385a/b基因座三等位基因,以及DYS448等部分基因座出现的"off-ladder"等位基因现象。17个Y-STR基因座共同构成的单倍型144种,其中138种单倍型出现1次,5种出现2次,1种出现4次,累计GD值为0.9990。从遗传距离分析发现,福建畲族与浙江汉族之间的遗传距离最近(0.0042),与青海藏族(0.2378)之间的遗传距离相对较远。福建畲族最靠近由台湾群体、浙江汉族、南方汉族等典型南方汉族群体聚成的分支区域。结果表明该17个Y-STR基因座在福建畲族群体中具有丰富的遗传多态性,对建立Y染色体STR数据库,研究群体遗传学和进行法医学应用有重要意义。     

中华稻蝗不同地理种群遗传多样性的AFLP分析

为研究中华稻蝗种群遗传多样性和遗传结构, 文章对我国7省市的7个中华稻蝗种群进行AFLP分析。选取7对引物扩增128个个体, 共产生336条带, 多态性条带292条, 占86.90%。结果表明: 中华稻蝗种群具有较高的遗传多样性水平, 其中海南万宁种群的遗传多样性高于其他各种群。Mantel检验(r=0.27, P=0.89)表明中华稻蝗各种群遗传距离与地理距离间没有显著相关性。种群间具有明显的遗传分化现象。UPGMA(Unweighted pair group method average)聚类分析显示, 7个中华稻蝗种群按地理距离分为3支: 北方北京昌平、山西太原和山东济宁为一支; 南方陕西汉中、湖南长沙和广西来宾为一支; 海南万宁单独为一支。上述结果以及PCA(Principal component analysis)分析均表明由于地理隔离中华稻蝗种群显示出明显的南北分化和岛屿大陆种群遗传分化现象。     

宁夏回族红细胞血型的研究

调查了219名宁夏回族的 ABO、MNSs、Rhesus、P、Lewis、Duffr、Kidd Diego 、Kell、Lutheran和Xg等11种系统的红细胞血型。结果表明,宁夏回族有较高的q(0.2530)、Fy~a(0.9270)、CDe(0.6225) 和E(0.2660) 等基因或染色体频率;d(0.0557)、s(0.0594)、P_1(0.1316)和 Le~a(0.3882)等基因频率较低;而未发现K和Lu~a基因;Di~a的频率为0.0349,也处于低水平;Ns(0.4984)连锁率高于 Ms(0.4422);Xg~a基因频率为0.4432。11个系统的红细胞血型的分布和遗传距离分析均反映了宁夏回族的遗传组成具有我国北方民族的特征,尤其接近于北方汉族和蒙古族,与新疆维吾尔族则存在较大的差异。     

中国不同人群的红细胞抗原多态性及血型组合

计算了汉、回、蒙古、维吾尔、侗、高山、朝鲜和壮等八个民族红细胞抗原常见等位基因数、常见血型和血型组合频率、血型相同的二人随机相遇的概率、血型组合数、常见和罕见的血型组合、AB、Rh(D-)型频率及排除亲子关系的概率。结果表明,中国北方民族的血型系统的多态程度比南方民族高。     

Medicogenetic study of isolates in Uzbekistan. II. Anthropogenetic characteristics, blood groups and serum proteins]

A study is carried out on the distribution of ABO, MN, Rh, P and Le blood groups systems, haptoglobins, and common anthropogenetic features in the population of two villages of the Samarkand district. The examined samples have appeared to be heterogenous for ABO, Rh and P systems. For MN and Le unification is possible. The summary data on the allotment of phenotypes are as follows: (%) 0-30.2, A-35.3, B-26.2, AB-8.3, M-33.9, N-26.2, MN-39.9, Rh- -1.5, P-78.6, Le(a-b+)-33, Le (a+b-)-22.2, Le(a-b-)-34.2, Le(a+b+)-10.6. Gene frequencies have are calculated. The occurrence with regards to haptoglobins in both the villages is the same. The summary data are as follows: Hp1=1-4.8, Hp1=2-36.2, Hp2=2-59%. Gene frequencies have been calculated. In the population of the village Karakent there is a change of the frequency in many features of dermatoglyphics. The frequencies of anthropogenetic features do not differ between the villages. The summary data are the following: the frequency of theelbow type of hand is 86.9%, the right type of "hand clasping"-55.0%, the right type of "arm folding"-50.4%, righthandedness-99.7%. The occurence of square lobe of the ear is 21%, spliced one is 26.2%, the hanging down is 52.7%. The frequency of the gene insensitivity for PTC taste is 0.47 in one village and 0.53 in the other.     

Innate protection conferred by fucosylated oligosaccharides of human milk against diarrhea in breastfed infants

To test the hypothesis that human milk fucosyloligosaccharides are part of an innate immune system, we addressed whether their expression (1) depends on maternal genotype and (2) protects breastfed infants from pathogens. Thus the relationship between maternal Lewis blood group type and milk oligosaccharide expression and between variable oligosaccharide expression and risk of diarrhea in their infants was studied in a cohort of 93 Mexican breastfeeding mother-infant pairs. Milk of the 67 Le(a-b+) mothers contained more LNF-II (Le(a)) and 3-FL (Le(x)) (oligosaccharides whose fucose is exclusively alpha 1,3- or alpha 1,4-linked) than milk from the 24 Le(a-b-) mothers; milk from Le(a-b-) mothers contained more LNF-I (H-1) and 2'-FL (H-2), whose fucose is exclusively alpha 1,2-linked. The pattern of oligosaccharides varied among milk samples; in each milk sample, the pattern was summarized as a ratio of 2-linked to non-2-linked fucosyloligosaccharides. Milks with the highest ratios were produced primarily by Le(a-b-) mothers; those with the lowest ratios were produced exclusively by Le(a-b+) mothers (p<0.001). Thus maternal genetic polymorphisms expressed as Lewis blood group types are expressed in milk as varied fucosyloligosaccharide ratios. The four infants who developed diarrhea associated with stable toxin of Escherichia coli were consuming milk with lower ratios (4.4 +/- 0.8 [SE]) than the remaining infants (8.5 +/- 0.8; p<0.001). Furthermore, the 27 infants who developed moderate to severe diarrhea of any cause were consuming milk with lower ratios (6.1 +/- 0.9) than the 26 who remained healthy (10.5 +/- 1.9; p = 0.042). Thus, milk with higher 2-linked to non-2-linked fucosyloligosaccharide ratios affords greater protection against infant diarrhea. We conclude that specific oligosaccharides constitute a major element of an innate immune system of human milk.     

Role of Lewis A and Lewis B blood group antigens in Helicobacter pylori infection

BACKGROUND AND AIMS: We investigated the prevalence of Helicobacter pylori infection in a large group of women to determine whether there was an association of current infection status with Lewis blood group antigen A and B phenotype. METHODS: Between November 2000 and November 2001, mothers were recruited after delivery of their offspring at the Department of Gynecology and Obstetrics at the University of Ulm, Ulm, Germany. The H. pylori infection status of the women was determined by 13C urea breath test. Their Lewis A and Lewis B phenotype was determined using standard laboratory techniques. RESULTS: In total, 22.2% of the 712 women included in the study (mean age 30.7 years) had a current H. pylori infection. The prevalence of infection varied from 15.5% in women of German nationality to 75.0% in women of Turkish nationality (p < .001). Most women (68.1%) had a Le(a-b+) phenotype. The prevalence of H. pylori infection in women with Le(a-b+) phenotypes was lower than in other women (p = .02). In multivariate analysis, the odds ratio (OR) for a current H. pylori infection given Le(a-b+) was 0.56 [95% confidence interval (CI) 0.33-0.95] compared to women with Le(a-b-). CONCLUSION: Le(a-b+) blood group phenotype in combination with secretor status may hinder colonization of H. pylori in the population studied.     

Human salivary fucosyltransferases: Evidence for two distinct α-3-L-fucosyltransferase activities one of which is associated with the lewis blood group Le gene

The occurrence of GDP-L-fucose:N-acetyl-β-D-glucosaminyl α-3-L-fucosyltransferase activity in human saliva was independent of Lewis blood group and ABH secretor status except insofar as the mean level of activity was higher in saliva from individuals with an $\text{Le}$ gene than in those whose red cells and saliva grouped as Le(a-b-). In contrast GDP-L-fucose:D-glucose α-3-L-fucosyltransferase activity was detectable in saliva from all Le(a+b-) and Le(a-b+) individuals but was absent from the salivas of Le(a-b-) donors. Isoelectric focusing experiments supported the inference that there are two distinct α-3-L-fucosyltransferase activities in saliva. Both enzymes appear to catalyse the transfer of L-fucose to the C-3 position of N-acetyl-β-D-glucosamine but only the transferase dependent upon the expression of the $\text{Le}$ gene has the capacity to transfer L-fucose to the C-3 position of D-glucose.