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。     

红细胞血型十九种抗原在黑龙江汉族人群中的分布

对哈尔滨地区152名无血缘关系、三代均为黑龙江省人的八个红细胞血型系统的十九个抗原进行了分型,结果表明：ABO系统中B型较多,占32．24％;Rh系统中CCDE-型人数最多,占32．24％;MN系统中M型（30．26％）多于N型（25．00％）;Lewis系统中Le(a ）比例（14．48％）略低;Duffy系统中未发现Fy(a-b-)型;Kidd系统中Jk(a )型高达72．37％;Dicgo系统中Di(a )型频率（3．29％）和P系统中P1型频率（ 31．58％）均低于国内其他地区汉族。     

客家人的红细胞血型分布

对父母双方上溯三代均为客家人的广东梅县200名 (其中男89人,女111人) 健康学生进行了红细胞血型ABO,MNSs,Rh,Kidd,Duffy,Diego,Xg,Lewis及P等系统的分布调查。结果显示,客家人的基因频率S=0.0250,NS=0,pl=0.0917和Fyb=0.0300,都是汉族人群中最低的。其它基因频率为r=0.6632,p=0.1863,q=0.1505;m=0.5250,n=0.4750,MS=0.0250,Ms=0.5000,Ns=0.4750,s=0.9750;C=0.6575,D=1.0000,E=0.1515,CDe=0.6226,cDE=0.1200,cDe=0.2189,CDE=0.0389;JKa=0.4642,JKb=0.4881,JK=0.0477;Fya=0.9700;Dia=0.0202,Dib=0.9798;Xga=0.3633,Xg=0.6367;P2=0.9083。发现了国内第二例Jk(a-b-)表型,未发现MNS型,NS型,NSs型,CCDEE型,CcDEE型,Fy(a-)型和Rho(-)型。Le(a+b-)型29人,Le(a+b+)型2人,Le(a-b+)型67人,Le(a-b-)型102人。客家人与国内19个群体的遗传距离计算结果表明,与客家人遗传距离最近的是福建汉族、湖南苗族、贵州汉族及广西侗族,其次为河南汉族、黑龙江汉族、陕西汉族,福建畲族及上海汉族,而与云南白族、辽宁满族、甘肃汉族、广西瑶族、广西壮族、内蒙汉族及四川彝族的遗传距离较远。与客家人遗传距离最远的是湖南土家族、海南苗族及海南黎族。     

我国人异常血红蛋白的研究 Ⅳ.一例血红蛋白Stanleyville-Ⅱ的一级结构分析

Hb Stanleyville-II(α78(EF7)Asn→Lys)是一种慢速血红蛋白,已在中非等地发现多例。本文报道在广州市儿童医院住院病人中发现的一例Hb Stanleyville-II的化学结构分析结果。先证者为4个月婴儿,男,汉族,祖籍广东南海县。家系调查发现先证者的祖母和父亲均携带有相同的异常Hb。血液学检查显示所有检查对象均未因有此变异体而影响临床和血液学有不正常的改变。     

我国人异常血红蛋白的研究——Ⅳ.一例血红蛋白Stanleyville-Ⅱ的一级结构分析

Hb Stanleyville-Ⅱ(α78(EF7)Asn→Lys)是一种慢速血红蛋白,已在中非等地发现多例。本文报道在广州市儿童医院住院病人中发现的一例Hb Stanleyville-Ⅱ的化学结构分析结果。先证者为4个月婴儿,男,汉族,祖籍广东南海县。家系调查发现先证者的祖母和父亲均携带有相同的异常Hb。血液学检查显示所有检查对象均未因有此变异体而影响临床和血液学有不正常的改变。     

我国人异常血红蛋白的研究——一例Hb Russ的化学结构分析

本文首次报道在我国人群中发现的一例Hb Russ(α51(CE9)Gly→Arg)的化学结构分析结果。先证者为新生儿,汉族,祖籍广东新会县人。家族调查结果显示先证者的父亲、四姑和祖母均携带有相同的异常Hb,这种变异体含量为10.1～15.3%。所有检查对象均有轻度贫血症状和红细胞形态改变,但因Hb A_2、F测定未能成功,故不能排除患者合并地中海贫血。     

我国人异常血红蛋白的研究——一例Hb Russ的化学结构分析

本文首次报道在我国人群中发现的一例Hb Russ(α51(CE9)Gly→Arg)的化学结构分析结果。先证者为新生儿,汉族,祖籍广东新会县人。家族调查结果显示先证者的父亲、四姑和祖母均携带有相同的异常Hb,这种变异体含量为10.1～15.3%。所有检查对象均有轻度贫血症状和红细胞形态改变,但因Hb A_2、F测定未能成功,故不能排除患者合并地中海贫血。     

NOTCH3基因c.520T>G突变致CADASIL一家系报告及文献复习

目的:研究探讨一CADASIL家系的临床特征及基因突变情况。方法:收集同一家系中3例CADASIL患者的临床资料,并对3例患者及先证者之兄进行全外显子测序(Whole Exome Sequencing, WES)。结果:该家系中3例患者临床表现多样,女性患者均有头痛病史,先证者及先证者之姐中年起病,先证者临床表现缺乏特异性,主要表现为头昏,认知功能检查正常,心理评估示轻度焦虑抑郁状态。先证者之姐主要表现为假性球麻痹及锥体束受损,认知功能检查示重度痴呆。先证者之女自4岁起诊断为癫痫-失神发作,认知功能检查示轻度认知功能障碍。影像学显示该家系3例患者均有脑白质病变,且随着年龄增大呈进行性发展,WES显示3例患者均存在NOTCH3基因第4外显子区域杂合突变:c.520T>G,导致氨基酸改变p.Cys174Gly。结论:NOTCH3基因c.520T>G所致该家系的临床表现具有多样性,且该家系中下一代起病较早,临床表现可与父代具有较大异质性,影像学表现可在青少年时期出现,并呈现进行加重的趋势。WES显示该家系中NOTCH3基因突变为第4外显子的杂合突变,该位点突变致CADASIL为国内首次报道。     

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。     

The Rh phenotype r'r' in Polynesians

Since 1970, 19 persons with the r'r' phenotype have been detected at the Auckland Blood Transfusion Centre. All have been Maoris or Pacific Islanders. This study reports the detailed serological investigations on 11 r'r' samples. No evidence was found for the presence of the Du antigen, and there was no evidence that the Polynesian r' was related to the Negroid r'. It is postulated that the r' (Cde) of Polynesians arose from a mutation of CDe. No morphological abnormalities of r'r' red cells were found. Blood samples were also tested for various high- and low-frequency antigens, and one specimen was found to be r'r' Jk(a-b-).     

The frequencies of Kidd blood group antigens and phenotypes among Saudi blood donors in Southwestern Saudi Arabia

BackgroundThe patients who require transfusion are prevalent in the Jazan Province, Saudi Arabia. Therefore, it is essential to know the frequency of blood group antigens in such a population. The Kidd blood group system (JK) has two antithetical antigens, Jk^a and Jk^b. Antibodies to these antigens may result in delayed hemolytic transfusion reactions. The present study investigated the frequencies of Jk^a and Jk^b and the phenotypes among Saudi blood donors living in the Jazan Province.MethodsOne hundred and forty-three samples from anonymous Saudi volunteer blood donors in the Jazan Province were serotype to detect Jk^a and Jk^b using gel card technology and determine the phenotypes of the JK blood group system.ResultsThe prevalence of Jk^a and Jk^b antigens were 90.64% (n = 126) and 69.40% (n = 93), respectively. The JK phenotypes were 34.96% Jk(a + b ? ) (n = 51), 12.59% Jk(a ? b + ) (n = 18), 52.45% Jk(a + b + ) (n = 75), and 0% Jk(a ? b ? ). The frequencies of the JK phenotypes in the Jazan population were significantly different from those in the Asian population (P < 0.05).ConclusionsWe reported the frequencies of the Jk^a and Jk^b antigens and the distribution of the JK phenotypes in a group of Saudi blood donors in the Jazan Province, Saudi Arabia. The phenotype Jk(a + b + ) was the most common among the study population. Furthermore, this study emphasizes the significance of identifying the frequency of JK antigens and phenotypes in the provinces of Saudi Arabia.     

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。     

A shared kappa reciprocal fragment and a high frequency of secondary Jk5 rearrangements among influenza hemagglutinin specific B cell hybridomas

Ig kappa-chain gene rearrangement results in the displacement or loss of the DNA immediately 5' of Jk. This retained DNA is found on a different size fragment than in the germline (a reciprocal fragment), and contains the reciprocal joint of rearranged Vk and Jk genes, the back-to-back fusion of the heptamer/nonamer recombination signals. B cells of independent origin rarely have reciprocal fragments of the same size. However, we report that 9 of 15 B cell hybridomas of independent origin have reciprocal fragments of the same size (8-kb BamHI fragments) unrelated to their productive rearrangements. An 8-kb reciprocal fragment has also occurred on about 25% of the kappa alleles of normal splenic B cells. We find that the reciprocal fragments in two of these hybridomas contain the reciprocal joints of Jk1 genes and different Vk8 genes. In addition, we find that at least 8 of the 12 Jk4 or Jk5 expressing hybridomas have undergone double recombinations on their productive kappa alleles. The implications of these findings on the high frequency of 8-kb reciprocal rearrangements and on Vk rearrangement are discussed.     

A novel mutation at the JK locus causing Jknull phenotype in a Chinese family

Jk (kidd) blood group antigens are carried by the urea transporter UT-B[1,2]. The Jknull phenotype, lack-ing urea permeability in erythrocytes[3,4], has a very low frequency in all populations except Polynesians and Finns[5]. In Japan, only 14 individuals with Jk (a-b-) phenotype were identified from 638460 screened donor’s blood samples using the 2 mol/L urea solution hemolysis test[6]. The frequency of Jknull is 0.27% in Polynesian, about 0.03% in Finland[7], and extremely rare in Fran…     

Association of duffy blood groups with the suckle cell trait

Summary Among a small group of Saudi Arabs the Duffy blood group (Fy(a-b-)) was found to be associated with the sickle cell trait more often than could be explained by random gene combination thus supporting the concept that African gene flow brought the sickle cell trait to the Arabian peninsula. Based on recent observations concerning the possible role of Fy(a-b-) as a resistance factor againstvivax malaria, it is proposed that the gene combination AS FyFy is likely to be selected in areas wherefalciparum andvivax infections are endemic and mixed infections occur frequently.     

D-- and Dc- gene complexes in the coloureds and blacks of Natal and the eastern Cape and blood group phenotype and gene frequency studies in the Natal coloured population.

Following the detection of apparent exclusions in the Rh system in two Coloured (mixed race) families during paternity testing, a rare D-- gene complex was identified in one family and two examples of an unusual gene complex producing weak e and very weak or non-demonstrable f antigen in the other. The latter, which almost certainly belong to the heterogeneous collection known as Dc-, were found when the Rh phenotypes expected to give f+, instead gave f- or f+W (weak positive) results and those expected to give f-, gave f+W results. Blood group phenotype and gene frequency studies showed that the Natal Coloured population contains a mixture of approximately 40% Black, 30% White and 30% Indian (Asian) genes. The phenotypes A1 high H, B high H, B low H, K+ and Kp(a+) associated with Caucasoids and the phenotypes Abantu, Dantu+, hrS- (Rh: -18,-19), hrB- (Rh: -31,-34) and Fy(a-b-) associated with Negroids were all represented. The DCe/Dc- frequency was 6.9% and the DcE/Dc- frequency 2.6%.     

Robust estimation of parasite component community richness.

The performance of 2 nonparametric estimators of species richness, the bootstrap (S(B)) and kth-order jackknife (S(Jk)), are compared using simulated parasite communities. The parameters of the simulation match those of an earlier comparison that favored S(B) as an estimator but did not include S(Jk). S(Jk) is the least biased of the 2 estimators. Whereas the bias of S(B) is significantly affected by true species richness and the proportion of rare species, the bias of S(Jk) is relatively insensitive to changes in these parameters, and is, therefore, recommended as a robust estimator of species richness.