汉族与维族Rh血型的血清学比较研究

目的采用血型血清学技术比较汉族与维族Rh血型的特点并分析其意义.方法用抗-D、抗-C、抗-E、抗-e单克隆和多克隆抗血清常规检测Rh抗原,盐水法阴性样本用间接抗球蛋白试验确认其为Rh抗原血清学阴性,用吸收放散试验检出Del型样本.结果228例随机非血缘关系汉族RhD(-)样本中,以ccee表型多见,共130例(57.02%),其次是Ccee,68例(29.82%),第三是CCee型,11例(4.82%),未检测到CCEe型和CcEE.72例随机非血缘关系新疆维吾尔族RhD(-)样本中仅检测到ccee、Ccee和CCee三种表型,也是以ccee表型(88.89%)多见,而且比例远远高于汉族人,二者相比有极显著性差异(x2=24.33,P＜0.005).Ccee表型(5.56%)和汉族人相比也有极显著性差异(x2=17.67,P＜0.005).CCee表型和汉族人的相比无差异(x2=0.000 4,P＞0.05).228例随机非血缘关系汉族RhD(-)样本中检出42例DDel型(18.42%),而72例随机非血缘关系维吾尔族RhD(-)样本未检测到Del型.6例弱D样本均显示阳性结果,但凝集反应弱,3例"Du型"样本有两例可归为弱D型,一例用盐水法凝集反应为阴性,用间接抗球蛋白试验弱阳性,属于极弱D型.结论新疆维吾尔族人Rh血型既有东方人的特点,也有白种人的特点,是一个特殊的中华民族.     

新疆吐鲁番市维吾尔族与汉族高中生心理卫生状况研究

本研究使用自陈式问卷（包括汉语版和维吾版），对新疆吐鲁番市汉族高中生２３０人，维语尔族高中生２６２人进行心理卫生调查。结果表明，两族学生的心理卫生总体状况较好。在所调查的神经质问题、品行问题、学业问题、性活动、性回避等五个分量表上，汉族男、女生的得分分别高于维族男、女生；各族高中生学业问题得分最高，而性活动得分最低。本文对两族学生在各分量表的得分异同情况进行了讨论。     

新疆汉族和维吾尔族健康人群VKORC1启动子区基因多态性研究

目的了解VKORC1—1639A／G基因多态性在新疆汉族和维吾尔健康人群中的分布及其与国外其他不同民族之间的差异。方法采用PCR—RFLP技术对205名汉族和204名维吾尔族乌鲁木齐地区体检健康者VKORC1—1639A／G基因多态性进行检测，计算其基因型和等位基因频率，并与国外多个民族VKORC1—1639A／G基因多态性分布进行比较。结果新疆汉族和维吾尔族健康人群中共检测到2种等位基因：A和G。汉族A和G等位基因频率分别为87％和13％，维吾尔族A和G等位基冈频率分别为62％和38％。新疆汉族和维吾尔族健康人群VKORC1—1639A／G基因多态性共检测到3种基因型，新疆汉族健康人群以AA基因型常见，基因型频率74％。其次是AG基因型，基因型频率分别为26％。GG基因型的个体仅检测到1例，基因型频率小于1。新疆维吾尔族健康人群以AG基因型常见，基因型频率58％。其次是AA基因型，基因型频率分别为33％。GG基因型频率为9％。结论新疆汉族VKORC1—1639A／G基因多态性以AA基因型为主。维吾尔族VKORC1—1639A／G基因多态性以AG基因型为主，新疆汉族VKORC1—1639A／G基因多态性分布与维吾尔族人群和欧美人群存在较大差异。新疆维吾尔族人群VKORC1—1639A／G基因多态性分布与欧关人群接近。     

新疆塔城地区维吾尔族和汉族青少年尿碘的比较分析

本文采用“WHO与ICCIDD制定的碘缺乏病防治标准与方法”中规定的硫酸铈法,测定分析了塔城市504例维吾尔族、994例汉族青少年的尿碘。结果表明,维吾尔族和汉族青少年尿碘分布均服从正偏态分布。维吾尔族和汉族青少年平均尿碘间有非常显著的统计学差异(P<0.001),提示民族间存在碘代谢水平上的差异性。维吾尔族、汉族男女尿碘间均无统计学差异(P>0.05),根据百分位数,维吾尔族青少年尿碘参考值范围为53μg/L361μg/L。根据参考值维吾尔族青少年群体中的缺碘频率为9.9%(50/504);汉族青少年群体中的缺碘频率为8.4%(83/994)。两民族青少年群体缺碘频率间无统计学差异(P>0.05)。     

新疆汉族、维吾尔族健康女性6种激素水平分析

目的了解新疆地区汉、维吾尔族健康女性不同年龄组的FSH、LH、E2、P、T、PRL生殖激素水平。方法放射免疫分析法。结果对436例汉、维族女性6种激素水平的检测结果统计学处理后显示:汉、维吾尔族的激素水平因民族和年龄组的不同而仅有数值大小的变化。结论汉、维族妇女的激素水平,与不同的年龄组和民族之间t0.05无明显差异。     

中国汉族和维吾尔族RHD基因结构的比较研究

目的对比研究中国汉族和新疆维吾尔族随机非血缘关系RhD阴性个体RHD基因结构。方法采用序列特异性引物．聚合酶链反应方法检测RHD基因的上、下游和杂交的Rhesus盒，以及RHD基因的10个外显子。结果RhD阴性个体RHD基因型检测结果显示，新疆维吾尔族人与同组汉族人RHD^-／RHD^-基因型组差异有统计学意义（94．44％vs61．40％，P〈0．01），两者与RHD^＋／RHD^-基因型组（该组代表RHD单基因组）比较差异有统计学意义（2．78％vs34．21％，p〈0．01），但与RHD^＋／RHD^＋型组比较差异无统计学意义（2．78％vs4．39％，P〉0．05）。78名汉族RhD阴性个体RHD单基因结构研究显示，53名（67．95％）为RHD（1-10）型（其中非表达的14名），15名（19．23％）为RHD-CE（2．9）．晚基因型，5人（6．4l％）为RHD-CE（2-7）-D2基因型，2人（2．56％）与RHD-CE（3-6）-D型相似，1人（1．28％）为RHD．CE（5．6）．D型，2人为RHD-CE（6）-D或点突变。2名新疆维吾尔族RhD阴性个体RHD单基因型中1人为RHD（1-10）型，1人为RHD-CE（2-9）-02。结论汉族RhD^-／RHD^＋单基因型最常见非表达的等位基因依次为RHD-CE（2-9）-D2、RHD（1-10）、RHD-CE（2-7）-D2。新疆维吾尔族携带汉族常见而在白人罕见的非表达的RHD等位基因RHD-CE（2-9）-D2，显示维吾尔族和汉族两大民族基因的融合特征。     

新疆维吾尔族、汉族健康人群血清淀粉样蛋白A1基因多态性分布特征

目的 探讨血清淀粉样蛋白A1(serum amyloid protein A1,SAA1)基因标签单核苷酸多态(tagging single nucleotide polymorphism,tagSNP)rs2229338和rs12218在新疆维吾尔族和汉族健康人群中的分布特征.方法 入选新疆地区维吾尔族(n=316)和汉族(n=362)健康人群,采用限制性片段长度多态性的方法进行基因分型.结果 (1)rs2229338三种基因型在维吾尔族人群中的分布频率分别为:AA型76.6%,AG型23.4%,GG型0;在汉族人群中的分布频率分别为:AA型91.7%,AG型7.7%,GG型0.6%.两组基因型分布差异有统计学意义(P＜0.01);(2)rs12218三种基因型在维吾尔族人群中的分布频率分别为:CC型10.1%,CT型47.5%,TT型42.4%;在汉族人群中的分布频率分别为:CC型3.3%,CT型34.3%,TT型62.4%.两组基因型分布差异有统计学意义(P＜0.01);(3)rs12216和rs2229338共构建4个单倍型,其中A-C和G-T单倍型在维吾族中的分布明显高于汉族(P＜0.01),A-T单倍型在汉族中的分布明显高于维吾尔族(P＜0.01).结论 SAA1基因标签SNP在新疆汉族和维吾尔族健康人群中的分布具有明显的差异,维族人群突变频率可能高于汉族人群.     

新疆维吾尔族、汉族心房颤动KCNE1 G38S单核苷酸多态性研究

目的 探讨新疆地区维吾尔族及汉族人群心房颤动(房颤)与KCNE1 G38S的关系.方法 收集新疆地区维吾尔族房颤患者237例及汉族房颤患者251例,以年龄和性别为配对条件,按1∶1比例分别选取维吾尔族对照237例及汉族对照251例,采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)鉴定KCNE1 G38S基因型及等位基因分布.结果 在汉族人群中,KCNE1 G38S基因型及等位基因频率,未证实与房颤有关(GG,GS,SS 3种基因型在病例组及对照组为122∶116,98∶109,31∶26,P=0.556;G,S等位基因频率在病例组及对照组为342∶341,160∶161,P=0.946).进一步控制冠心病、高血压、糖尿病、吸烟及饮酒等混杂因素后,多因素Logistic回归分析显示差异仍无统计学意义(P=0.698).在维族人群中,病例组与对照组之间基因型及等位基因频率分布差异有统计学意义(GG,GS,SS 3种基因型在病例组及对照组为96∶72,103∶106,38∶59,P=0.018;G,S等位基因频率在病例组及对照组为295∶250,179∶224,P=0.003).多因素Logistic回归分析显示,KCNE1 G38S是维吾尔族房颤患者的独立危险因素之一(OR=1.634,95％CI:1.192-2.240,P=0.002).结论 KCNE1 G38S单核苷酸多态性在维吾尔和汉族房颤患者中的分布有差异.在汉族人群中,KCNE1 G38S多态性与房颤无相关性;在维族人群中,KCNE1 G38S是维吾尔族房颤患者的独立危险因素之一.     

汉族与维族Rhesus盒的比较研究

目的 研究汉族与维族Rhesus盒的异同及其意义。方法 根据RHD基因上游盒、下游盒及杂交盒的DNA序列特异性设计引物，用聚合酶链反应一序列特异性引物和错配PCR技术检测上游、下游和杂合的Rhesus 盒。结果 在随机非血缘关系Rh阴性汉族人中61．40％为RHD^-／RHD^-型，34．21％为RHD^＋／RHD^-型，4．39％为RHD^＋／RHD^＋型。而在新疆维吾尔族人中，检测结果分别为94．44％、2．78％和2．78％。其它6份部分少数民族样本均为RHD^-／RHD^-型。RHD^-／RHD^-型组和RHD^＋／RHD^-型组中，新疆维吾尔族人的检测结果与汉族人相比差异有统计学意义（P〈0．01）。在RHD^＋／RHD^＋型组，两者相比差异无统计学意义（P〉0．05）。结论 新疆维吾尔族人Rh血型既有东方人的特点，也有白人的特点，是一个特殊的中华民族，这与人类学研究结果相符。     

HLA phenotypes and severe Rh(D) immunization

Abstract: Blood samples from 24 Rh(D) immunized women were analyzed for antibody titers and quantification of anti-D. The HLA-DR and -DQ polymorphisms were identified as RFLP. In 11 women with titers 16–256 the HLA- DQB1 allele *0201 was found in 18%, i e as in a reference population. In 13 women with titers ≥ 512 the HLA - DQB1 allele *0201 was found in 85% indicating a correlation between severe Rh(D) immunization with high titers/quantification values and the DQB1 allele *0201. In this group the fetus was severely affected by the immunization and treatment during pregnancy was frequently needed. HLA phenotyping of women known to have anti-D antibodies early in pregnancy seems to be an effective way to assess the probability of severe hemolytic disease of the newborn.     

Rh阳性个体RHD杂合性分析

目的 分析中国汉族Rh(D)阳性个体的RHD杂合性,讨论Rh阴性妇女产前Rh同种免疫预防策略.方法 血清学检测31 115名汉族捐血者的Rh(D)表型,分析Rh(D)阳性个体的RHD杂合率;对其中3628名随机Rh阳性个体采用PCR方法直接测定RHD合子型,计算杂合率与前者比较.结果 31 115名捐血者中采用间接抗人球蛋白试验(indirect antiglobulin test,IAT)确认99名个体为Rh(D)阴性(0.318%),d基因频率0.056 41,D基因频率0.943 59,Dd杂合型0.106 45(10.6%),考虑IAT检测D放散型为Rh(D)阴性,计算后实际Dd杂合型为0.090 32(约9.0%);PCR测定3628名Rh阳性个体RHD合子型测定显示DD纯合型3383人(93.2%),Dd杂合体245名(6.8%),由于无效RHD等位基因的PCR结果为阳性(D),重新分析后实际携带1条功能性RHD基因的杂合性个体约7.4%.提示中国汉族Rh(D)阴性妇女当配偶为Rh(D)阳性时,子女Rh(D)阴性的比率约3.7%～4.5%.结论 中国新生儿Rh同种免疫预防进行侵入性胎儿Rh(D)血型预测意义不大,或可直接假定新生儿为Rh(D)阳性进行产前检查和同种免疫防护.

Abstract：

Objective To investigate the RHD zygosity of Rh(D)-positive Chinese Hans in order to study the mother-fetus Rh isoimmunization prophylaxis. Methods Rh(D) blood group of 31 115 donors were serotyped, and the RHD zygosities were analyzed, or determined through a PCR method for 3628 donors of Rh(D)-positive individuals. Results Among the 31 115 donors, 99 were tested Rh(D)-negative by indirect antiglobulin test (IAT) (0. 318%). The d frequency was 0. 056 41, D was 0. 943 59, and Dd heterozygosity was 0. 106 45 (10.6%). However the rate was 0.090 32 (about 9.0%) after excluding DEL (IAT-negative). For the 3628 PCR tested donors, 3383 were DD (93. 2%), 245 were Dd (6.8%). After excluding nonfunctional RHD alleles, 7. 4% of the donors were carrying one functional RHD. It showed that an Rh(D)-negative Chinese Hah woman gives an Rh(D)-negative child at a rate of 3.7%-4. 5% when her husband is Rh (D)-positive. Conclusion Fetus Rh (D)-genotyping may be unnecessary for Chinese Hans if invasive operation was needed for prenatal diagnosis. The Rh prophylaxis could be chosen assuming an Rh(D)-positive fetus.     

Distribution of MICA haplotypes in a Chinese Han population

The MICA gene encodes nonclassical major histocompatibility complex class I molecules, centromeric to HLA-B and telomeric to HLA-DRB1. The MICA genes are polymorphic. The immune response against MICA may correlate with a decrease in graft survival after transplantation. However, data on the frequency of MICA polymorphisms in different populations are limited. In this study, we determined MICA allelic frequencies in a Han population living in Guangdong Province in south China. A total of 15 MICA alleles were identified using sequence-based typing. The most frequent allele was MICA*010 (22.22%), followed by MICA*002:01(18.56%), MICA*008:01(16.32%), and MICA*019(14.93%). The MICA null gene (MICA*Del) exhibited a frequency of 1.743% in this population. MICA and HLA, MICA-HLA-B, and MICA-HLA-A/HLA-B/HLA-DRB1 haplotype frequencies were estimated. The most common 2-, 3- and 4-locus haplotypes were HLA-B*40:01-MICA*008:01 (13.70%), HLA-A*11:01-B*40:01-MICA*008:01(8.25%), and HLA-A*33:03-B*58:01-DRB1*03:01-MICA*002:01(5.22%). A new MICA allele, MICA*061, was identified and appears to be evolutionarily related to MICA*012:01. This study provides high-resolution information on the distribution of haplotypes with MICA, HLA-A, HLA-B, and HLA-DRB1 in China. This information should help determine the mechanisms underlying diseases and allotransplant rejection associated with MICA polymorphisms in the southern Chinese Han population.     

孕妇及胎儿Rh(D/E)免疫性溶血病的诊断与血液治疗

目的：探讨孕妇及胎儿Rh（D/E）血型不合的免疫性溶血病的治疗,预防孕妇早孕自然流产或不足月死胎.方法：用大量去除血浆和换血疗法对孕妇及胎儿或新生儿Rh（D/E）血型不合者进行治疗,以降低IgG抗D/E的含量,提高胎儿或新生儿的成活率.结果：2例孕妇及胎儿Rh（D）血型不合者去除血浆前IgG抗-D分别为512和1 024,去除血浆3周后,IgG抗-D效价降至16和32,以后间断性的治疗,减少治疗频率,保持IgG抗-D≤64,置足月行剖宫术,产下正常男、女婴儿各1名;1例Rh（E）血型不合者未经治疗而胎死宫内;另1例Rh（D）新生儿溶血病（HDN）经换血治疗而得救.1年后随访,3例婴儿发育均良好,与正常婴儿无差异.结论：大量去除血浆,同时补充高蛋白饮食是治疗孕妇及胎儿RhD/E血型不合的免疫性溶血病的好方法,换血疗法是HDN治疗的最佳选择.     

HLA-A, HLA-B, and HLA-DRB1 alleles and haplotypes in Naxi and Han populations in southwestern China (Yunnan province)

The frequencies of the human leukocyte antigen alleles HLA-A, HLA-B, and HLA-DRB1 and the A-B-DRB1, A-B, and B-DRB1 haplotypes were studied in Naxi and Yunnan Han populations using polymerase chain reaction (PCR)-sequence-specific amplification for alleles A and B and a PCR-microtiter plate hybridization method for the DRB1 allele. A total of 8 A, 19 B, and 30 DRB1 alleles were found in the Naxi population, and 15 A, 21 B, and 36 DRB1 alleles were found in Yunnan Han population. The common A-B-DRB1 haplotypes in the Naxi population were A*24-B*15-DRB1*1202, A*11-B*15-DRB1*0405, A*11-B*15-DRB1*1202, A*11-B*38-DRB1*08032, and A*11-B*55-DRB1*0405; the common A-B haplotypes were A*11-B*15, A*11-B*38, and A*24-B*15; and the common B-DRB1 haplotypes were B*15-DRB1*1202, B*38-DRB1*08032, and B*48-DRB1*1201. In the Yunnan Han population, the common A-B-DRB1 haplotypes were A*24-B*15-DRB1*1501, A*24-B*46-DRB1*08032, and A*24-B*15-DRB1*1201; the common A-B haplotypes were A*24-B*15, A*24-B*46, and A*34-B*46; and the common B-DRB1 haplotypes were B*15-DRB1*1501, B*46-DRB1*09012, and B*46-DRB1*1401. Phylogenetic tree and principal component analyzes based on HLA-A, HLA-B, and DRB1 allele frequencies suggested that the Naxi ethnic group belongs to the southern Chinese groups, while the Yunnan Han population is a characteristic population located intermediate between northern and southern Chinese groups, although they live in the southwest of China.     

贵州苗、布依、侗、水四个少数民族Rh血型分布调查分析

目的了解贵州主要的4个少数民族中Rh血型分布及基因频率，为指导Rh溶血症防治提供科学依据。方法随机整群抽取贵州苗、布依、侗、水4个民族的无关个体进行Rh血型鉴定和分析。结果共筛查4个少数民族15992人，汉族对照4851人。发现Rh（D）阴性个体51名，苗族d基因频率0．0474、Rh阴性率为0．22％。布依族d基因频率0．0602、Rh阴性率为0．36％。侗族d基因频率0．0378、Rh阴性率为0．14％。水族d基因频率0．0307、Rh阴性率为0．09％。汉族（对照组）d基因频率0．0574、Rh阴性率为0．33％。4个少数民族均有表现型CCDee型最高（52．47％～59．66％）的共同特征。同时4个民族的基因型频率均以CDe最高，分别为苗族：0．7244、布依族：0．7389、侗族：0．7410、水族：0．7743。结论贵州4个少数民族苗、布依、侗、水族Rh血型分布特征，与国内南方少数民族相似。苗、侗、水族Rh阴性比例都低于汉族（0．33％），仅布依族Rh阴性率（0．36％）接近并略高于汉族。因此，贵州少数民族中Rh新生儿溶血症发生率不高。     

GALNT2 rs4846914多态性位点在中国汉族人群分布及其对血脂的影响

目的 研究多肽N-乙酰半乳糖胺基转移酶2(N-acetylgalactosaminyltransferase 2,GALNT2)基因rs4846914位点在中国汉族人群中的分布频率,分析该位点对血脂水平和血脂异常的影响.方法 采用横断面调查方法,收集2397例(其中男性1511例,女性886例)汉族人群样本.采用MALDI-TOF MS技术检测rs4846914位点基因分型,采用多重线性回归法分析基因型对4项血脂指标影响程度的大小,二分类Logistic回归法分析基因型对血脂异常发病风险的大小,以P＜0.05为有统计学意义.结果 GALNT2 rs4846914位点A等位基因在中国汉族人群中的频率为20.4％.AA基因型人群的高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)水平显著高于GG基因型(P=0.034),女性人群AA基因型的总胆固醇(total cholesterol,TC)水平也显著高于GG型(P=0.019).在男性人群,AA基因型的低HDL-C血症发病风险是GG基因型的0.478倍.(P=0.045,OR=0.478,95％ CI:0.233-0.983).结论 中国汉族人群rs4846914位点以G等位基因为主,明显不同于西方人群以A等位基因为主的特点.中国汉族人群中,该位点AA基因型可增加血浆HDL-C水平,并减少男性低HDL-C血症发生.     

Distribution of HLA-A, -B, -Cw, and -DRB1 alleles and haplotypes in an isolated Han population in Southwest China

In this study, polymorphisms of human leukocyte antigen (HLA) class I (A, B, and Cw) and class II (DRB1) loci were analyzed in an isolated Han population living in Fengyandong in the Yunnan province of Southwest China (FYDH) using a high-resolution polymerase chain reaction–Luminex typing method. A total of 13 A, 26 B, 15 Cw, and 23 DRB1 alleles of HLA were found in FYDH. The frequencies of A*1101, A*0207, A*2402, B*4601, B*1502, Cw*0102, Cw*0801, DRB1*0901, and DRB1*1202 were >10%. The following haplotypes were common with frequencies >5%: three A-B, four Cw-B, two B-DRB1, two A-B-DRB1, three A-B-Cw, two B-Cw-DRB1, and two A-B-Cw-DRB1 phylogenetic tree and multidimensional scaling analysis based on HLA-A, -B, and -DRB1 allele frequencies of 18 Han populations suggested that FYDH was an isolated Han population, but the analytic result also provided a suggestion that FYDH was genetically related to Chinese Southern Han. According to the characteristics of the HLA allele and haplotype distributions and significantly reduced allelic and haplotypic diversity in FYDH, we deduced that genetic drift and/or selection and subsequent geographic isolation had influenced the distribution characteristics of the HLA gene in FYDH. In addition, significantly reduced allelic and haplotypic diversity in FYDH makes it an ideal homogenous population and very useful model for future investigations of issues related to immunogenetic diseases in the Han population.