FCGR3B polymorphism in three ethnic Chinese populations

Fc gamma RIIIb receptor is expressed primarily on neutrophils as three polymorphic antigens (HNA-1a, HNA-1b, and HNA-1c) that are encoded by alleles FCGR3B*1, FCGR3B*2, and FCGR3B*3, respectively. These antigens play an important role in immune neutropenia; their absence predisposes individuals who lack them to life-threatening infections. This study investigated the FCGR3B gene frequencies in three ethnic Chinese populations: Han, She, and Tajik. FCGR3B*1, FCGR3B*2, and FCGR3B*3 were genotyped by PCR using sequence specific primers (PCR-SSP). The results showed the gene frequencies were 0.55 for FCGR3B*1 and 0.45 for FCGR3B*2 in 177 Han individuals, 0.69 for FCGR3B*1 and 0.31 for FCGR3B*2 in 87 She individuals, and 0.35 for FCGR3B*1 and 0.65 for FCGR3B*2 in 99 Tajik individuals, respectively. The FCGR3Bnull genotype was not found, but the FCGR3B*3 allele was identified in only three individuals in the Tajik population. DNA clone and sequencing confirmed that these individuals had the C ==>A mutation at position 266 on exon 3. This study found that the gene frequencies in Han and She ethnic groups were similar to those previously reported in the Asian population, but the FCGR3B allele frequencies in the Tajik population were more similar to that of Caucasians.     

Human platelet alloantigen systems in three Chinese ethnic populations

Knowledge of the prevalence of human platelet antigens (HPA) in different populations is important for effective diagnosis and management of immune-mediated platelet disorders. The purpose of this study was to determine HPA gene frequencies in the majority Han ethnic population of China and in ethnic She and Tajik minority populations. Using PCR sequence specific primers, HPA- 1, -2, -3, -4, -5, and -6, we determined genotypes for ethnic Han, She, and Tajik blood donors. HPA gene frequencies for Chinese Han were found to be similar to those of She, reflecting the historic affinities of these two populations. HPA gene frequencies for Tajik were closer to those for Caucasians than to Chinese Han, She, or other Asian populations, reflecting their disparate origin and historic geographic isolation. HPA gene frequencies in these Chinese populations reflect their historic origins. Knowledge of these findings may be used to better understand and treat immune-mediated platelet disorders in these populations.     

Ethnic variation of the HLA-G*0105N allele in two Chinese populations

Unlike high polymorphic classical human leukocyte antigen (HLA) class I molecules, the genetic polymorphism of HLA-G is very limited. However, the prevalence of HLA-G alleles among different ethnic populations varied dramatically. The HLA-G null allele (HLA-G*0105N) is defined by a cytosine deletion (ΔC) at position 1597 in exon 3, which disrupts the reading frame and alters the expression of HLA-G proteins. The HLA-G*0105N allelic frequency was investigated in previous studies and possible roles were addressed. In the current study, a total of 310 Chinese Han and 260 Chinese She ethnic minority population had been genotyped for the G*0105N polymorphism. Marked difference was observed that the G*0105N allelic frequency in Chinese Han was 1.61%, while no copy of the null allele was observed in the Chinese She minority population ( P _c = 0.0073). Data also revealed that no homozygote of HLA-G*0105N allele exists in this Chinese Han population. Furthermore, significant difference was found for the frequencies of HLA-G*0105N both in Chinese Han and in Chinese She populations when compared with other ethnic populations. Taken together, our results indicated that ethnic variation of the HLA-G*0105N polymorphism among different ethnic populations is possibly the result of evolution. However, the advantages of the selection of this allele are necessary to be further investigated.     

云南昆明白族、汉族、彝族儿童HLA-DQA1等位基因多态性分析

为了解昆明白族、汉族、彝族儿童HLA-DQA1等位基因多态性。采用PCR-SSP技术对昆明地区无血缘关系的3个民族儿童的HLA-DQA1等位基因进行分析。结果显示3个民族儿童HLA-DQA1基因位点上共检出14种等位基因。其中昆明白族儿童HLA-DQA1最常见的等位基因为*0601(16.67%),高频等位基因为*0103、*0102、*0303;昆明汉族儿童HLA-DQA1最常见的等位基因为*0302(26.67%),高频等位基因为*0103、*0601;昆明彝族儿童HLA-DQA1最常见的等位基因为*0601(38.57%),除*0601外没有高频等位基因,余基因频率均小余10%,同时在基因排序上3个民族也存在着差异。结果提示,昆明地区3个民族儿童HLA-DQA1基因分布既有共同特点,又有其独特性。     

SDFl-3'A在云南11个少数民族群体中的分布

目的 为调查HIV-1感染相关等位基因SDF1-3'A在我国云南省11个少数民族群体中的频率和多态性分布.研究的人群包括599例中国少数民族群体个体(来自8个民族),他们均为健康无血缘关系个体.方法 从上述人群外周血中抽提基因组DNA,然后采用PCR和PCR-RFLP等方法进行基因分型.结果 411例是野生纯合子基因型,160例为杂合子基因型,28例为突变纯合子基因型.上述各群体等位基因型的分布符合Hardy-Weinberg平衡.11个民族群体的平均突变基因频率为0.176,等位基因频率范围分布在0.09～0.28之间,11个民族群体之间差异具有统计学意义(P<0.05).值得注意的是云南特有的独龙族突变基因频率最低为0.091.结论 单独从SDF1-3;A这一与艾滋病相关的遗传位点来分析,个体对于HIV病毒的抵抗保护性与目前中国人群艾滋病的流行病学状况并不一致.大部研究群体的突变基因频率均低于汉族群体,该突变基因在艾滋病发病过程中的影响值得进一步深入研究.     

湖南地区汉族人多巴胺D4受体基因48 bp可变数目串联重复多态性分布

目的 了解湖南地区汉族人群多巴胺D4受体（dopamine D4 receptor，DRD4）基因48 bp可变数目串联重复（variable number tandem repeat,VNTR）多态性基因型及等位基因的频率分布。方法 随机抽取湖南地区304名汉族健康正常人，采用聚合酶链反应、变性聚丙烯酰胺凝胶电泳结合银染技术检测基因型和等位基因的频率。结果 （1）湖南汉族人群DRD4基因48 bp VNTR多态性共检测出7种等位基因、12种基因型。最常见的等位基因是5等位基因（DRD4＊5），频率为70．6％。（2）湖南汉族人群DRD4基因48 bp VNTR多态性各等位基因频率与中国上海、北京、四川地区人群存在明显的差异。（3）湖南汉族人群DRD4基因48 bp VNTR多态性各等位基因频率与日本、美国、墨西哥、意大利人群也存在明显差异。结论 DRD4基因48 bp VNTR多态性分布存在不同程度的地区差异和种族差异。     

吉林汉族人群HLA-A高分辨基因的多态性分析*

背景：HLA与免疫遗传学、免疫生物学密切相关,其分型对于器官移植和非感染性疾病的易感性有重要意义。 目的：调查吉林汉族人群HLA-A位点基因多态性,分析不同人群HLA-A等位基因频率分布特征。 方法：采用基因测序技术检测2 196名吉林汉族人HLA-A位点第2、3、4外显子序列,软件分析得到分型结果,计算各等位基因频率并与不同人群进行比较。 结果与结论：共检测到42种HLA-A等位基因,其中3种等位基因频率≥5%,分别是HLA-A*02:01(8.5%),HLA-A*11:01(8.2%)和HLA-A*24:02(7.3%),这3种等位基因频率合计为24.0%。同时,检测到39种等位基因频率<0.5%的HLA-A等位基因,这39种等位基因频率合计为76.0%。吉林汉族人群HLA-A等位基因频率分布与美国亚裔人群、中国香港华人、日本人相比存在一定差异。提示吉林汉族人群HLA-A基因的分布有地域特征。      

Analysis of the 14 bp insertion and deletion polymorphism in human leukocyte antigen-G gene in two Chinese ethnic populations

The biological significance of human leukocyte antigen-G (HLA-G) is now beyond its initial concepts on the fetal-maternal immune regulation. HLA-G in various pathophysical conditions has been investigated, such as autoimmunity, tumor, inflammation and transplantation. HLA-G has also been postulated as a chemotherapy response marker both in protein and in genetic contexts. In the current study, a total of 640 Chinese Han and 258 Chinese She ethnic minority populations had been genotyped for the 14 bp insertion (+14 bp) and deletion (-14 bp) polymorphism in the HLA-G gene. Significant difference was observed for both the +14 bp/+14 bp (15.2% in the Han and 6.6% in the She; P = 0.00048, P(c) = 0.00097) and -14 bp/-14 bp (34.5% in the Han and 50.4% in the She; P = 1.05 x 10(-5), P(c) = 2.1 x 10(-5)) genotypes between the two populations, and similar significance was found for both +14 bp (40.3% in the Han and 28.1% in the She) and -14 bp allele distributions (P = 1.2 x 10(-6), P(c) = 2.4 x 10(-6)). Furthermore, frequencies of the 14 bp genotype and alleles both in the Chinese Han and in the Chinese She populations were compared with other ethnic populations. Data showed that dramatic variations between different ethnic populations were also observed for this polymorphism. In summary, our results indicate that heterogeneity of the 14 bp polymorphism in the HLA-G gene among different ethnic populations is possibly the result of evolution.     

广东汉族人群HLA-B基因多态性研究

目的调查广东汉族人群HLA-B位点基因多态性，比较不同人群HLA—B等位基因频率分布特征。方法应用测序技术测定562名广东汉族人HLA-B位点第2、3、4外显子序列，比对数据库得到分型结果，计算HLA-B等位基因频率并与不同人群进行比较。结果共检测到59种HLA-B等位基因，其中6种等位基因频率≥5％，分别是HLA-B＊4601（14．5％），HLA-B＊400101（14．4％），HLA—B＊1502（11．5％），HLA—B＊1301（8．6％），HLA-B＊5801（8．1％）和HLA-B＊380201（6．4％）。这6种等位基因的等位基因频率合计为63．5％。同时，检测到30种等位基因频率〈0．5％的HLA-B等位基因，这30种等位基因的等位基因频率合计为4．9％。广东汉族人群HLA-B等位基因频率总体分布与中国香港华人、新加坡华人比较差异无统计学意义（P〉0．05），但与日本人比较差异有统计学意义。结论分析了HLA-B基因在广东汉族人群中的分布特征，提供了较完整的HLA-B等位基因频率分布资料，为遗传学及疾病相关性等研究提供了重要的参考数据。     

Frequencies of the major alleles of the Diego, Dombrock,Yt, and Ok blood group systems in the Chinese Han, Hui, and Tibetan nationalities

The frequencies of the major alleles of the Diego,Dombrock,Yt,and Ok blood group systems in the Chinese Han, Hui, and Tibetan nationalities were determined using a DNA-based PCR-sequence-specific primers (SSP) genotyping technique. The frequencies of Dia, Dib, Doa, and Dob genes were 0.0295, 0.9705, 0.1159, and 0.8841 in 220 Chinese North Han, respectively. The Yta gene frequencies were 0.9928, 0.9917, and 0.9983 in 277 Han, 300 Hui, and 303 Tibetan blood donors, respectively. No Ok(a-) individuals were found in 304 Han, 300 Hui, and 303 Tibetan individuals.     

新疆维吾尔族、汉族阿尔茨海默病LRP基因766C/T多态性关联分析

目的 探讨新疆地区维吾尔族、汉族低密度脂蛋白受体相关蛋白基因(low density lipoproteinreceptor-related protein gene,LRP)766C/T多态性与阿尔茨海默病(Alzheimer's disease AD)的关系.方法 对新疆地区维吾尔族、汉族≥50岁8284名人群进行AD流行病学调查,参照ADRDA-NINCDS的标准,选取AD患者209例与正常对照220名,应用聚合酶链反应-限制性片段长度多态技术检测LRP基因766C/T多态性,采用病例-对照的关联分析方法进行基因型和等位基因频率分析.结果 (1)新疆维吾尔族、汉族之间LRP基因的基因型和等位基因分布频率差异有统计学意义(P<0.05).(2)汉族病例组与对照组间基因型和等位基因频率分布差异有统计学意义(P<0.05).(3)在年龄≥65岁的病例组与对照组间基因型和等位基因频率分布差异有统计学意义(P<0.05),且此年龄组携带C等位基因的个体发生AD的危险性显著增加(OR=1.98,P<0.05).(4)在女性病例组中C/C基因型分布频率和C等位基因频率显著高于对照组(P<0.05),女性携带C等位基因的个体发生AD的危险性显著增加(OR=2.927,P<0.05).结论 新疆维吾尔族和汉族之间LRP,基因766C/T多态性存在差异,并发现在汉族、年龄≥65岁及女性人群中LRP基因766C/T多态性与AD的发病风险存在关联.     

广西壮族与汉族人群ER-β基因遗传多态性的研究

目的　观察雌激素受体 β(ER β)基因RsaI和AluI多态性在广西壮、汉两民族中的分布。 方法　采用PCR RFLP方法检测壮族人和汉族人RsaI和AluI多态性 ,并与新加坡人群的分布进行比较。结果　RsaI等位基因R、r频率在壮族与汉族两个民族正常人群中分别为 4 1.9%、5 8.1%和 4 1.8%、5 8.2 % ;AluI等位基因A、a频率分别为 13.1%、86 .9%和 14 .6 %、85 .4 % ,ER β基因RsaI和AluI多态性在壮、汉两民族中比较差异均无显著性 (P >0 .0 5 )。二者与新加坡人群比较 ,发现ER β基因型分布及等位基因频率有显著差异(P <0 .0 1)。结论　ER β基因RsaI和AluI多态性在广西壮、汉两民族分布无显著性 ,但与新加坡人群分布有明显的差异。这种差异可能是导致一些疾病在不同种族、不同地区间的发生、转归和预后不同的遗传因素之一。     

广西壮族HLA-DRB1基因的多态性及其与主要周边民族的比较

目的通过比较壮族和主要周边民族HLA-DRB1座位的等位基因多态性，探讨壮族的起源、迁徙及其与周围民族的关系。方法应用PCR-序列特异引物(PCR-SSP)对广西壮族265名健康、无血缘关系、随机抽样的广西籍壮族成年人(17～32岁)进行HLA-DRB1等位基因分型并进行相应等位基因频率的比较。结果在所设计的23对引物中共检出13个HLA-DRB1等位基因，未检出的等位基因亦为13个。频率最高的等位基因依次是HLA-DRB1*1501、-DRB1*1601／2和-DRB1*1401／4．分别为0．291、0．198和0．106；HLA-DRB1*0701／2、-DRB1*08和-DRB1*1306／1406虽检出，但数量很少；壮族人HLA-DRB1座位等位基因总的分布格局与布依族最接近，其次是泰国东北部群体、中国南方汉族及新加坡华人，与北方汉族和越南河内京族则相差较远。另外，HLA-DRB1*1502等位基因的空白是壮族异于东南亚群体的特征性之一。结论极为相似的HLA-DRB1背景提示壮族和布依族之间密切的遗传学关系。     

中国山东地区汉族人群血小板特异性抗原-15基因多态性分析

目的:分析山东地区汉族人群血小板特异性抗原(HPA)15基因多态性分布特点。方法:采用PCR-序列特异性引物(PCR-SSP)技术对108例无血缘关系汉族人进行HPA-15基因分型,计算等位基因频率、基因型频率并与其他种族、地区人群相关资料比较。结果:等位基因HPA-15a和HPA-15b分布频率分别为0.5139和0.4861;基因型HPA-15a15b、-15a15a、-15b15b频率依次为0.2407、0.2130、0.5463;HPA-15基因分布与越南、德国、奥地利人近似,而与印地安人差异有显著性(P<0.05)。结论:山东地区汉族人HPA-15基因存在多态性,并具有明显的种族和地域性差异。     

Distribution of HLA gene and haplotype frequencies in Taiwan: a comparative study among Min-nan, Hakka, Aborigines and Mainland Chinese

A total of 8,497 blood samples were typed for HLA-A, B, DR and DQ. Of these, 7,137 Min-nan, 714 Hakka, 535 Mainland Chinese (152 from North China, 211 from Middle China, and 172 from South China) and 111 Aborigines were randomly selected from Tzu Chi Taiwan Marrow Donor Registry (TCTMDR). Differences in HLA gene and antigen frequencies have been observed between various ethnic groups of the Chinese population in Taiwan. The phylogenic tree shows Taiwan Aborigines and Javanese cluster together; Min-nan shares a common cluster with Hakka, Southern Hans and Thai; and Northern Hans shares a cluster with Middle Hans. The separation between Northern/Middle and Southern Chinese Hans support the idea that Northern and Southern Chinese have different genetic background. Aborigines appeared to be quite distinct in the distribution of a majority of the class I and class II antigens. High frequency of HLA-A24 (60.4%) and relatively restricted HLA polymorphisms are noted in Aborigines. The HLA haplotypes with high frequency in Aborigines included A24-B60-DRB1*04, A24-B60-DRB1*14, A24-B48-DRB1*04, and A24-B48-DRB1*14, which are different from the other ethnic groups. Although the phylogenic tree separates Aborigines and Han Chinese populations, 4 out of 20 most common HLA-A, -B, and -DR haplotypes presented in both Aborigines and Han Chinese may reflect an ancient common origin or intermixture between early settlers of Han Chinese and Taiwan Aborigines. The results in this study are essentially a summary of the observed gene/haplotype frequencies and differences among various ethnic groups in Taiwan.     

VNTR polymorphism of human IL1RN in Chinese Han and She ethnic populations

Interleukin 1 receptor antagonist (IL‐1Ra) is an important anti‐inflammatory molecule encoded by the IL1RN gene. The polymorphism of IL1RN characterized by variable numbers of an 86 bp tandem repeat (VNTR) sequence in intron 2 has been described. Moreover, frequencies of the IL1RN alleles vary among different ethnics. In the present study, we analysed the IL1RN polymorphism in intron 2 in 256 Chinese Han and 252 Chinese She individuals. Four alleles including IL1RN*1, *2, *3 and IL1RN*4 were identified in this study. Data revealed that the distribution of the IL‐1RN genotypes and allele was significantly different between the two Chinese populations (P < 0.001). Among them, 66.8% (171/256) and 86.5% (218/252) were homozygous for the allele IL‐1RN*1 in Chinese Han and She individuals respectively. Homozygosity for allele IL‐1RN*2 was only observed in Chinese Han with the percentage of 0.8% (2/256). Heterozygosity for IL‐1RN*1/2, IL1RN*1/3 and IL1RN*1/4 was 30.9% (79/256), 0.4% (1/256) and 1.2% (3/256) in Chinese Han, whereas only heterozygosity for IL‐1RN*1/2 was found in Chinese She (13.5%, 34/252). Frequencies of the most common allele IL‐1RN*1 and IL‐1RN*2 were 83.0% and 16.2% for Chinese Han and 93.3% and 6.7% for Chinese She respectively. The rare allele IL‐1RN*3 and IL‐1RN*4 was only observed in the Chinese Han population with the frequency of 0.2% and 0.6% respectively. Our findings suggested that the ethnic background plays an important role in IL‐1Ra gene variation in different populations.     

与成人型多囊肾病基因位点1连锁的微卫星的遗传多态性研究

目的探讨广泛应用于高加索人多囊肾病（ＰＫＤ１）基因诊断的两个微卫星在中国汉族及壮族人群中的多态性及其等位基因频率是否存在群体差异。方法用聚合酶链反应（ＰＣＲ）扩增与ＰＫＤ１连锁的两个微卫星，１０％非变性聚丙烯酰胺凝胶电泳结合ＤＮＡ序列测定检测ＰＣＲ产物。结果ＡＣ２．５和ＳＭ７两个微卫星：（１）在汉族中分别观察到１０和１１个等位基因，期望杂合度分别为６８．４％及７７．４％，多态信息含量（ＰＩＣ）分别为０．６８及０．７７；（２）在壮族中分别观察到８及９个等位基因，期望杂合度分别６７．１％及５７．５％，ＰＩＣ分别为０．６７及０．５７；（３）６个ＡＣ２．５等位基因的频率及８个ＳＭ７等位基因的频率存在群体差异（Ｐ＜０．０５）。结论ＡＣ２．５和ＳＭ７在汉族和壮族中均高度多态（ＳＭ７在壮族中稍差），可用于汉、壮族人ＰＫＤ１基因诊断。同时，这两个微卫星的等位基因频率分布具有群体差异，在应用它们进行基因诊断和疾病关联性研究时应引起注意。     

Polymorphism of HLA class I genes in Meizhou Han population of Guangdong, China

Human leukocyte antigen (HLA) is an invaluable marker for anthropological studies because of its extreme polymorphism. Most of the studies carried out in Chinese populations are about HLA class II genes, but few about class I genes. In the present study, we investigated HLA class I polymorphism using polymerase chain reaction-sequencing-based typing (PCR-SBT) method in 104 unrelated Han individuals in Meizhou of Guangdong, southern China. Twenty-three HLA-A, 43 HLA-B and 27 HLA-C alleles were identified and allele frequencies and two-locus (C/B) and three-locus (A/C/B) haplotypes were statistically analysed. The most frequent HLA-A allele is A*110101 with a frequency of 30.3%, followed by A*24020101 (22.2%) and A*2420 (11.6%). Among the 43 detected HLA-B alleles, B*5801 (17.0%), B*400101 (15.5%) and B*4601 (10.0%) were frequently observed. Among the 27 detected C alleles, the most predominant one is Cw*07020101 (25.8%), followed by Cw*0717 (14.7%). The most frequent HLA-C/B two-locus haplotype is Cw*07020101/B*400101 (10.1%). The most common HLA-A/C/B three-locus haplotype in Meizhou Han is A*110101/Cw*07020101/B*400101 (3.4%). Phylogenetic tree based on HLA class I allele frequencies genetically suggested that Meizhou Han has an affinity to southern Asian populations. The result may also reflect an admixture of Han and ethnic minorities of southern China.     

兰州地区汉族人群HLA-A、B和DRB1等位基因多态性分析

目的分析兰州地区汉族人群HLA-A、B和DRB1位点等位基因多态性特点。方法采用序列特异性引物聚合酶链反应技术对兰州地区200名健康无血缘关系的汉族个体HLA-A、B和DRB1基因座进行分型，并与西北、北方和南方汉族、西北回族、维吾尔族和藏族人群进行比较。结果兰州汉族人群中HLA-A基因座共检出14个等位基因，以A＊02，A＊11，A＊24，A＊33，A＊30，A＊01和A＊31基因最常见；HLA—B基因座共检出32个等位基因，以B＊40，B＊15，B＊46，B＊13，B＊51，B＊60，B＊58和B＊44基因最为常见；HLA-DRB1基因座共检出13个等位基因，最多见的基因依次为DRB1＊09．DRB＊15，DRB1＊12，DRB1＊04，DRB1＊11，DRB1＊07，DRB1＊08和DRB1＊14，接近北方汉族而与南方汉族有差异，与西北回族无明显差异，但与西北维吾尔族和藏族差异有统计学意义。结论兰州地区汉族人群HLA-A、B和DRB1位点等位基因多态性与南、北汉族人群存在不同程度的差异，与西北维吾尔族和藏族差异显著。     

中国汉族、维吾尔族和哈萨克族人MDR1-C3435T基因多态性研究

目的了解MDR1-C3435T的基因多态性在汉族、维吾尔族和哈萨克族健康人群中的分布差异,为临床用药提供参考。方法用PCR-RFLP的方法检测汉族、维吾尔族和哈萨克族MDR1-C3435T等位基因突变位点的分布情况。计算各民族基因型频率,并与已报道的其他民族的基因型频率和等位基因频率进行比较。结果 MDR1-C3435T基因在汉族、维吾尔族和哈萨克族三个民族中最常见的等位基因是MDR1-3435T,频率依次为汉族43.3%、维吾尔族58.0%和哈萨克族56.9%。等位基因MDR1-3435T在汉族中的发生频率显著低于维吾尔族和哈萨克族,而突变频率在维吾尔族和哈萨克族之间则无明显差异。汉族的基因突变发生频率与其他亚洲人相似,与高加索人差异显著;而维吾尔族和哈萨克族的发生频率介于亚洲人和高加索人之间。结论汉族、维吾尔族和哈萨克族的MDR1-C3435T基因型分布有明显的差异,对临床用药将产生显著影响。