Others——Single nudeotide polymorphism of calcitonin receptor gene and idiopathic hypercalciuria

Objective To explore the association of the calcitonin receptor （CTR） allelic polymorphism in the 1 377 bp region with the risk of idiopathic hypercalciuria （IH） in the Han nationality in Hubei area, and to study the pathogenesis of IH. Methods The CTR genotypes were determined by polymerase chain reaction-restriction flagment length polymorphism in 76 patients with IH and 126 healthy controls from the Han nationality in Hubei area, using restriction endonuclease AluI. Results The distri bution frequencies of AluI alleles in the 2 groups followed the Hardy-Weinberg equilibrium. The distribution frequencies of the CC, TC and TT genotypes were 73.7%, 17.1% and 9.2% in IH patient group, and 89.7%, 9.5 % and 0.8 % in control group; the distribution frequencies of C and T alleles in the 2 groups were 84.2 %, 15.8 % and 94.4 %, 5.6 %, respectively. The distribution frequencies of T and TT alleles were higher, while those of C and CC alleles were lower, compared with control group;the differences between the 2 groups were significant （P 〈 0.05）. Conclusion The results indicate that the C/T single nucleotide polymorphism in the CTR gene play a significant role in the mechanism of IH in the Han nationality in Hubei area in China. 7 refs,2 figs,2 tabs.     

HLA-DRB1 allele in 35 patients with alveolar echinococcosis in Gansu Province of China

Objective To investigate the association between histocompatibility leukocyte antigen (HLA)-DRB1 alleles and alveolar echinococcosis (AE).Methods Thirty-five patients with AE in high prevalence areas in Gansu Province of China were tested for the HLA-DRB1 gene using the polymerase chain reaction with sequence-specific primer (PCR-SSP) technique. The results were compared with those of 104 healthy individuals.Results The frequency of the HLA-DRB1*040x gene was 26% in the patient group, which was significantly higher than that in the control group (9.62%) with a relative risk (RR) of 4.45 (χ2 =13.67, P<0.01), and an etiological fraction (EF) of 0.20. The frequency of the HLA-DRB1*0701 allele was significantly lower in the patient group (2.86%) as compared to the control group (13.94%; χ2=6.67, P<0.05) with a preventable fraction (PF) of 0.30. The frequencies of other DRB1 alleles were not significantly different.Conclusion Susceptibility to AE is significantly associated with the HLA-DRB1*040x. HLA-DRB1*0701 gene might confer protection against AE in humans.     

Impact of human leukocyte antigen matching and recipients′ panel reactive antibodies on two-year outcome in presensitized renal allograft recipients

Background Renal transplantation in sensitized candidates remains a highly significant challenge worldwide. The production of panel reactive antibody （PRA） against human leukocyte antigen （HLA） is a major risk factor in presensitized recipients. The aim of this study was to evaluate the impact of HLA matching and recipients＇ PRA on two-year outcome in presensitized renal allograft recipients.
Methods We determined the percentage of panel reactivity and specificity of anti-HLA immunoglobulin （Ig） G antibodies in 73 presensitized renal allograft recipients compared with 81 unsensitized recipients （control group）. HLA genotyping of both recipients and corresponding donors was performed by PCR with sequence-specific primers （PCR-SSP）. We analyzed the factors influencing the early graft outcome （two-year rejection rates and survival rates of the grafts）, including HLA mismatching, class and degree of panel reactivity, and target antigen of donors.
Results Presensitized recipients had a worse two-year outcome than unsensitized recipients （P=0.019 for rejection rate, P=0.01 for survival rate）. The difference in number of HLA-mismatched alleles with either 6-antigen matching （Ag M） standard or amino acid residue matching （Res M） standard was not significant between the rejection and non-rejection groups of presensitized recipients or between the graft survival group and graft loss group. Compared with the control group, recipients with both PRA-I and PRA-II antibodies had a significantly worse two-year outcome （P=0.001 for rejection rate, P=0.002 for survival rate）. The two-year outcomes of the peak PRA 〉50% group and its subgroup, at-transplant PRA 〉50% group, were significantly worse compared with the control group （P=0.025 and P=0.001 for rejection rate, P=0.043 and P=0.024 for survival rate）. The rejection rates of the at-transplant target antigen positive group and its subgroup, HLA-I target antigen positive group, were significantly higher than the control group （P=0.001 and P=-0.001）, target antigen negative group （P=0.003 and P=0.001）, and peak target antigen positive with negative at-transplant target antigen group （P=0.024 and ,0=-0.002）. Two-year graft survival rates of the target antigen positive group and HLA-I target antigen positive group were significantly lower than the control group （P=0.012 and ,P=0.001）. The two-year outcome of target antigen unknown group was similar to that of the target antigen positive group. Presensitized recipients with pre-transplant plasmapheresis or immunoadsorption （PRA prepared group） had a better but non-significant two-year outcome than the control group. However, the PRA unprepared presensitized recipients were different to the control group （P=-0.004 for rejection rate and P=-0.005 for survival rate）. Hyperacute rejection （HR） occurred in three recipients with positive HLA-I target antigen and without mismatch according to Res M and in one case with positive PRA-II （for an unknown target antigen）. No HR occurred in eight cases with positive HLA-II target antigens.
Conclusions Pre-transplant PRA preparations might improve the access of presensitized patients to renal donors. Avoiding antigen-positive donors remains a fundamental measure in preventing HR and early rejections.     

HLA-DM polymorphism and risk of trichloroethylene induced medicamentosa-like dermatitis

Objective To establish the association between genetic polymorphisms of HLA-DMA and HLA-DMB and risk of developing trichloroethylene-induced medicamentosa-like dermatitis （TIMLD）. Methods Sixty-one cases were medically confirmed to have been affected with TIMLD and 60 controls were selected from exposed workers who were free from TIMLD The TIMLD cases and controls were similar in terms of age, sex, and duration of exposure. DNA was extracted both from the TIMLD cases and controls, HLA-DMA and HLA-DMB loci were amplified by using Touchdown PCR, and the alleles and genotypes were confirmed by restriction fragment length polymorphism （RFLP） and direct sequencing. Finally, the frequencies of HLA-DMA and HLA-DMB variants were compared between the two groups. Results The results showed that the frequency of HLA-DMA＊0101 and HLA-DMB＊0103 alleles was significantly increased in TIMLD patients than in controls （71.3% wv. 55.0% for HLA-DMA＊0101; P〈0.05） （11.5% vs. 3.3% for HLA-DMB＊0103; P〈0.05）. In addition, the frequency of HLA-DMA＊0102-＊0102 homozygous genotype was also significantly higher in the controls than in the patients （25.0% wv. 8.2%, P〈0.05）, whereas the frequency of heterozygous HLA-DMB ＊0101-＊0102 genotype was lower in the patients in comparison with the controls. Conclusion The polymorphisms of HLA-DM may be associated with the susceptibility to TIMLD.     

Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families

Objective To study the relationship between polymorphism of cystathionine beta synthase （CBS） gene and development of congenital heart disease （CHD）. Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method, Results The frequencies of three genotypes （w/w, w/m, and m/m） in control group were 27.2%, 58,4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67,9% in patients and 55.7% in controls CHD parents＇ genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.     

Endothelial Nitric Oxide Synthase Gene Polymorphisms Associated with Susceptibility to High Altitude Pulmonary Edema in Chinese Railway Construction Workers at Qinghai-Tibet over 4500 Meters above Sea Level

Objective To examine whether the polymorphisms of endothelial nitric oxide synthase （eNOS） gene are associated with the susceptibility to high altitude pulmonary edema （HAPE） in Chinese railway construction workers at Qinghai-Tibet where the altitude is over 4 500 m above sea level. Methods A case-control study was conducted including 149 HAPE patients in the construction workers and 160 healthy controls randomly recruited from their co-workers, matching the patients in ethnicity, age, sex, lifestyle, and working conditions. Three polymorphisms of eNOS gene, T-786C in promoter, 894G/T in exon 7, and 27bp variable number tandem repeat （VNTR） in intron 4, were genotyped using polymerase chain reaction （PCR） and confirmed with DNA sequencing. Results The frequencies of 894T allele and heterozygous G/T of the 894G/T variant were significantly higher in HAPE patients group than in the control group （P=0.0028 and P=0.0047, respectively）. However, the frequencies of the T-786C in promoter and the 27bp VNTR in intron 4 were not significantly different between the two groups. Haplotypic analysis revealed that the frequencies of two haplotypes （H3,T-T-b, b indicates 5 repeats of 27 bp VNTR; H6, C-G-a, a indicates 4 repeats of 27 bp VNTR） were significantly higher in HAPE patients （both P〈0.0001）. On the contrary, the frequencies of H1 （T-G-b） and H2 （T-G-a） were lower in HAPE patients than in healthy controls （both P〈0.001）. Conclusions Two haplotypes （T-T-b and C-G-a） may be strongly associated with susceptibility to HAPE. Compared with the individual alleles of eNOS gene, the interaction of multiple genetic markers within a haplotype may be a major determinant for the susceptibility to HAPE.     

Thyroid Examination in Low-Radiation Exposed Iraqi Clean-up Workersmlmmunogenetic Study

Aim： Twenty nine Iraqi cleanup workers at A1-Tuwaitha Research site were examined for the prevalence of thyroid disorders. Materials and Methods： Serological evidence were carried out by measuring the levels of triiodothyronine （T3）, thyroxin （T4）, thyroid stimulating hormone （TSH） and anti-thyroglobulin （anti-Tg）, anti-thyroperoxidase （anti-TPO） auto antibodies. Genotyping for HLA-DRB1 and HLA-DQB1 alleles was done by using the molecular biological technique of polymerase chain reaction-sequence specific oligonucleotide （PCR-SSO）. Results： The hormonal study revealed that T4 and T3 levels were below the normal range in five and four workers respectively, TSH was below the normal range in two （7%） workers and elevated in the other three workers （10%）. Anti-TPO and anti-Tg antibodies were also determined. The results were positive in 24% and 17% of cleanup workers respectively. Comparison between 16 cleanup workers group A （risk-group）, 13 group B （exposed） and 30 （non exposed） control showed that HLA-DQBI＊06 allele was significantly P = radiation was most prominent in HLA-DQB 1＊03, P = 0.4 when age-dependent heterogeneity in response to low doses of radiation be involved in decreased thyroid disorder risk. 0.01 lower among group A than controls group. Risk elevation by compared with exposed control. Conclusion： Our data suggest an and the immunogenetic marker such as HLA- DQB 1＊06 allele may     

Postoperative Disc Wedging in Adolescent Idiopathic Thoracolumbar/Lumbar Scoliosis: a Comparison of Anterior and Posterior Approaches

Objective To evaluate the different influences of anterior and posterior correction and fusion approaches upon disc wedging in adolescent idiopathic thoracolumbar/lumbar scoliosis. Methods The retrospective study was conducted with the medical records and radiographs of adolescent idiopathic thoracolumbar/lumbar scoliosis patients that underwent anterior （group A） or posterior （group B） correction and fusion surgery from December 1998 to May 2008. The correction of the main curve and changes of the disc wedging were analyzed. Results Fifty-three patients were included, 26 in group A and 27 in group B. The mean coronal Cobb angles of the main curve in group A and group B were significantly corrected after surgery （P〈0.05）, with an average correction rate of 75.2% and 88.2%, respectively. Upon final follow-up, the coronal Cobb angles of the two groups were 18.9°± 11.1 ° and 7.7°±5.6°, respectively, with an average correction loss of 6.8°±6.5° and 2.7°±3.3°, respectively. The coronal Cobb angle after operation and at final follow-up, and the correction rate were significantly better in group B than those in group A （P〈0.05）, while the coronal Cobb angle loss in group A was greater than that in group B （P〈0.05）. The disc wedging before operation, after operation, and at final follow-up were 3.2°±3.0° 5.7°±3.0% and 8.6°±4.4° in group A, and 2.4°±3.2° , 3.3°± 3.4°, and 3.7°± 3.6° in group B, respectively. Postoperative disc wedging was significantly larger compared with preoperative measurements in group A （P〈0.05）, but not in group B （P〉0.05）. The difference between disc wedging at final follow-up and that after surgery was significant in group A （P〈0.05）, but not in group B （P〉0.05）. Between the two groups, group A had larger disc angles after operation and at final follow-up （P〈0.05）, and a greater loss of disc angle （P〈0.05）. Conclusion For adolescent idiopathic thoracolumbar/lumbar scoliosis, posterior approach using all pedicle screws might produce a better result in terms of disc wedging compared with anterior approach.     

Plasma Homocysteine and Gene Polymorphisms Associated with the Risk of HyperUpidemia in Northern Chinese Subjects

Objective To examine the relationship between occurrence of hyperlipidemia, plasma homocysteine and polymorphisms of methylenetetra hydrofolate reductase （MTHFR） gene and methionine synthase （MS） gene. Methods A total of 192 hyperlipidemia patients were selected and divided into hypercholesterolemia group, hypertriglyceridemia group, and combined hyperlipidemia group. Another 208 normal individuals were selected as control. Total plasma homocysteine （tHcy） concentration was measured by high-performance liquid chromatography （HPLC）. Lipid profiles were measured for all subjects The polymorphisms of MTHFR gene C677T and MS gene A2756G were analyzed by PCR-RFLP. Results The tHcy concentration in the combined hyperlipidemia patients was significantly higher than that in the control （15.95μmol/L vs 13.43 μmol/L, P〈0.05）. The prevalence of hyperhomocysteinemia （HHcy） in the combined hyperlipidemia group was significantly higher than that in the control （42.2% vs 23.0%, P=0.015）, with the odds ratio （OR） of 3.339 （95%CI： 1.260-8.849）. The hyperlipidemia patients with HHcy had a higher concentration of total cholesterol （TC） than that in the normal tHcy patients （5.67±0.95 mmol/L vs 5.47±0.92 retool/L, P=0.034）. There was no significant difference in genotype or allele frequencies of MTHFR C677T between the hyperlipidemic and control groups. The hyperlipidemia patients with MTHFR CT/TT genotype had a higher concentration of triglyceride （TG） than those with CC genotype （2.24±1.75 mmol/L vs 1.87±0.95 mmol/L, P〈0.05）. Individuals with CT/TT genotype had a higher concentration of tHcy than those with 677CC genotype both in the hyperlipidemia group （12.61±1.24μmol/L vs 11.20±1.37 μmol/L, P〈0.05） and in the control group （14.04±1.48 μmol/L vs 12.61±1.24 μmol/L, P〈0.05）. The percentage of MS 2756 GG/AG genotype in the combined hyperlipidemia group was significantly higher than that in the control （26.7% vs 13.0%, P=0.012）, with the OR of 3.     

山东籍汉族寻常型天疱疮与HLA-DRB1基因的相关性研究

目的 探讨HLA-DRB1、DQB1位点基因在山东籍汉族寻常型天疱疮易感性中的作用.方法 用序列特异性引物聚合酶链反应(PCR-SSP)方法,对61例寻常型天疱疮(pemphigus vulgaris,PV)患者和57名正常对照者进行了HLA-DRB1、DQB1等位基因的分型,并分析了DRB1、DQB1基因在两组中的分布.结果 与正常对照组比较,PV患者组DRB1 *14(*1401、*1404、*1405)基因频率明显增高(Pc分别＜0.05).结论 HLA-DRB1*14是山东籍汉族PV的易感基因.     

内蒙古地区蒙、汉族人HLA-DRB1基因多态性研究

目的 :了解内蒙古地区蒙、汉族人 HLA-DRB1的基因多态性。方法 :采用聚合酶链反应 -序列特异性引物 (PCR-SSP)技术对内蒙古地区 1 0 2例健康蒙古族标本和 1 0 8例健康汉族标本进行 HLA-DRB1等位基因型别分析。结果 :蒙古族中等位基因频率较高的分别是 :DRB1 * 1 2 0 x(genefrequency,GF=1 8.3 5 % ) ,* 0 40 x(GF=1 4.82 % ) ,* 1 5 0 x(GF=1 0 .84% )。汉族中 HLA-DRB1等位基因频率较高的分别是 :DRB1 * 0 90 1 (GF=1 6.67% ) ,* 1 5 0 x (GF=1 5 .0 3 % ) ,* 0 40 x (GF=1 1 .81 % )。其中 :DRB1 * 0 90 1、* 1 2 0 x位点的基因频率差异有显著性意义。结论 :内蒙古地区蒙古族和汉族具有不同的 HLA-DRB1等位基因分布频率。     

重庆地区汉族人群HLA-A、B、DRB1、DQB1等位基因多态性的研究

目的 研究重庆地区人群HLA-A、B、DRB1和DQB1位点等位基因的多态性特点.方法 采用序列特异性引物聚合酶链反应(PCR-SSP)技术对1 664名重庆籍健康人进行HLA-A、B、DRB1、DQB1等位基因的低分辨分型,并与国内其他地区汉族人群进行比较.结果 本次研究共检出HLA-A、B、DRB1、DQB1位点等位基因62种,其中A位点14种,B位点27种,DRB1位点13种,DQB1位点8种.A位点中A*11(34.62%)、A*02(28.81%)、A*24(14.93%)、A*30(5.53%)为重庆人群的优势基因.B位点中B*46(14.92%)＞B*40(12.96%)＞B*13(12.39%)＞B*51(7.26%).DRB1位点中,频率最高的为DRB1*09(15.65%),其次为DRB1*12(14.78%)、DRB1*14(14.49%)、DRB1*04(14.49%).DQB1位点中,频率最高的为DQB1*07(26.04%),其次为DQB1*05(19.94%)、DQB1*09(15.51%).与其他地区不同人群相比,HLA-A、B、DRB1、DQB1各位点等住基因的分布均有显著的差异.结论 重庆地区人群的HLA-A、B、DRB1、DQB1位点等住基因符合南方汉族人群分布特点,具有复杂的多态性,中国各地常见的基因均有分布,白血病及其他器官移植患者在重庆不难找到合适的供者.     

中国北方汉族人群人类白细胞抗原-DQA1, -DQB1基因多态性与支气管哮喘遗传易感性的关系

目的：探讨人类白细胞抗原（HLA0－DQA1－DQB1基因多态性与我国北方汉族支气管哮喘患者的相关及连锁关系。方法：采用引物序列特异性聚合酶链反应的方法检测了125例无血缘关系的长期居住在北京及其附近地区的汉族哮喘患者和12个哮喘家系成员183例及96名健康个体HLA－DQA1,－DQB1基因型;用放射变应原吸附法测定哮喘患者血清总IgE(TigE),常见过敏原特异性IgE(户尘螨d1,粉尘螨d2),并进行了哮喘患者支气管舒张试验,乙酰甲胆碱（Mch)气道激发试验。结果：HLA－DQA1＊0104基因和HLA－DAB1＊0201基因在哮喘组（分别咪0．204,0．284）明显高于健康对照组（分别为0．089,0．096,P＜0．01）,优势比（OR）分别为3．203（95％CI 1．699－6．037）和5．328（95％CI 2．883－9．849）,相反,HLA－DQA1＊0301基因和HLA－DQB1＊0301基因在哮喘组（0．148,0．20）,明显低于健康对照组（0．25,0．282,P＜0．01,P＜0．05）,HAL－DQA1＊0401基因与哮喘发病的独立危险因素分析显示P＜0．05,OR为5．0942（95％CI1．2252－21．1813）,HLA－DQA1＊0401基因和HLA－DQB1＊0201基因与特应质的相关系数分别为0．183,0．289,P＜0．01,而HLA1－DQA＊0301等位基因与特应质的相关系数为－0．168,P＜0．05,HLA－DQA1,HLA－DQB1基因与哮喘家系连锁分析LOD值＜1。结论：HLA－DQA1＊0104基因和HLA－DQB1＊0201基因与我国北方汉族哮喘者易感性相关,并且HLA－DQA1＊0104基因为哮喘发病的独立危险因素,而HLA－DQA1＊0301基因和HLA－DQB1＊0301基因则与哮喘的抗性相关。HLA－DQ基因对机体的特异性免疫应答有调节作用。     

海南地区女性HLA-DQB1和DRB5基因多态性与宫颈癌易感性的关系

目的 探讨海南地区汉族女性人群中人类白细胞抗原(HLA)-DQB1和HLA-DRB5等位基因多态性与宫颈癌易感性的相关性.方法 以海南地区41例经病理确诊的宫颈癌患者和38例因子宫肌瘤行全子宫切除术且病理证实无宫颈癌的患者为研究对象.采用PCR克隆测序技术对两组HLA-DQB1和DRB5等位基因进行分型.结果 共检测到12种HLA-DQB1等位基因和8种HLA-DRB5等位基因.其中HLA-DQB1*06011,HLA-DQB1* 030101和HLA-DQB1* 03032与HLA-DRB5* 01:01:01分别是海南地区汉族女性HLA-DQB1和DRB5的优势表达基因.无宫颈癌患者HLA-DRB5*0206等位基因频率(18.4％)显著高于宫颈癌患者(0)(P=0.013).结论 HLA-DRB5* 0206可能是海南地区女性宫颈癌的保护基因,可能降低女性患宫颈癌的风险.HLA-DRB5不同等位基因可能与宫颈癌的发生存在相关性.     

HLA-A、HLA-DRB1等位基因多态性与中国南方活动性肺结核患者遗传易感性的相关性

目的研究中国南方活动性肺结核患者的HLA-A、HLA-DRB1等位基因频率分布,并分析该地区HLA-A、HLA-DRB1高 分辨分型等位基因与肺结核遗传易感性的关联。方法采用聚合酶链式反应-直接测序基因分型（PCR-SBT）,检测中国南方人 群活动性肺结核患者（n=294）的HLA-A和HLA-DRB1 高分辨等位基因多态性,并与来自HLA 频率数据库［（http://www. allelefrequencies.net）］中国南方汉族人群（n=644）的HLA-A和HLA-DRB1等位基因多态性数据进行频率分布比较。结果活 动性肺结核（APTB）病例组中HLA-A*0101 和HLA-DRB1*1454 基因频率显著高于人群对照组（2.4% vs 0.6%,χ2=10.788,P= 0.001,Pc=0.016;7.5% vs 0%,χ2=69.850,P<0.0001）;而APTB病例组中HLA-DRB1*1202和HLA-DRB1*1401基因频率显著低 于人群对照组（10.4% vs 16.1%,χ2=9.845,P=0.002,Pc=0.044;0% vs 3.1%,χ2=18.520,P<0.0001）。结论在中国南方人群中,结 核病的易感性与HLA-A和HLA-DRB1高分辨等位基因有一定的相关性,结果提示HLA-A*0101和HLA-DRB1*1454等可能是 中国南方人群的肺结核易感基因,而HLA-DRB1*1202和HLA-DRB1*1401等可能是该地区人群结核病的保护基因。     

广东汉族人群HLA-ABDR基因频率分析

目的　检测广东汉族人群HLA -A ,B ,DRB1基因频率 ,分析该人群HLA等位基因多态性及其特点。方法　肾移植、骨髓移植供者 4 0 4例 ,抗凝血提取DNA ,半量全自动PCR -RSSO分型检测HLA -A ,B ,DRB1基因型。结果　在中分辨水平检出HLA -A等位基因 15个 ,HLA -B等位基因 31个 ,HLA -DRB1等位基因 13个。广东汉族人群HLA -A 11(0 .3342 ) ,A 0 2 (0 . 30 87) ,A 2 4 (0 . 2 2 16 ) ;HLA -B 6 0 (0 16 81) ,B 4 6 (0 . 16 81) ;HLA-DRB1 0 9(0. 175 5 ) , DRB1 15 (0 .14 90 ) ,DRB1 12 (0 . 1192 ) ,DRB1 14 (0 1192 ) ,DRB1 0 4 (0 .10 6 7)具有较高的基因频率分布 (>0. 10 )。Hardy -Weinberg平衡检验 :HLA -A(χ2 =6 0 .35 ,υ =5 4 ,P >0 1) ,B(χ2 =173. 6 7,υ =4 6 5 ,P >0 . 1) ,DRB1(χ2 =78. 4 6 ,υ =78,P >0 . 5 ) ,期望值和观察值吻合良好。结论　广东汉族群体HLA基因具有较为丰富的多态性 ,该人群HLA -A、B、DRB1等位基因处于遗传平衡状态 ,其基因频率分布具有地区性遗传特征。     

年轻宫颈癌患者人类白细胞抗原-DRB1与-DQB1基因多态性及与人乳头瘤病毒16感染的关系

目的 分析年轻妇女宫颈癌人类白细胞抗原(HLA)-DRB1与-DQBI等位基因的多态性分布及与人乳头瘤病毒(HPV)16亚型感染的关系.方法 选择温州医学院附属第一医院妇产科2005年1月至2009年8月诊治的166例官颈鳞状上皮癌患者,分为低龄组(年龄≤35岁,59例),高龄组(107例).以同期因子宫肌瘤收治患者共50例为正常对照组.采用聚合酶链反应检测官颈组织中HPV16感染情况,同时采用多聚酶链反应-序列特异性引物方法检测患者HLA-DRB1与-DRQ1等位基因,计算等位基因频率.结果 (1)HLA-DQB1*0301亚型基因频率在HPV16阳性的低龄宫颈癌患者中为29.6%,高龄组为12.9%,差异有统计学意义(P<0.05).HLA-DRB1*04、-DRB1*09亚型的基因频率在HPV16阴性的低龄宫颈癌患者中分别为14.1%与26.6%,高龄组为5.9%与10.5%,差异有统计学意义(P<0.05).HLA-DRB1*07亚型在HPV16阴性的低龄宫颈癌患者中未检出,而在高龄组检出14例(9.2%),差异有统计学意义(P<0.05).(2)低龄宫颈癌组HLA-DQB1*0501亚型的基因频率在HPV16阳性与阴性患者中分别为7.4%与6.3%,均明显低于高龄组的25.8%与20.4%,差异有统计学意义(P<0.05).结论 年轻官颈癌患者某些HLA-DRB1、-DQB1等位基因亚型分布不同于年长者,并且与其HPV16感染状态存在一定关系.     

HLA-DRB1等位基因与吉林地区汉族人群慢性乙型病毒性肝炎的关联性分析

目的：探讨HLA-DRB1基因多态性与吉林地区汉族人群慢性乙型肝炎病毒(HBV)感染的相关关系,为慢性乙型病毒性肝炎的治疗和预防提供新思路。方法：采用聚合酶链反应-序列特异性寡核苷酸探针技术(PCR-SSOP)对398例汉族慢性乙型病毒性肝炎患者及838名汉族健康献血者（对照组）进行HLA-DRB1等位基因分型比较。结果：慢性乙型肝炎组HLA-DRB1*03、09等位基因表达频率分别为6.28%和19.60%,明显高于健康对照组（3.58%和12.17%;P=0.031,OR=1.805;P=0.001,OR=1.759);慢性乙型肝炎组HLA-DRB1*04、10和13等位基因表达频率分别为6.28%、0.50%和3.27%,明显低于健康对照组（11.34%、2.39%和5.97%;P=0.005,OR=0.524;P=0.019,OR=0.207;P=0.044,OR=0.523）;而所检测HLA-DRB1座位的其他等位基因表达频率与健康对照组比较差异无显著性(P>0.05)。结论：HLA-DRB1*03、09可能是吉林地区汉族慢性乙型病毒性肝炎患者易感基因,HLA-DRB1*04、10、13可能是保护基因。