HLA-A、B等位基因与中国北方地区汉族人皮肌炎/多发性肌炎的相关性研究

皮肌炎／多发性肌炎（Dermatomyositis DM／Polymy－ositis PM）均属特发性炎症性肌病，如肌炎同时伴有多种形态皮疹者称为皮肌炎。其病因及发病机理尚不清楚，可能与自身免疫异常、病毒感染及遗传有关。国外关于HIA-A、B在抗原与DM／PM相关性的报道结论不一，国内尚未见相关研究的报道。既往对HIA-A、B抗原主要以血清学方法进行检测，我们在     

HLA-DQB1等位基因与皮肌炎/多发性肌炎相关性研究

目的　探讨 HL A- DQB1等位基因与皮肌炎 /多发性肌炎 (dermatomyositis/polymyositis,DM/PM)的相关性。方法　采用聚合酶链反应 -序列特异性引物技术 ,检测了 DM/PM患者的 HL A- DQB1等位基因。结果　与 16 0名正常对照比较 ,在 5 2例 DM/PM患者中 HL A- DQB1* 0 4 0 1等位基因频率明显增高 ,且差异有显著性 (RR=3.5 6 ,P=1.79× 10 - 3,Pc<0 .0 5 ) ;HL A- DQB1* 0 30 3的检出频率在 DM/PM患者组中有降低倾向 ,但两组差异无显著性。结论　DM/PM与 HL A- DQB1* 0 4 0 1基因有显著性相关 ,为揭示 DM/PM的发病中免疫遗传学机理所起的作用提供了重要线索和依据。     

慢性肾功能衰竭患者与HLA-DRB1等位基因相关性分析

目的：探讨东北地区汉族人ＨＬＡ－ＤＲＢ１等位基因与慢性肾功能衰竭的遗传关联。方法：应用聚合酶链反应－序列特异性引物（ＰＣＲ－ＳＳＰ）分型技术,对４４例慢性肾功能衰竭患者以及３３６例正常人ＨＬＡ－ＤＲＢ１等位基因进行分析,结果：慢性肾功能衰竭患者ＤＲＢ１＾＊０７０１的基因频率较正常对照组明显增高,且有非常显著性差异（Ｐ〈０．００１,ＲＲ＝４．７６,Ｐｃ〈０．０１）;患者组的ＤＲＢ１＾＊１２０１、１２     

中国北方汉族寻常型天疱疮与HLA-DRB1等位基因的相关性研究

国外学者在不同人种的寻常型天疱疮 (pemphigusvulgaris,PV)患者中进行研究 ,相继发现了一些与 PV相关的HL A- 抗原 [1 - 4 ] ,国内尚未见到有关研究的报道。我们应用聚合酶链反应 -序列特异性引物 (polymerase chain reaction-sequence specific primers,PCR- SSP)技术对东北汉族 PV患者HL A- 类抗原等位基因进行调查 ,并同健康人群比较 ,以期找出东北地区汉族 PV的 HL A易感基因。1　材料和方法1.1　对象　患者组 :随机选择中国医科大学附属第一医院皮肤科住院的 PV患者 2 7例 ,彼此无血缘关系。其中男 11例、女16例 ,年龄 19…     

洛阳地区汉族HLA-DRB1等位基因的PCR-SSO分型

洛阳地区汉族ＨＬＡ－ＤＲＢ１等位基因的ＰＣＲ－ＳＳＯ分型张明军陈仁馨赵红人类白细胞抗原（ＨＬＡ）系统具有高度多态性，不同人种、不同民族和地区人群ＨＬＡ－ＤＲＢ１等位基因频率分布会有差异。对此差异的研究可为ＨＬＡ与疾病相关性、移植免疫及人类学研究提供有...     

HLA-DRB1等位基因与红皮病的易感性研究

红皮病是一种严重的皮肤疾病 ,其病因复杂 ,死亡率较高。但是同样疾病在相同条件下的发病率却不同。我们用聚合酶链反应 序列特异性引物技术(ＰＣＲ ＳＳＰ)方法分析红皮病患者ＨＬＡ ＤＲＢ1等位基因频率 ,为治疗及预防该疾病寻找科学依据。选定确诊为红皮病患者 31例 ,其中银屑病型红皮病 14例 ,非银屑病型红皮病 17例。对照组为无血缘关系的健康献血员 336例。试剂 :ＨＬＡ ＤＲＢ1等位基因序列特异性引物 ,共 2 3对 ,为德国ＥＳ ＳＥＮ大学合成 ,针对ＤＲＢ1第二外显子多态性设计 ,分型结果与血清学方法所测的ＨＬＡ ＤＲＢ1表型有对应…     

HLA-Ⅱ类基因单倍型与中国北方汉族人皮肌炎/多发性肌炎的相关性研究

目的：探讨HLA-DRB1、DQB1基因单倍型与中国北方地区汉族人皮肌炎，多发性肌炎的相关性。方法：采用聚合酶链反应，序列特异性引物(PCR-SSP)技术，检测中国北方汉族皮肌炎，多发性肌炎患者的HLA-DRB1、DQB1等位基因。结果：与100例正常对照组比较，在52例皮肌炎，多发性肌炎患者中HLA-DRB1^#040x-DQB1^#0301、DRB1^#040x-DQB1^#0401单倍型频率明显增高，经统计学检验两组差别有显著意义，P值分别为0.0307、0.0033。HLA-DRB1^#150x-DQB1^#0602单倍型频率明显降低，P值为0.0201。在38例皮肌炎组中，HLA-DRB1^#040x-DQB1^#0301、DRB1^#040x-DQB1^#0401、DRB1^#070x-DQB1^#0201、DRB1^#120x-DQB1^#0303单倍型频率明显增高，P值分别为0.0292、0.0015、0.0450、0.0192，两组差别有统计学意义。在14例多发性肌炎患者中HLA-DRB1^#070x-DQB1^#0301单倍型频率明显增高，P值为0.0141。结论：特异单倍型可能是决定皮肌炎，多发性肌炎发病及皮肌炎、多发性肌炎异质性的重要因素。     

多发性肌炎、皮肌炎临床与实验室检查分析

分析了29例多发性肌炎(PM)和皮肌炎(DM)的临床及实验室检查。结果显示临床症状以肌无力,肌痛,皮诊最常见,还有部分病人以发热为特征占46.5％。临床应引起重视。血清酶、肌电图,肌活检三项检查对本病有一定特异性,但临床确诊主要依赖于临床与实验室检查的综合分析结果。     

河北省唐山地区汉族人HLA-DRB1*、DQB1*基因多态性分析

HL A是目前已知最复杂、最具多态性的遗传系统 ,在人类学、法医学、疾病关联、器官移植等领域有重要意义 ,具有显著的群体差异、种族差异和地区差异。我们应用聚合酶链反应 -序列特异性引物 (polymerase chain reaction- sequence specificprimer,PCR- SSP)方法随机对祖居唐山地区的 10 0名汉族健康人进行了 HL A- DRB1*、DQB1*等位基因分型 ,以了解唐山地区汉族人 HL A- DRB1*、DQB1*等位基因频率分布情况 ,为进一步与其它地方民族群体的研究结果做比较提供了有意义的资料。1　对象与方法1.1　对象　祖居唐山地区汉族无血缘关系…     

多发性肌炎/皮肌炎合并淋巴瘤的临床特点分析

目的 探讨多发性肌炎(PM)/皮肌炎(DM)合并淋巴瘤的临床特点。方法 回顾性分析2000至2015年北京协和医院收治的PM/DM合并淋巴瘤患者的资料,分析临床特点和预后,并以“多发性肌炎、皮肌炎、淋巴瘤”为关键词在Pub Med检索并文献复习。结果 PM/DM合并胸腺瘤住院患者共10例,女性6例,男性4例。PM/DM的平均确诊年龄44.5岁,淋巴瘤的平均确诊年龄44.9岁。PM/DM进展至胸腺瘤的平均病程为4.7月。10例患者中6例为皮肌炎,4例为多发性肌炎,3例有肺间质病变,2例有关节炎,抗Jo-1抗体均阴性。合并淋巴瘤时前3位表现:淋巴结肿大(9例)、发热(8例)和脾大(5例)。淋巴瘤的病理确诊前3位组织来源:淋巴结(4例)、皮肤活检(2例)和局部肿物(2例)。10例患者均为非霍奇金淋巴瘤,其中T细胞来源4例,B细胞来源2例,4例分型不清。临床分期为:IIIB期4例,IVB期6例。10例患者在确诊后均使用免疫抑制治疗,确诊淋巴瘤后随访,5例死亡,4例化疗,1例失访。结论 PM/DM可以合并淋巴瘤,病程较短,病死率高,值得引起临床医师重视。     

中国北方地区汉族人皮肌炎/多发性肌炎与HLA-Ⅰ类基因单倍型的相关性研究

目的 :探讨HLA A、B基因单倍型与中国北方地区汉族人皮肌炎 多发性肌炎的相关性。方法 :采用聚合酶链反应 序列特异性引物 (PCR SSP)技术 ,检测中国北方汉族皮肌炎 多发性肌炎患者的HLA A、B等位基因。结果 :与 2 72例正常对照组比较 ,在 5 2例皮肌炎 多发性肌炎患者中HLA A2B5 1、A2B5 6、A32B1 3、A32B6 0单倍型频率明显增高 ,经统计学检验两组差别有显著意义 ,P值分别为 0 0 380、0 0 30 9、0 0 30 9和 0 0 2 5 3。在 38例皮肌炎组中 ,HLA A2B1 8、A2B5 1、A2B5 6、A31B1 3、A32B1 3和A2 6B1 3单倍型频率明显增高 ,且P值均小于 0 0 5 (0 0 4 0 6、0 0 336、0 0 1 4 4、0 0 4 0 6、0 0 1 4 1、0 0 4 0 6 ) ,两组差别有统计学意义。在 1 4例多发性肌炎患者中HLA A2 4B76、A32B6 0单倍型频率明显增高 ,P值均为 0 0 4 90。结论 :特异单倍型可能是决定皮肌炎 多发性肌炎发病及皮肌炎、多发性肌炎异质性的重要因素     

HLA-DRB1等位基因与吉林地区汉族白癜风和寻常型银屑病相关性研究

目的：探讨HLA-DRB1等位基因与吉林地区汉族白癜风和银屑病的相关性。方法：采用聚合酶链反应-序列特异性引物（PCR-SSP）分型技术,对82例汉族白癜风患者和80例寻常型银屑病患者HLA-DRB1等位基因进行检测,与86名汉族健康人群进行对照。结果：①白癜风患者组HLA-DRB1＊07和HLA-DRB1＊12等位基因频率比对照组明显增高（P〈0.05）;②银屑病患者组HLA-DRB1＊07等位基因频率高于对照组,HLA-DRB1＊01等位基因频率低于对照组（P〈0.05）。结论：①HLA-DRB1＊07和HLA-DRB1＊12等位基因可能是吉林地区汉族白癜风的易感基因或与易感基因相连锁;②HLA-DRB1＊07等位基因可能是寻常型银屑病的易感基因,HLA-DRB1＊01可能为寻常型银屑病的保护性基因。     

HLA-DRB1 alleles of susceptibility and protection in Iranians with autoimmune hepatitis

Autoimmune hepatitis (AIH) is an uncommon autoimmune liver disease of unknown etiology. The aim of this study was to determine the frequency of HLA-DRB1 alleles in Iranian patients with AIH and investigate the association between HLA alleles and the different types of the disease. Fifty-four AIH patients and 100 age- and sex-matched healthy controls were subjected to low resolution HLA-DRB typing performed by polymerase chain reaction-sequence-specific primers (PCR-SSP) technique. The results revealed higher frequencies of HLA-DRB1¹03, and DRB1¹13 alleles in patients with AIH compared to controls. However, DRB1¹11 was less frequent in AIH patients. In type I AIH patients HLA-DRB1¹03, HLA-DRB1¹04, HLA-DRB1¹08, and HLA-DRB1¹13 were the most frequent alleles. While in type II, the most frequent alleles were HLA-DRB1¹07 and HLA-DRB1¹13. The seronegative patients showed more frequency of HLA-DRB1¹03 and HLA-DRB3. In contrary, the frequency of HLA-DRB1¹11, HLA-DRB1¹15 and HLA-DRB5 in type 1 was less than healthy individuals. These findings indicate the role of HLA-DRB haplotypes in AIH susceptibility and protection, in the Iranian population.     

New DRB1* alleles (HLA-DRB1*1135, DRB1*1430 and DRB1*1433) and a confirmatory sequence (DRB1*1133)

Three new DRB1 alleles (DRB1*1135, DRB1*1430 and DRB1*1433) and a confirmatory sequence (DRB1*1133) have been identified after following up unusual or novel polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) patterns during routine typing of the DRB1*03,*08,*11,*12,*13 and *14 allele groups. Of the new alleles found and described in this paper, two alleles were initially detected by the PCR-RFLP method which produced unexpected restriction polymorphism (DRB1*1133 and DRB1*1135) while the remaining two were found after following up rare allele typings from this technique (DRB1*1430 and DRB1*1433).     

No association between HLA-DRB1 alleles and susceptibility to advanced stage endometriosis in a Korean population

BACKGROUND: The aetiological factors of endometriosis still remain poorly understood. While there is growing evidence that genetic and immunological factors play important roles in the pathogenesis of the disease, HLA-DRB1 alleles have been reported to be associated with the risk of endometriosis in Japanese populations. This study was performed to determine whether susceptibility to advanced endometriosis is also associated with HLA-DRB1 alleles in a Korean population, which is the closest ethnic group to Japanese. METHODS: We recruited 100 Korean patients with advanced endometriosis confirmed by surgical and histolological examinations. HLA-DRB1 genotyping was carried out in two steps. Low to intermediate resolution typing was performed by PCR sequence-specific oligonucleotide hybridization method, followed by high resolution typing utilizing group-specific amplification and PCR-single strand conformation polymorphism method. Distribution of HLA-DRB1 alleles was compared with that of 800 unrelated ethnically matched individuals as well as 108 healthy female subjects. RESULTS: Genotyping revealed that the distribution of HLA-DRB1 alleles in patients with advanced endometriosis was not different from that in the two control groups. CONCLUSIONS: The findings of the present study suggest that susceptibility of advanced endometriosis is not associated with HLA-DRB1 alleles in a Korean population, which is apparently not the case in the Japanese population.     

Therapy of polymyositis and dermatomyositis

Because polymyositis and dermatomyositis (PM/DM) are uncommon conditions, few randomized placebo controlled studies have been performed in these patients. The first line of therapy consists in high-dose oral prednisone, prescribed at 1 mg/kg/day, then progressively tapered based on patients' clinical response. In patients who do not improve with corticosteroids alone, methotrexate is added, the therapeutic effect of which being observed within 8 weeks. If PM/DM patients are refractory to corticosteroids and methotrexate, intravenous immunoglobulins can be added. In patients who fail to respond to this therapeutic strategy, it is crucial to make sure that the correct diagnosis has been made and we strongly recommend to perform a new muscle biopsy in order to exclude other myopathies. If the diagnosis of PM/DM is confirmed, a number of therapeutic agents may be proposed, including mycophenolate mofetil and rituximab. Importantly, TNF-α antagonists should not be considered in PM/DM patients, as these agents have been shown to favor exacerbation of interstitial lung disease and myositis and increase the risk of severe pyogenic and opportunistic infections in PM/DM patients.     

Identification of two new HLA-DRB1 alleles: HLA-DRB1*1350 and DRB1*140502

Two new HLA-DRB1 alleles have been found by using high-resolution sequence-based typing. The two sequences have been officially named DRB1*1350 (HWS10001327-AY048687) and DRB1*140502 (HWS10001790-AY129430). DRB1*1350 differs from DRB1*110101 by two amino acids at positions 37 (Y-->N) and 58 (A-->E). This allele may arise from gene conversion between DRB1*110101 and DRB1*130201 or DRB1*030101, which are commonly found in Taiwan populations. The other allele, DRB1*140502, obtained from a patient with rheumatoid arthritis, differs from DRB1*140501 at codon 58 (GCC-->GCT). However, it causes no change in amino acid sequence and would therefore not have direct clinical implications.     

HLA-DRB1等位基因与中国北方地区汉族人2型糖尿病大血管病变的相关性研究

目的 :探讨HLA DRB1基因多态性与 2型糖尿病 (type 2diabetesmellitus,T2DM)大血管病变的关系。方法 :采用序列特异性引物聚合酶链反应技术 (polymerasechainreactionwithsequence specificprimers ,PCR SSP)检测了中国北方地区汉族人88例T2DM患者 ( 5 2例无并发症 ,36例合并大血管病变 )HLA DRB1等位基因多态性。结果 :T2DM患者至少存在 11种HLA DRB1等位基因 ,T2DM伴大血管并发症组HLA DRB1 0 3、HLA DRB1 0 90 12基因频率明显高于无并发症组 (P <0 .0 5 )。结论 :HLA DRB1基因中DRB1 0 3、DRB1 0 90 12等位基因或其连锁不平衡基因可增高T2DM发生大血管并发症的危险性     

多发性肌炎和皮肌炎33例肌电图与血清肌酶在病程中的演变

目的：探讨多发性肌炎和皮肌炎起病不同时间的肌电图与肌酶的演变规律。方法：对33例多发性肌炎和皮肌炎病人做了53例次肌电图与肌酶检测，根据起病肜式、病程分组分析检测结果。结果：多发性肌炎和皮肌炎患者的肌酸磷酸肌酶升高程度在急、亚急性起病者与慢性起病者之间的差异具有统计学意义(P(0．05)；肌电图在急性、亚急性起病者多表现为肌源性损害与神经源性损害并存．而在慢性起病者则多表现为单纯肌源性损害。结论：肌电图和肌酶能够较客观地反映肌肉炎性病变的急剧程度，埘疾病的临床转归具有一定的预示意义。