COMT基因单核苷酸多态性与汉族白癜风发病的相关性

目的：探讨COMT基因单核苷酸多态性与汉族寻常型白癜风发病的相关性。方法：测定377例汉族寻常型白癜风患者及388例正常对照的儿茶酚邻位甲基转移酶（COMT）基因第4外显子158密码子碱基多态性。抗凝血抽提DNA，用PCR—SSP法和PCR产物直接测序法鉴定基因型，对结果进行统计学分析处理。结果：COMT基因第4号外显子存在一个G〉A点突变，表现为GG纯合、AA纯合、GA杂合三种基因型，使其编码的第158氨基酸由缬氨酸（Val）变成蛋氨酸（Met）。病例组A频率明显高于对照组，差异有统计学意义（P〈0．05）。结论：COMT-158位点的多态性与汉族寻常型白癜风具有明确相关性。     

Rh phenotype prediction by DNA typing and its application to practice

The complexity of the RHD and RHCE genes, which is the greatest of all blood group systems, confounds analysis at the molecular level. RH DNA typing was introduced in 1993 and has been applied to prenatal testing. PCR-SSP analysis covering multiple polymorphisms was recently introduced for the screening and initial characterization of partial D. Our objective is to summarize the accrued knowledge relevant to the approaches to Rh phenotype prediction by DNA typing, their possible applications beyond research laboratories and their limitations. The procedures, results and problems encountered are highly detailed. It is recommended that DNA typing comprises an analysis of more than one polymorphism. We discuss future directions and propose a piecemeal approach to improve reliability and cost-efficiency of blood group genotyping that may eventually replace the prevalent serology-based techniques even for many routine tasks. Transfusion medicine is in the unique position of being able to utilize the most extensive phenotype databases available to check and develop genotyping strategies.     

基因分型技术首次应用于类孟买型家系ABO基因的研究

目的 探计将基因分型技术用于解决临床输注中血型血清学难题。方法 报告首次在国内用基因分型技术用于一个类孟买型家系5口人ABO基因多态性的研究。在吸收放散试验、唾液血型物质凝集抑制等血清学试验基础上，采用快速盐析法提取外周血中的DNA，用PCR—SSP法扩增ABO血型等位基因。结果 一家5人中，兄弟3人均为类孟买型，ABO基因分型分别为A102B、A102B、Al20O1，而其父母血型基因与血清学血型相符合。结论 ABO PCR—SSP基因分型是一种方便、快速、可靠的技术，与血型血清学相比有着显优势。     

HLA-Cw*1602: a new susceptibility marker of Behçet's disease in southern Spain

Abstract: Genotyping of the HLA-C locus by PCR-SSP in Behçet's disease patients from southern Spain reveals a statistically significant association with Cw*1602 (OR 20.15, corrected ρ<0.05). This is an uncommon allele absent from the healthy control group, which seems to confer higher relative risk than B51 in this study (OR 1.85). Stratified frequencies do not show statistically significant differences but suggest that the Cw*1602-B51 haplo-type could be the main HLA marker of Behçet's disease in the analyzed population.     

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。     

CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease

Mycobacterium malmoense is an opportunistic mycobacterium that occasionally causes disease in non-immunosuppressed individuals. As only a few individuals exposed to these organisms actually develop clinical disease, it is possible there is a genetic component to susceptibility. CD1 molecules are capable of presenting antigens from more virulent mycobacteria to T cells; therefore, we were interested in discovering whether recently described polymorphisms in CD1 molecules modulated susceptibility to M. malmoense pulmonary disease. The CD1 system comprises five genes (CD1A, -B, -C, -D, and -E) located on chromosome 1 (1q22-23). CD1 molecules are structurally and functionally related to major histocompatibility complex (MHC) class I molecules and are expressed on dedicated antigen-presenting cells. The primary function of CD1 molecules is to present lipid and glycolipid antigens to T cells. We have developed an allele-specific polymerase chain reaction-sequence-specific primer (PCR-SSP) method of CD1 genotyping. Using this method, we compared the allele and haplotype frequencies of CD1 in 49 HIV-negative patients with M. malmoense pulmonary disease with those in 342 normal controls. The CD1A and CD1E alleles were nominally identified as CD1A*01, CD1A*02, CD1E*01 and CD1E*02, and the control gene frequencies were found to be 5%, 95%, 67% and 33%, respectively. No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.     

New HLA-A*11 allele,A*1112, identified by sequence-based typing

In this report, we describe the identification of HLA-A*1112, a novel HLA-A*11 allele found in two Italian families. The new allele was detected during routine HLA typing by a polymerase chain reaction sequence-specific primer and was confirmed by high-resolution sequencing-based typing. The nucleotide sequences of HLA-A*1112 exons 2 and 3 are identical to HLA-A*11011 except for a single nucleotide substitution in codon 90 (GAC-->GCC).     

HPA polymorphism in sub-Saharan African populations: Beninese, Cameroonians, Congolese, and Pygmies

The frequency of human platelet antigen-1 (HPA-1) to HPA-11w (excluding HPA-8w) and HPA-15 systems was studied in four sub-Saharan populations: Beninese, Congolese (Democratic Republic of Congo Kinshasa), Cameroonians, and Aka pygmies (Central African Republic). No report of HPA prevalence has previously been published concerning these populations which are characterized by the highest HPA-2b gene frequencies of any reported to date (Aka 0.393, Benin 0.292, Cameroon 0.237, and Congo 0.224) and at lesser degree HPA-5b (Aka 0.405, Congo 0.268, Cameroon 0.254, and Benin 0.182). This study is of great importance (i) particularly in the context of the diversity caused by the population migrations, we may observe today in our hospitals (ii) to confirm that the Pygmy population with distinctive frequencies (absence of the HPA-1b, HPA-2b, and HPA-5b highest frequencies) is an isolated population.     

Identification of a new HLA-B*15 allele,HLA-B*1569

We have identified a new HLA-B*15 allele (B*1569) by polymerase chain reaction (PCR) using sequence-specific primers (SSP) and sequence-based typing (SBT). This novel allele was found in a 67-year-old white Caucasian male and differs from HLA-B*1503 at 3 positions. The nucleotide substitutions at positions 544, 559 and 560 result in amino acid changes at codon 158 from GCC (alanine) to ACC (threonine), and at codon 163 from CTG (leucine) to ACG (threonine).     

Identification of HLA-A*0224: implications for PCR-SSP HLA typing

We describe a novel HLA-A*02 allele, A*0224, that was identified after a comparison of DNA and serological typing revealed a discrepancy in the HLA-A types: HLA-A2 was defined by serology but was not detected by the polymerase chain reaction using sequence-specific primers (PCR-SSP). DNA sequencing indicated the presence of a variant HLA-A*02 allele that differed from A*0201 by a single base (C/A) at position 453. This base substitution corresponded to the annealing site of a primer common to the two A*02-amplifying PCR-SSP mixtures used in the method. This provides an explanation for the results and highlights a limitation of PCR-SSP methods even where two PCR mixtures are used to detect alleles. Serological titration studies suggested that A*0201, A*0205 and A*0224 are unlikely to be differentiated during routine serological typing.