MICA1078: A novel allele identified in a Moroccan individual affected by celiac disease

A novel MICA allele, MICA¹078, has been identified during HLA/MICA high resolution typing of Moroccan patients with celiac disease. MICA¹078 shows an uncommon variation at a highly conserved nucleotide position (nt 493, G → A), resulting in one amino acid change at codon 142 (V → I) of MICA gene (compared to MICA¹002:01), located in the α2-domain, in which V142 is the common residue.     

汉族人群组织激肽释放酶基因调控序列多态性分析

目的　分析组织激肽释放酶基因 5’端启动子区域多态性在四川地区汉族人群中的分布。方法　应同PCR技术结合等位基因特异寡核苷酸片段分析的方法 (ASO)对 13 2例四川地区健康汉族人的组织激肽释放酶基因用十种探针进行检测 ,分析等位基因频率的分布。结果　组织激肽释放酶基因的A、B、C、D、E、H、K、P的频率分别为 2 2 .7%、9.8%、9.8%、3 .0 %、9.1%、2 3 .1%、16.3 %、6.1%。结论　在我国四川地区的健康汉族人群中 ,该位点确实存在多态性。     

等位基因特异PCR技术检测结核分支杆菌rpoB基因突变研究

目的 建立并评价等位特异多聚酶链反应检测结核分支杆菌耐利福平基因rpoB突变的方法。方法 设计与rpoB基因突变后的碱基配对的引物用于扩增突变基因，建立AS－PCR检测rpoB基因突变的方法，并对58株结核菌进行了检测。结果 AS－PCR检测结核菌耐利福平相关基因rpoB的敏感性为77.3%，特异性达91.7%。AS－PCR检测rpoB基因，有1628A→T、1657C→T，G和1673C→T突变分别占耐利福平结核菌株的18.2%，22.7%和36.4%。检测rpoB突变与MIC测定RFP耐药率和PCR－SSCP检测的总符合率分别为86.2%和74.1%。检测试验可在3－4h内完成。结论 AS－PCR方法是检测结核菌耐利福平基因突变的敏感和快速方法，可在临床实验室使用并为临床医师提供治疗依据。     

2型糖尿病患者载脂蛋白E基因多态性的研究

目的：探讨中国人2型糖尿病患者载脂蛋白E（apoE)基因多态性及其与血脂和载脂蛋白水平的关系。方法：采用聚合酶链反应－限制性酶切片段长度多态性法，分别对74例2型糖尿病患者及191例血脂、血糖正常且无糖尿病史者的apoE基因型、空腹血脂及载脂蛋白AI、AⅡ、B100、CⅡ、CⅢ及E进行全面分析。结果：2型糖尿病患者的血清甘油三酯（TG）、总胆固醇（TC），低密度脂蛋白胆固醇（LDLC），非高密度脂蛋白胆固醇（nHDLC),载脂蛋白B100、CⅡ、CⅢ、E水平及TG／HDLC比值较对照组显著升高（P＜0．01）；血清高密度脂蛋白胆固醇（HDLC），apoE/apoCⅢ比值显著降低（P＜0．05）。2型糖尿病组与对照组apoE基因频率分布无显著性差异（P＞0．05）。携带ε2等位基因组血清TG／HDLC比值较E3／3基因型显著降低；而携带ε4等位基因组血清apoAⅡ水平较E3／3基因型及携带ε2等位基因组显著升高（P＜0．001）。结论：2型糖尿病患者apoE基因多态性与血TG／HDLC及apoAⅡ有一定关联。     

Amplified fragment length polymorphism analysis of the VNTR locus D1S80 in central Spain

Summary The polymorphism of the D1S80 locus has been analyzed in a population sample of 203 unrelated individuals living in Madrid (central Spain) by PCR and subsequent semi-dry discontinuous polyacrylamide gel electrophoresis (Tris-chloride/Tris-glycine buffer system) followed by silver staining, The electrophoretic system described in this study offers high resolution in the separation of the different D1S80 alleles allowing the detection of microvariability around the allele T22 in the spanish population. Twenty different alleles containing 17–40 repeats of the basic 16bp unit were distinguished. The alleles T18 and T24 were found to be relatively common in Spain, as in other populations:, with frequencies of 0.224 and 0.372, respectively. No evidence of significant deviations from Hardy-Weinberg equilibrium was found in these preliminary population data.     

中国汉族人群APOE等位基因频率的初步研究

载脂蛋白Ｅ（ａｐｏｌｉｐｏｐｒｏｔｅｉｎＥ，ＡＰＯＥ）基因是一个多功能基因，除调节脂类及脂蛋白代谢之外，近年来还发现它与Ａｌｚｈｅｉｍｅｒ病及Ⅲ型高血脂症等病之间有密切关系。为对上述疾病进行病因学研究，作者采用一步法ＰＣＲ技术对４３８名无亲缘关系的中国汉族健康受试者的ＡＰＯＥ基因进行分型，并计算其基因频率分布，结果表明，中国治疗人群ＡＰＯＥ３种等位基因的频率分别为：Ｅ２＝０．０４００，Ｅ３＝０．８     

中国湖北地区汉族人群L-选择素基因P213S多态性研究

目的:了解中国湖北地区汉族人群L-选择素基因第六外显子P213S多态性分布,并与其它地区的分布进行比较。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测206名健康者L-选择素基因P213S多态性基因型和等位基因频率分布。结果:L-选择素各基因型频率分别为PP型(45.63%)、PS型(49.03%)和SS型(5.34%)。P、S等位基因频率分别为70.15%和29.85%,这种基因多态性分布无性别差异(P>0.05)。湖北地区汉族人群L-选择素基因型和等位基因频率分布与英国及日本人有显著性差异(P<0.05)。结论:湖北地区汉族人群中存在L-选择素基因多态性,与其它地区分布比较有明显的差异。     

样本量对等位基因检出数量的影响

以中国37个不同民族9个常染色体STR基因座的群体遗传研究数据资料为例，探讨群体遗传学研究中常染色体STR基因座等位基因检出数量与样本量之间的关系，即样本量对等住基因检出数量的影响。结果显示在一定范围之内，样本量的大小与所观测到的不同基因座等位基因检出数量之间存在正相关关系。当超过一定范围时，样本量的继续增加不再明显影响等位基因的检出数量。杂合度较低的位点随样本量的变化波动较大，杂合度较高的位点随样本量的变化波动较小。     

Ethnic variation in the HER-2 codon 655 genetic polymorphism previously associated with breast cancer

HER-2, a protooncogene located on chromosome 17q21, encodes a transmembrane glycoprotein (p185) with tyrosine kinase activity. Alterations of the HER-2 gene have been implicated in the carcinogenesis and prognosis of breast cancer and other solid tumors. It is also a cancer-therapeutic target for antibody-based therapy against the HER-2 protein. A single-nucleotide polymorphism (SNP) at codon 655, resulting in a G-to-A transition (Ile655Val) in the transmembrane domain-coding region of this gene has been associated with an increased risk of breast cancer, particularly among younger women. To understand the importance of this finding throughout the world, we evaluated this polymorphism in Ghanaian, Kenyan, Sudanese, Caucasian, African–American, Saudi, and Filipino subjects using a polymerase chain reaction-restriction fragment length polymorphism assay. The frequency of the Val allele, which is associated with increased breast cancer risk, was highly variable between populations (0%–24%). Continental African populations had a lower frequency of the Val allele than did Saudi, Chinese, Filipino, Caucasian, and African–American subjects. The data suggest that this SNP has variable frequency in different ethnic groups. The findings in this study correspond with the lower incidence and lower risk of breast cancer in African women compared with Caucasian and African–American women. Received: December 13, 2001 / Accepted: January 16, 2002     

FGA等15个短串联重复序列在融水县苗族群体中的遗传学分析

目的 了解广西融水县苗族群体中15个短串联重复序列(STR):TPOX、TH01、CSFIPO、D19S433、vWA、D18S51、D5S818、FGA、D8S1179、D21S11、D7S820、D3S1358、D13s317、D16S539、D2S1338遗传多态的分布情况.方法 用枸橼酸钠抗凝法采集融水县苗族的血样,酚.氯仿抽提法提取DNA,用AmpFISTRR Identifiler TM PCR Amplification kit荧光标记复合扩增技术和ABI 3100型遗传分析仪对DNA进行扩增检测.结果 15个STR分别检测出5～20种等位基因,11～62种基因型,基因型的分布符合Hardy-Weinberg平衡定律,等位基因频率和基因型频率分布在0.002 4～0.4663和0.004 8～0.274 0之间;平均杂合度0.781 1,累积个人识别力1.000 000 000 00,累积非父排除率0.999 999 998,多态信息总量0.999 999 999 4.结论 广西融水苗族群体的15个短串联重复序列基因座具有高度多态性和遗传稳定性,实用价值高,可作为广西苗族群体的民族遗传学研究和法医学鉴定的基础数据.