Genetic polymorphism of T6235C mutation in 3' non-coding region of CYP1A1 and GSTM1 genes and lung cancer susceptibility in the Mongolian population

Objective To estimate the relative risk for lung cancer associated with genetic polymorphism of T6235C mutation in 3' non-coding region (Msp Ⅰ) of cytochrome P450 1A1 (CYP1A1) and glntathione S-transferase M1 (GSTM1) in the Mongolian population in Inner Mongolian Region of China. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and multiplex PCR methods were used to analyze blood samples obtained from 263 case subjects and 263 control subjects to determine their genotypes for CYP1A1 and GSTM1.Control subjects were matched with case subjects by ethnic background, age and gender. Results The frequencies of the variant CYP1A1 genotypes (CYP1A1C) and GSTM1-null in lung cancer groups were higher than those in control groups (38.4% vs. 28. 5% and 57.8% vs. 48.0%). The individuals who corried with CYP1A1C genotype had a significantly higher risk of lung cancer (OR=1.56, 95% CI=1.08 to 2.25, P=0.016) than those who carried with non-variation CYP1A1 genotype. The ones who carried with GSTM1-null genotype also had a significantly higher risk of lung cancer (OR=1.49, 95% CI=1.06 to 2.10, P=0.023) than these who carried with GSTM1-present genotype.When combination of polymorphisms of CYP1A1 and GSTM1 genotypes was analyzed, the risk of lung cancer for combination of CYP1A1C and GSTM1-null genotypes was increased significantly (OR=2.084, 95e CI=1.27 to 3.42, P=0.003). Susceptibility to lung cancer was related to smoking (OR=2.10, 95% CI=1.48 to 2.98, P=0.000). Considering smoking status, the risk of lung cancer for combination of smoking and CYP1A1C genotype was remarkably increased (OR=2.76, 950/0 CI=1.74 to 4. 37, P=0.000). It was the same case with combination of smoking and GSTM1-null genotype (OR=4. 38, 95% CI=2.35 to 8.15, P=0.000). Conclusion The polymorphisms of CYP1A1C genotype and GSTM1-null are the risk factors of lung cancer in the Mongolian population in Inner Mongolia Region of China. Smoking is also related to susceptibility to lung cancer. There may be a synergetic interaction between CYP1A1C and GSTM1-null in the elevated susceptibility of lung cancer. Smoking may have a synergetic interaction with CYP1A1C and GSTM1-null in the elevated susceptibility of lung cancer.     

新疆维吾尔族原发性高血压患者血管紧张素转换酶基因的I/D多态性

目的　探讨血管紧张素转换酶 (ACE)基因插入 /缺失 (I/D)多态性与维吾尔族人群原发性高血压的易感相关性。方法　应用聚合酶链反应 (PCR)鉴定 78例原发性高血压患者与 72例正常血压对照者ACE基因I/D多态性。结果　维吾尔族人群原发性高血压患者ACE基因缺失纯合基因型 (DD)和缺失 (D)等位基因频率均明显高于正常血压对照者 (30 %vs 14 % ,P <0 .0 5 ;5 3%vs 37.5 % ,P <0 .0 1)。结论　ACE基因D等位基因可能是维吾尔族人群原发性高血压遗传易感性的基因标志     

青少年牙周炎与补体第三组份、备解素因子B遗传多态性的相关性研究

用免疫遗传学方法对57例青少年牙周炎（JP）患者与补体第三组份（C3）及备解素因子B（Bf）遗传多态性的相关性进行研究。结果发现，C3FS表型及C3F等位基因与JP里正相关性，C3SS表型及CS等位基因与JP呈负相关性。而Bf表型及等位基因在JP患者中的分布与正常人相比无显著性差异。提示C3的遗传多态性可能与JP的易感性基因有关联，这一结果可能为JP遗传机制的研究提供参考资料。     

人体硬组织DNA遗传多态性的研究

用ＰＣＲ扩增片段长度多态性技术分析了３０５名汉族人群ＶＮＴＲ位点ＤＩＳ８０、Ｄ１７Ｓ３０遗传多态性，结果发现：ＤＩＳ８０有２２个等位基因，基因频率０．５７～３３．１４，杂合度８２．６３％；Ｄ１７Ｓ３０有１３个等位基因，基因频率０．７８～３５．８８，杂合度８２．６３％。家系分析证实，这些ＶＮＴＲ位点等位基因遗传符合孟德尔遗传规律。同时对同一个体的血－骨、血－牙样本ＤＮＡ进行研究，均获得一致性分析结果。表明骨牙ＤＮＡ分析完全可以代表软组织的基因分析应用于个体识别和遗传学研究等领域。     

200例国人DNA纹印基因频率分布—D2S44及D17S79位点的DNA多态性

DNA 纹印具有高度多态性,是解决个体识别及亲子鉴定等问题的最新技术.本文利用此项技术,研究了200名国人的D2S44及D17S79二位点的等位基因频率分布.结果发现D2S44位点片段带大小变异数为29,其中可检出两个等位基因团.一在7.7和9.1kb 之间,最常见于8.0kb,另一在9.8和14.1kb 之间,最大频率在11.1kb,占17.25%。D17S79位点片段带大小变异数为27,等位基因团在约4kb大小的范围内,最大频率在3.4kb,占29.55%.与国外报道结果相比,显示种族差异.     

扩张性心脏病与备解素因子B遗传多态现象相关性的研究

利用琼脂糖凝胶高压电泳及免疫固定技术检测了66例扩张性心肌病（DCM）患者的备解素因子B（Bf）的遗传多态性，并与326例健康献血员作了比较。结果发现：DCM组的BfFF表型和Bf*F频率明显升高（x2分别为17．4和16．0，P＜0．001），而BfSS与Bf*S的频率则明显降低（x2分别为3．902和11．491，P＜0．05）；关联分析显示Bf的遗传多态性与DCM的遗传易感性相关联。这一结果提示BfFF和Bf*F可作为DCM的易感性标记之一。     

C++语言中多态性的分析

通过分析C 语言多态性的各种形式、特征及其在程序设计中的应用,说明多态性是对相似问题求解的有效方法.     

Comparison of STR polymorphism among a Kirgiz ethnic group from Sinkiang and other groups

Objective To study the genetic relationship between Kirgiz individuals living in Sinkiang China and analyze the difference among Kirgiz and the other population with STR polymorphisms. Methods PCR amplification was performed using PE9700, the PCR products were typed by automated sequencer and genescan. Results A database of nine STR loci of Kirgiz was established. It shows there are at least 73 STR alleles and 191 genotypes in Kirgiz. Genotype frequencies distribution showed no deviation from Hardy-Weinberg equilibrium by χ^2 -test. Kirgiz was compared with the other Chinese ethnic groups, then the American Black and the White. Conclusion These results suggested that the nine STR loci and Amelogenin locus were very useful in human identification, biological archaeology and gene resource studies.     

5-HTTLPR多态性与抑郁症及其临床特征的相关性

目的探讨中国汉族人群5-羟色胺转运体基因连锁多态性区域(5-HTTLPR)与抑郁症及临床特征的相关性。方法运用多聚酶链式反应技术(PCR)检测64例重型抑郁症患者和67例正常对照的5-HTTLPR多态性分布。根据抑郁症患者汉密尔顿抑郁量表评分,分析该多态性与抑郁症临床特征的相关性。结果抑郁症组5-HTTLPR多态性的L/L基因型的频率(9.4%)低于对照组(19.4%),但没有显著性差异(2χ=3.038,P=0.219);女性抑郁症组的L/L基因型的频率(2.9%)低于对照组(13.9%),但没有显著性差异(2χ=2.766,P=0.251);症状学分析显示抑郁情绪与5-HTTLPR基因多态性有关,具有等位基因L及其纯合子的患者抑郁情绪得分显著较低(P<0.05)。结论5-HTTLPR基因多态性L/L纯合子可能是抑郁症特别是女性发病的保护因子;等位基因L及其纯合子可能是抑郁症患者抑郁症状的保护因子。     

对氧磷-酶1192位Gln-Arg基因多态性与冠心病的相关性

目的确定对氧磷酶1(PON1)基因192位Gln-Arg多态性与陕西地区汉族冠心病(CHD)患者发病之间的关系。方法对动脉造影确诊的222例冠心病患者和164例非冠心病患者,采用PCR-酶切法检测PON1基因192位Gln-Arg多态性并进行对比分析。结果陕西地区汉族人群等位基因R和Q频率分别为60.23%和39.77%,其中CHD组RR、QR、QQ基因型分别占41.44%、39.64%、18.92%,对照组RR、QR、QQ基因型分别占35.98%、45.73%、18.29%;CHD组等位基因R频率占61.26%,Q频率占38.74%,对照组的等位基因R频率占58.84%,Q频率占41.56%,组间比较无显著性差异(P>0.05);心肌梗死和非心肌梗死、冠状动脉病变不同程度间等位基因R和Q频率及RR、QR、QQ基因型之间无显著性差异(P>0.05)。结论陕西汉族人群PON1192位Gln-Arg基因多态性与CHD发病之间无相关性。