山白树微卫星特征分析及分子标记开发

目的:山白树是中国特有珍稀濒危植物。分析微卫星特征,开发其微卫星分子标记。方法:采用Illumina二代测序技术建立山白树基因组文库和微卫星文库,分析微卫星组成类型,设计山白树引物,用5个山白树种群进行扩增和检测以分析其多态性。结果:二代测序共返回38,942,660条100 bp配对序列,通过质量修剪及拼接得到200,386条拼接序列,其中长度 335 bp的为7 614条;在7 614条序列中检测出微卫星位点694个,其中单核苷酸重复最多,单核苷酸重复中A/T重复数量最多;二核苷酸长度变异最大,其中AG/CT重复数量最多,重复长度变异情况与微卫星丰度呈正相关。为36条山白树微卫星重复次数高的序列设计引物,经聚合酶链式反应(PCR)扩增和聚丙烯酰胺凝胶电泳检测,20对引物多态性丰富且条带清晰,等位基因数(NA)在3~6之间,平均为4,多态性信息含量(PIC) 0. 535 5~0. 754 0,平均值0. 615 5。对5个山白树种群的群体遗传分析发现,该物种遗传多样性较高(h=0. 697 5,I=1. 436 8,HE=0. 702 2),种群遗传分化显著(Fst=0. 374)。结论:通过部分山白树的群体遗传也可以说明本次开发的引物可用性较好。该研究开发了山白树微卫星分子标记引物,为山白树分子遗传学奠定了基础。     

Association Study of Matrix Metalloproteinases Gene Polymorphisms with Susceptibility to Rheumatoid Arthritis: A Meta-Analysis

Objective: Association of matrix metalloproteinases (MMPs) gene polymorphisms with rheumatoid arthritis is controversial. We conduct a meta-analysis to clarify this dispute.

Methods: We systematically searched the electronic PUBMED, EMBASE and CNKI databases for research articles about MMPs (MMP-1, MMP-2, MMP-3, MMP-9) gene polymorphisms and rheumatoid arthritis (RA) up to January 2015. According to the heterogeneity, fixed-effects or random-effects models were used to calculate crude odds ratios (ORs) and 95% confidence intervals (95% CIs).

Results: A total of 11 articles involving 2143 cases and 2049 controls were included in this meta-analysis. Overall, no significant associations were observed between MMP-1-1607 1G/2G polymorphism and RA. Stratification by ethnicity, no significant associations were observed in Caucasian populations. Similarly, no significant associations were observed between MMP-3-1171 5A/6A, MMP-9-1562 C/T polymorphisms and RA in overall and Caucasian populations, respectively. However, a weak association was found between MMP-2-1306 C/T polymorphism and RA (C vs. T, OR?=?0.813, 95%CI?=?0.694–0.953, p?=?0.010) in overall populations.

Conclusions: The present meta-analysis suggests that MMP-1-1607 1G/2G, MMP-3-1171 5A/6A, MMP-9-1562 C/T polymorphisms are not associated with the susceptibility of RA, but MMP-2 -1306 C/T is weakly associated with susceptibility to RA. Further studies with more sample size are needed for definitive conclusions.     

珠海地区NRXN1和NLGN1基因多态性与儿童孤独症的关联性研究

目的 探索珠海地区NRXN1和NLGN1基因多态性与儿童孤独症易感性的关系,为孤独症的防治提供科学依据。方法 采用病例对照的研究方法,选取2011－2016年就诊于珠海市妇幼保健院的123例珠海地区的孤独症患儿和506例健康对照。采用口腔拭子采集口腔上皮细胞以提取DNA,采用Sequenom Mass Array platform分型技术对NRXN1基因上的rs1045881和rs11885824以及NLGN1上的rs9855544进行基因分型。结果 NRXN1基因上的rs1045881和rs11885824以及NLGN1上的rs9855544位点基因型分布在孤独症组和健康对照组比较,差异无统计学意义;但NLGN1基因上的rs9855544与NRXN1基因上的rs11885824存在基因与基因间的交互作用(预测准确率为0.480,交叉验证一致性为10/10,P=0.040)。结论 NRXN1基因上的rs1045881和rs11885824以及NLGN1上的rs9855544位点基因多态性可能与孤独症易感性没有关联,但NLGN1基因上的rs9855544与NRXN1基因上的rs11885824之间的交互作用可能是孤独症易感性的影响因素。     

中国优秀马拉松运动员ACE基因I/D多态性频率分布特征

通过分析中国马拉松运动员ACE基因I/D多态频率分布特征,探讨其作为杰出耐力基因标记的可行性。选择我国马拉松健将、国际健将级运动员26名作为马拉松运动员组,汉族学生216名作为对照组。对两组受试者进行ACE基因I/D多态性测定。结果显示:我国马拉松运动员组的等位基因频率和基因型频率与对照组比较无显著差异,其中15名国际健将中无一DD型纯合子,提示我国优秀马拉松运动员的纯合子DD型频率低下是其ACE基因多态频率分布的主要特征。     

MPO和NAT2基因多态性与成人急性白血病易感性

目的研究髓过氧化物酶（MPO）和N-乙酰基转移酶2（NAT2）基因多态性与成人急性白血病易感性的关系.方法用1∶1配对病例-对照研究方法,收集成人急性白血病患者和对照各139例,应用聚合酶链-内切酶片段（PCR-RFLP）方法分析病例组和对照组MPO和NAT2的基因多态性,比较不同基因型与成人急性白血病易感性.结果 MPO-463A等位基因分布频率病例组低于对照组,MPO（G-463A）各基因型在病例组与对照组中的分布差异有统计学意义（χ^2=7.026,P〈0.05,OR=0.505,95%CI=0.325～0.847）.NAT2乙酰化表型频率在病例组与对照组的分布差异无统计学意义（χ^2=2.260,P〉0.05）;但NAT2＊5 481T等位基因和NAT2＊6 590A等位基因分布频率病例组高于对照组（P〈0.05）.结论 MPO与成人急性白血病易感性相关,携带MPO（G-463A）突变基因型（GA/AA）个体可降低白血病的发病风险;NAT2乙酰化表型可能与白血病的易感性无关,但NAT2＊5（C481T）、NAT2＊6（G590A）单核苷酸突变频率病例组明显高于对照组.     

Content of HSP70 in rats with hereditary stress-induced arterial hypertension

Sensitivity of normotensive Wistar rats and NISAG rats (with hereditary arterial hypertension) to heat stress is compared at the organism and cell levels. High temperature sensitivity of NISAG rats correlates with a low content of the main heat shock protein HSP70. This relationship can serve as a biochemical marker of predisposition to arterial hypertension. Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 124, No. 8, pp. 171–173, August, 1997