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双语推荐:个体多态性

乳腺癌是危害女性健康的主要恶性肿瘤之一,其发生与个体遗传易感性不同有关,单核苷酸多态性可导致个体的遗传易感性.明确乳腺癌的基因多态性有助于发现乳腺癌易感人群及制定肿瘤预防策略.
Breast cancer is one of the malignant tumors in women.The incidence of breast cancer has relationship with genetic susceptibility of different individuals.Single nucleotide polymorphism can lead to individual genetic susceptibility.To find out gene polymorphism of breast cancer contributes to discover the populations susceptible of breast cancer and make strategies to prevent cancer.

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目的调查福建福州地区汉族群体遗传15个STR基因座多态性参数,同时评估AmpFlmSTR IdentifilerTM体系应用于该地区汉族人群进行法医学个体识别及亲子鉴定的价值。方法应用AmpFlmSTR IdentifilerTM体系荧光标记复合扩增系统检测350名福建福州地区汉族无关个体15个STR基因座的多态性,统计计算群体遗传学参数。结果15个STR基因座的基因型分布均符合Hardy—Weinberg平衡(P〉0.05),发现4个稀有等位基因。15个STR遗传标记均具有高度多态性,杂合度0.12~0.405,匹配概率0.032~0.225,个体识别力0.775~0.968,多态性信息含量0.55—0.86,非父排除率0.285~0.761。结论15个STR基因座在福建福州地区有较高的多态性。通过这份样本实验和等位基因频率总结,得到了福建福州人群更多法医学亲权鉴定和个人识别等位基因多样性的客观数据。
Objective To investigate the genetic polymorphism and its Forensic application of 15 STR loci from AmpFlmSTR IdentifilerTM system in personal identification and paternity testing in Han race population in Fuzhou Fujian. Methods Allele frequencies for 15 STR loci found in AmpFlmSTR IdentifilerTM kit were determined in a sample of 350 unrelated Chinese individuals in Fuzhou Fujian.Population genetics parameter for Forensic using were calculated. Results No deviations of the observed allele frequency from Hardy-Weinberg equilibrium expectations were found for Chi-square test (P>0.05).4 off ladder alleles (at 15 STR loci) were found.All 15 loci in AmpFlmSTR IdentifilerTM system show highly polymorphic, Observed heterozygosity(Ho) varies between 0.12and 0.405, matching probability between 0.032 and 0.225, power of discrimination between 0.775and 0.968, polymorphic information content (PIC) varies between 0.55 and 0.86, power of exclution between 0.285 and 0.761. Conclusion All 15 loci in Am

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ACE基因多态性是研究较为全面的高血压候选基因,与种族、性别、年龄等易感因素和肥胖、高盐饮食、吸烟等危险因素有关。总结血管紧张素转换酶基因多态性与高血压关系的研究,结合个体基因多态性可提高高血压风险评估的精确性,并为病人提供个体化的健康教育。
Gene polymorphism of angiotensin converting enzyme is a more comprehensive study on candidate genes for hypertension.And it is related with predisposing factors including race,gender,age and obesity,high salt di-et,smoking and other risk factors.It summarized the studies on relationship between gene polymorphism of angiotensin converting enzyme and hyperten-sion.Combined with the individual gene polymorphism can improve the accu-racy of hypertension risk assessment,so as to provide individualized health education for the patients.

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目的 探讨GSTP1和GSTM1及GSTT1基因多态性与苯乙烯接触工人尿中苯乙烯巯基尿酸(PHEMA)水平的关系.方法 选取山东省某机车外壳生产厂苯乙烯作业人员126名为接触组,非苯乙烯作业人员150名为对照组.应用限制性片段长度多态性聚合酶链式反应(PCR-RFLP)法检测个体GSTP1基因多态性,多重PCR法检测GSTM1和GSTT1的基因多态性,分析GSTP1、GSTM1、GSTT1基因多态性与苯乙烯接触工人尿中PHEMA水平的关系.结果 本次调查中3个基因型分布符合中国人群分布特征.在高浓度苯乙烯的接触水平下,携带GSTP1 (exon5,A105G)野生基因型AA者尿中PHEMA浓度(43.58 mg/g)明显高于携带突变基因型AG和GG者(AG:29.769 mg/g; GG:30.245mg/g),携带GSTM1野生型基因型者尿中PHEMA浓度(40.197 mg/g)明显高于携带缺失型基因型者(28.866 mg/g),差异有统计学意义(P<0.05).未发现GSTT1野生型与缺失型的个体有明显差异.对照组中3个基因多态性个体尿中PHEMA的水平关系不明显.结论 GSTP1和GSTM1基因多态性可能与个体尿中PHEMA水平有关系.
Objective To investigate the relationship between genetic polymorphisms of glutathione S-transferase P1 (GSTP1),glutathione S-transferase M1 (GSTM1),and glutathione S-transferase T1 (GSTT1) and urinary level of mercapturic acids of styrene (PHEMAs) in workers exposed to styrene.Methods One hundred and twenty-six workers exposed to styrene were selected as exposure group,and 150 workers without styrene exposure as the control group; all the workers came from a locomotive shell production factory in Shandong Province,China.The PCR-RFLP technique was applied to analyze the individual genetic polymorphisms of GSTP1; the multiplex PCR technique was used to investigate the genetic polymorphisms of GSTM1 and GSTT1; the relationship between genetic polymorphisms of GSTP1,GSTM1,and GSTT1 and urinary level of PHEMAs in workers exposed to styrene was statistically analyzed.Results The three genotypes investigated in the study had a distribution in accordance with the Chinese population.With expos

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巨(Bagarius yarrelli)为云南特有的经济鱼类,利用随机扩增多态性 DNA(RAPD)技术对元江下游的河口巨野生群体进行了遗传多样性分析,在50条随机引物中筛选出19条多态性较好的引物,通过 PCR 扩增,19条引物在巨群体中共检测到67个位点,其中多态性位点66个,平均多态性位点比率为98.51%,个体间平均遗传相似系数为0.8909,个体间平均遗传距离为0.1176;群体 Nei′s 基因多样性指数为0.2916, Shannon 信息指数为0.4269,结果表明巨野生群体具有较高的遗传多样性。
Bagarius yarrelli is an ecomomic endemic fish in the Red River , in Yunnan Province, China.The genetic di-versity of B.yarrelli populations from Hekou was studied by random amplified polymorphic DNA (RAPD) technology.19 polymorphic primers were screened in 50 random primers by PCR(Polymerase Chain Reaction), 67 loci were detected in B.yarrelli fish groups, of which 66 loci were polymorphic loci, the average ratio was 98.51%, The average genetic simi-larity index and average genetic distance were 0.890 9 and 0.117 6, respectively; The Nei′s gene diversity index was 0.291 6 and shannon′s information index was 0.426 9.The results showed that there was a high genetic diversity of the Hekou B.yarrelli.The wild B.yarrelli population genetic diversity through RAPD analysis can provide reference for the ra -tional development and protection of B.yarrelli fish germplasm resources in the future.

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临床医学上一致认为药物的基因多态性对于抗癫痫药的个体差异有着重要的意义,基因多态性导致个体出现不同的药理和毒理作用。遗传药理学是一门遗传学学科,随着人们对遗传药理学的深入研究,个体化用药有了新的局面。本文首先分析了抗癫痫药的种类及其疗效,然后详细介绍了当前基因多态性对抗癫痫药疗效研究进展。
Clinical agrees that drug''s gene polymorphism has important meaning for individual differences of antiepileptic drugs, gene polymorphism leads individuals appear different pharmacological and toxicological effects. Pharmacogenetics is a genetics discipline, along with in-depth study of pharmacogenetics, personalized medicine has a new situation. This paper firstly analyzes the types and the effect of antiepileptic drugs, then discusse gene polymorphism on epilepsy medicine clinical research progress.

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为黔东南小香鸡的品种选育提供理论依据,采用 PCR-SSCP 分析和 DNA 测序方法,检测了雌激素受体1(ESR1)基因的多态性,并分析其与黔东南小香鸡产蛋性状的相关性。结果表明:黔东南小香鸡 ESR1基因 In1位点处于高度多态,In4位点处于中度多态,在 In1、In4形成单链构型多态性,偏离 Hardy-Weinberg 平衡。在 In1位点,开产日龄 T1 T2与 T1 T3、T3 T3基因型个体间差异显著,平均连产天数 T1 T2与T1 T1基因型个体间差异显著,200日龄产蛋数 T1 T2与 T1 T3、T1 T1基因型个体间差异显著;开产体重 T1 T1与 T1 T3基因型个体间差异极显著,与 T3 T3基因型个体间差异显著。在 In4位点,开产日龄、200日龄产蛋数DD 与 CC 基因型个体间差异显著。
The ESR1 gene’s polymorphism and correlation between ESR1 gene’s polymorphism and egg laying of Qiandongnan Xiaoxiang hens were determined and analyzed by PCR-SSCP and DNA sequence methods to provide the theoretical basis for variety breeding of Qiandongnan Xiaoxiang chicken.The results showed that ESR1 gene on In1 and In4 loci is in high and moderate polymorphic status respectively,and single-stranded conformation polymorphism on In1 and In4 loci deviates from Hardy-Weinberg equilibrium.On In1 locus,there are significant differences in age at first egg between individuals of T1 T2 genotype and individuals of T1 T3 and T3 T3 genotypes in days of average continuous egg laying between individuals of T1 T2 and T1 T1 genotypes,in eggs of hens with 200 days old between individuals of T1 T2 genotype and individuals of T1 T3 and T1 T1 genotypes and there is very significant difference and significant difference in body weight at first egg between individuals of T1 T1 and T1 T3 gen

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目的探讨白细胞介素-18(IL-18)基因启动子区-137G/C多态性及血清IL—18水平与急性脑梗死的相关性。方法用聚合酶链反应一限制性片段长度多态性(PCR.RrLP)技术检测急性脑梗死患者153例及健康对照组114例的IL-18基因启动子区-137G/C多态性,用酶联免疫吸附法(ELISA)检测两组血清IL-18浓度。结果与对照组相比,急性脑梗死组IL-18基因启动子区-137G/C多态性各基因型分布及等位基因频率差异均有统计学意义(P〈0.05),携带c等位基因的个体急性脑梗死的相对风险度要比未携带者增加1.672倍。急性脑梗死组血清IL-18浓度明显高于对照组(P〈0.05),急性脑梗死组携带C等位基因的个体的血清IL-18浓度明显高于未携带者(P〈0.05)。结论IL-18基因启动子区-137G/C多态性与急性脑梗死的发病具有相关性,携带c等位基因可促使个体高度表达IL-18,通过影响IL-18血清浓度从而对急性脑梗死的发生发展产生作用,增加急性脑梗死的发病风险。
Objective To investigate the correlation between polymorphism of promoter region of interleulin -18 (IL-18) gene at position -137G/C and serum IL-18 level with acute cerebral infarction .Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of promoter region of IL-18 gene at position -137G/C in 153 cases of acute cerebral infarction and 114 normal controls,and enzyme-linked immunosorbent assay (ELISA) was used to test serum IL-18 level in the two groups.Results There was significant difference in the genotype distribution and allele frequency of polymorphism of promoter region of IL -18 gene at position-137G/C between acute cerebral infarction group and normal controls (P<0.05).The risk of acute cerebral infarction to the carriers with C allele genetype increased to 1.672 times as compared with the cases without C allele genotype .The serum IL-18 level in the acute cerebral infarction group was significantly higher th

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目的:调查贵州黔南地区汉族人群 D5S818等18个基因座的遗传多态性。方法采用国产 DNATyperTM19荧光标记试剂盒,获得1104名黔南地区汉族无关个体18个 STR 基因座的 DNA 分型,并应用统计软件计算等位基因的分布频率等群体遗传学数据。结果18个 STR 基因座的基因型分布均符合 Hardy-Weinberg 平衡(P >0.05),杂合度(H)在0.622~0.915之间,匹配概率(Pm)在0.017~0.220之间,个体识别概率(DP)在0.780~0.983之间,多态信息含量(PIC)在0.540~0.900之间,非父排除概率(PE)值在0.318~0.826之间。结论18个 STR 基因座具有遗传多态性,在该地区汉族人群的多态性研究中具有较高的应用价值。
Objective To investigate the polymorphism of 18 short tandem repeats (STR) loci of Qiannan Han population. Methods Using domestic DNATyperTM19 fluorescent labeling kit, and combining with PCR amplification and automated fluorescent detection of capillary electrophoresis, we carried out the DNA typing of 18 STR loci of 1, 104 unrelated individuals of Han population from Qiannan in Guizhou, China, and conducted statistical analysis to calculate the distribution of allelic frequency and other population genetics data. Results Genotypes of the 18 STR loci were in line with Hardy-Weinberg equilibrium (P > 0.05). Statistical analysis showed that the population genetics parameters of the 18 STR loci were as follows:heterozygosity (H) ranging from 0.622 to 0.915, matching probability (Pm) 0.017 to 0.220, power of discrimination (DP) 0.780 to 0.983, polymorphism information content (PIC) 0.540 to 0.900, and power of exclusion (PE) 0.318 to 0.826. In the 18 STR loci, the polymorphism i

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目的:探讨汉族人基质金属蛋白酶3(matriX metalloproteinase-3,MMP-3)基因启动子区多态性与结肠癌的关系。方法应用限制性片段长度多态性方法检测116例结肠癌患者和130例正常对照者的MMP-3基因启动区-11715A/6A 多态性,分析其基因型与结肠癌发病风险及临床分期的相关性。结果结肠癌患者5A/5A+5A/6A基因型频率显著高于对照组(OR=2.104,95%CI=1.247~3.549),推断携带5A/5A基因型的个体发生结肠癌的风险明显增加。而且在结肠癌中,MMP-3-11715A/6A 多态性与肿瘤的侵袭转移密切相关,差异有统计学意义(p<0.05)。结论 MMP-3基因启动区-11715A/6A 多态性可能与汉族人群结肠癌的遗传易感性及肿瘤的侵袭转移相关。
OcjectiVe To investigate whether the polymorphism of matriX metalloproteinase-3 ( MMP-3 )promoter contributes to the development and progression of colon cancer in Han nationality population. Methods PCR-restriction fragment length polymorphism was applied to analyze the MMP-3-1171 5A/6A polymorphisms in colon cancer group(116 cases)and normal group(130 cases). Genotype frequencies were compared between patients and matched controls,and the association of genotypes with clinical stages were studied in colon cancer patients. The relativity between the tumor invasion and MMP-3-1171 5A/6A polymorphism in colon cancer patients was analysed. Results The frequency of the 5 A/5 A+5 A/6 A genotypes in the MMP-3 gene polymorphism was significantly higher in colon cancer patients than that of controls( OR=2 . 104 ,95%CI=1 . 247-3 . 549 ),and individuals with 5 A/5 A genotype had an increase risk of developing colon cancer compared to those with 6 A/6 A genotype. The MMP-3-1171 5A/6A polymorphism

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