Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.     

The Lewis blood group--a new genetic marker of ischaemic heart disease.

In a cohort of 3383 men aged 53 to 74 in the Copenhagen Male Study we investigated the association between ischaemic heart disease (IHD) and the Lewis blood group, assigned to chromosome 19. Among men with the Le(a-b-) phenotype, 8% had a history of non-fatal myocardial infarction, among others the frequency was 4%. The corresponding odds ratio was (95% confidence interval: CI) 1.9 (1.2-3.0) P < 0.01, men with Le(a-b-) had a risk-factor profile and pattern of disease resembling that of Reaven's syndrome X. In a subsequent prospective study 343 men with arteriosclerotic stigmas were excluded. The men had their morbidity and mortality recorded over the next 4 years. One-hundred-and-one men suffered IHD; 26 dying from IHD. In total 162 men died. Men with Le(a-b-) had an increased risk of death from IHD compared with others. Adjusted for age, relative risk (RR) (95% CI) was: 4.4 (1.9-10.3), P < 0.001, and for all causes of mortality: RR = 1.6 (1.0-2.6), P < 0.05. Men with the Le(a-b-) phenotype had an increased risk of an IHD event compared to men with other phenotypes (RR = 1.6 (0.9-2.8), P = 0.10) and a significantly higher IHD case fatality rate (RR = 2.8 (1.5-5.2), P = 0.01). The finding that the Le(a-b-) phenotype is a genetic marker of IHD risk may have implications in terms of prevention. The Le(a-b-) phenotype may also contribute to providing an explanation for the substantial ethnic differences found in the incidence of IHD. The similar risk-factor profile and pattern of disease found between Le(a-b-) men and individuals with Reaven's syndrome X is hypothesized to be due to a close genetic relationship on chromosome 19.     

中国汉族群体D4S111位点的遗传多态性研究

目的：研究中国汉族群体中α艾杜糖苷酶基因Ｄ４Ｓ１１１位点的遗传多态性。方法：采用扩增片段长度多态性（ＡｍｐＦＬＰ）分析技术，检测了广州地区汉族无血缘关系健康个体９７名。结果：Ｄ４Ｓ１１１位点，在９７名无关个体中发现５个等位基因和９种基因型，等位基因片段长度为８３０～５１０ｂｐ，基因频率为０００５２～０３６０８，ＰＩＣ为０５９６６，杂合性为０７８。结论：中国汉族群体中Ｄ４Ｓ１１１位点具有高度多态性，并与其它种族间存在差异性。     

根除幽门螺杆菌疗效与细胞色素氧化酶P450 2C19基因多态性的关系

目的 比较雷贝拉唑与奥美拉唑三联疗法根除幽门螺杆菌（Hp）的疗效与细胞色素氧化酶P4502 C19（CYP 2C19）基因多态性的关系。方法 采用随机、对照研究方法，将169例因消化不良症状接受常规胃镜检查确诊为慢性胃炎且Hp阳性的连续患者分人两组：雷贝拉唑三联疗法组（RAC组85例）和奥美拉唑三联疗法组（OAC组84例）。Hp诊断依靠组织病理学检查并参考快速尿素酶试验、血清Hp抗体检测结果。RAC组、OAC组均给予三联治疗：RAC组：雷贝拉唑10mg，OAC组：奥美拉唑20mg，两组均联用羟氨苄青霉素1000mg和克拉霉素500mg，全部药物每日2次，疗程7d。采用聚合酶链式反应结合限制性内切酶技术（PCR-RFLP），进行CYP 2C19基因型分析，治疗结束后第28天用^14C尿素呼气实验检测Hp根除疗效。结果 160例完成治疗方案，RAC组及OAC组的Hp根除率按PP分析及ITT分析均无统计学差异（P〉0．05）。根据CYP 2C19基因型分析，160例中，弱代谢型（PM）、中间代谢型（IM）及强代谢型（EM）的Hp根除率分别为95．5%（21／22）、85．9％（73／85）和67．9％（36／53）。PM型及IM型的Hp根除率均显著高于EM型（P〈0．05），而PM型与IM型间差异无统计学意义（P〉0．05）。RAC组中，各基因型的Hp根除率差异无统计学意义（P〉0．05）。OAC组中。IM型与EM型间（P〈0．01）及EM型与PM型间（P〈0．05）差异均有统计学意义。结论 雷贝拉唑与奥美拉唑两种三联疗法均能有效根除Hp。总疗效差异无统计学意义。雷贝拉唑三联疗法疗效较稳定，个体间差异小。PM型及IM型的Hp根除率均较EM型为高。     

556例遗传咨询病例细胞遗传学分析

目的 :分析染色体异常与临床疾病的关系。方法 :应用细胞培养染色体分析技术对 5 5 6例遗传咨询病例进行细胞遗传学检查。结果 :发现 47例染色体结构或数目异常 ,占受检人数的 8.4% ,其中常染色体异常 39例 ,性染色体异常 8例。此外检出 46例 ,XY女性反转综合征 2例。结论 :反复自然流产和不孕不育夫妇及怀疑 Down综合征者应进行染色体检查     

Schizophrenia susceptibility genes on chromosome 13q32

Schizophrenia is a complex mental disorder affecting approximately 1% of the general population worldwide.1 It has a high incidence in the general population, a poor prognosis and a poor outcome, in that it has become a major social problem. Family, twin, and adoption studies have clearly shown that a genetic component is quite likely to play an important role in determining susceptibility to schizophrenia. The genome-wide scan indicates that several chromosomal regions are linked to schizophrenia, some of which have been replicated independently including 6p21-24, 8p21-22, 13q14-33 and 22q11-12.2,3 This study was designed to detect two single nucleotide polymorphisms (SNPs) located in the 13q14-33 region, rs188608 at the STK24 locus and rs2892679 at the GPC6 locus, among Chinese population.     

p38丝裂原激活蛋白激酶对人胚胎肾293细胞一氧化氮合酶基因转录的调控

目的探讨p38 丝裂原激活蛋白激酶(MAPK)家族四种亚型对诱导型一氧化氮合酶(iNOS)基因的转录调控。方法以人胚胎肾293(HEK 293)细胞为靶细胞,采用脂质体(LPS)介导的细胞基因共转染技术、荧光素酶报告基因技术,分别将FLAG-tagged p38 MAPK 4种亚型、含有鼠iNOS基因启动子区的荧光素酶报告基因质粒(piNOS-Luc)、空载体(pcDNA3)、β-半乳糖苷酶表达质粒(pCMV-β)共转染,检测并比较荧光素酶相对活性。结果(1)未加刺激时,在HEK 293细胞中,p38 MAPK中仅有p38α能够诱导iNOS基因启动子的转录活性;(2)在LPS刺激下,p38 MAPK 4种亚型均能够诱导iNOS启动子的转录活性,其中,p38β所诱导的转录活性最高,p38α的诱导作用亦很明显。结论(1)LPS能够在HEK 293细胞中诱导iNOS基因转录活性;(2)在HEK 293细胞中,p38 MAPK参与了静息时及LPS刺激下对iN-OS基因的转录调控。