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印度克罗恩病患者中不存在常见的NOD2突变。

Common NOD2 mutations are absent in patients with Crohn's disease in India.

作者信息

Pugazhendhi Srinivasan, Amte Aneesh, Balamurugan Ramadass, Subramanian Venkataraman, Ramakrishna Balakrishnan S

机构信息

Department of Gastrointestinal Sciences, Christian Medical College, Vellore 632004, India.

出版信息

Indian J Gastroenterol. 2008 Sep-Oct;27(5):201-3.

Abstract

BACKGROUND

Crohn's disease is being increasingly diagnosed in the Indian subcontinent. Three apparently common mutations in the NOD2 gene are found in up to 30% of sporadic patients with Crohn's disease in western countries. We examined whether such mutations are also found in Indian patients with Crohn's disease.

METHODS

Venous blood was collected from 82 patients (age range: 7-65 years, 53 men) with Crohn's disease and 149 control subjects; DNA was extracted and subjected to polymerase chain reaction using specific primers. The amplified fragments of size 185, 163 and 151 bp for R702W, G908R and 1007fs, respectively, were digested with MspI, HhaI and ApaI, and the restriction pattern noted after electrophoresis.

RESULTS

Twenty-eight patients had ileocolonic disease, 26 ileal disease, 20 colonic disease and 8 had disease limited to proximal small bowel or stomach. None of the 82 patients showed any of the three NOD2 mutations. The control subjects (93 men) had a variety of chronic gastrointestinal disorders (ulcerative colitis 52, irritable bowel syndrome 30, intestinal tuberculosis 20, colon cancer 7, miscellaneous 37). None of the control subjects showed a mutation in any of the three NOD2 mutation analyses.

CONCLUSION

The three NOD2 gene mutations described above are uncommon in Indian patients with Crohn's disease. This study complements information provided by recent studies on NOD2 mutations in Indians.

摘要

背景

在印度次大陆,克罗恩病的诊断率日益上升。在西方国家,高达30%的散发性克罗恩病患者中发现了NOD2基因的三种明显常见突变。我们研究了印度克罗恩病患者中是否也存在此类突变。

方法

采集了82例克罗恩病患者(年龄范围:7至65岁,男性53例)和149例对照者的静脉血;提取DNA并使用特异性引物进行聚合酶链反应。分别针对R702W、G908R和1007fs的185、163和151bp大小的扩增片段用MspI、HhaI和ApaI进行消化,并在电泳后记录限制性酶切图谱。

结果

28例患者患有回结肠疾病,26例患有回肠疾病,20例患有结肠疾病,8例疾病局限于近端小肠或胃。82例患者中无一例显示出三种NOD2突变中的任何一种。对照者(男性93例)患有各种慢性胃肠道疾病(溃疡性结肠炎52例、肠易激综合征30例、肠结核20例、结肠癌7例、其他37例)。在三种NOD2突变分析中,对照者无一例显示出突变。

结论

上述三种NOD2基因突变在印度克罗恩病患者中并不常见。本研究补充了近期关于印度人NOD2突变研究提供的信息。

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