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9例热带胰腺炎患者的基因型-表型相关性及已鉴定的基因突变

Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations.

作者信息

Rajesh G, Elango E M, Vidya V, Balakrishnan V

机构信息

Department of Gastroenterology, Amrita Institute of Medical Sciences, Ponekkara, Kerala, India.

出版信息

Indian J Gastroenterol. 2009 Mar-Apr;28(2):68-71. doi: 10.1007/s12664-009-0022-3. Epub 2009 Aug 21.

DOI:10.1007/s12664-009-0022-3
PMID:19696993
Abstract

The etiopathogenesis of tropical chronic pancreatitis (TCP) remains unclear. Malnutrition, dietary toxins like cyanogens in cassava and micronutrient deficiency are proposed factors. The description and characterization of genetic factors in TCP has added a new dimension to the understanding of pathogenesis of the disease. However, there is sparse data on the association of TCP with cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We report 8 patients of TCP with CFTR gene mutations, including one with a novel mutation, and describe the clinical profile of these patients. Further prospective genetic studies on the association of CFTR gene mutations are essential in order to unravel the genetic basis of TCP.

摘要

热带慢性胰腺炎(TCP)的病因发病机制尚不清楚。营养不良、木薯中的氰化物等饮食毒素以及微量营养素缺乏是推测的因素。TCP中遗传因素的描述和特征为该疾病发病机制的理解增添了新的维度。然而,关于TCP与囊性纤维化跨膜传导调节因子(CFTR)基因突变关联的数据很少。我们报告了8例携带CFTR基因突变的TCP患者,其中包括1例携带新突变的患者,并描述了这些患者的临床特征。为了阐明TCP的遗传基础,进一步对CFTR基因突变关联进行前瞻性遗传研究至关重要。

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本文引用的文献

1
Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India.印度热带慢性胰腺炎中钙敏感受体基因的新突变。
Scand J Gastroenterol. 2008 Jan;43(1):117-21. doi: 10.1080/00365520701580413.
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Chronic pancreatitis. A prospective nationwide study of 1,086 subjects from India.慢性胰腺炎。一项对来自印度的1086名受试者进行的全国性前瞻性研究。
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TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes.
TCF7L2基因多态性不能预测热带钙化性胰腺炎患者患糖尿病的易感性,但在预测糖尿病方面可能与SPINK1和CTSB突变相互作用。
BMC Med Genet. 2008 Aug 16;9:80. doi: 10.1186/1471-2350-9-80.
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Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis.囊性纤维化:碳酸氢盐分泌受损与黏液黏稠症
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Genetic aspects of tropical calcific pancreatitis.热带钙化性胰腺炎的遗传学方面
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Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.降低活性或分泌的胰凝乳蛋白酶C(CTRC)变体与慢性胰腺炎相关。
Nat Genet. 2008 Jan;40(1):78-82. doi: 10.1038/ng.2007.44. Epub 2007 Dec 2.
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Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.囊性纤维化中突变的特征及基因型-表型相关性:来自印度的经验
J Cyst Fibros. 2008 Mar;7(2):110-5. doi: 10.1016/j.jcf.2007.06.004. Epub 2007 Aug 22.
8
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.通过全面分析中国特发性慢性胰腺炎及对照人群中CFTR的突变、变异/单倍型谱以及基因型-表型相关性
Clin Genet. 2007 Jun;71(6):530-9. doi: 10.1111/j.1399-0004.2007.00813.x.
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Tropical pancreatitis - a distinct entity, or merely a type of chronic pancreatitis?热带胰腺炎——是一种独特的疾病实体,还是仅仅是慢性胰腺炎的一种类型?
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