کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2782031 | 1568163 | 2007 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel mutation of TGFβ1 in a Chinese family with Camurati-Engelmann disease
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شناسی تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A novel mutation of TGFβ1 in a Chinese family with Camurati-Engelmann disease A novel mutation of TGFβ1 in a Chinese family with Camurati-Engelmann disease](/preview/png/2782031.png)
چکیده انگلیسی
Camurati-Engelmann disease (CED) [OMIM 131300] is a rare autosomal dominant disorder characterized by bone pain and osteosclerosis affecting the diaphysis of long bones. It has been previously reported that CED is caused by mutations of the transforming growth factor beta 1 (TGFβ1) gene on chromosome 19q13.1-q13.3. Until now, seven mutations (LLL12-13ins, Y81H, R156C, R218C, R218H, H222D, C225R) in Australian, French, Belgian, Japanese, and European families have been reported and these data showed that there was no correlation between the nature of the mutations and the variability of the clinical manifestations. In this study, we found a Chinese family with CED and observed some intra-familial clinical variability and symptoms that became more severe with the age. A new TGFβ1 mutation (E169K) in exon 2 was identified in the Chinese family using polymerase chain reaction, direct sequencing analysis of PCR products and single-strand conformation polymorphism analysis. This mutation has not been previously reported in other countries in the world.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Bone - Volume 40, Issue 6, June 2007, Pages 1630-1634
Journal: Bone - Volume 40, Issue 6, June 2007, Pages 1630-1634
نویسندگان
Songlin Wu, Shuyuan Liang, Yan Yan, Yuequn Wang, Fang Li, Yun Deng, Wen Huang, Wuzhou Yuan, Na Luo, Chuanbing Zhu, Ying Wang, Yongqing Li, Mingyao Liu, Xiushan Wu,