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学科主题: 临床医学
题名:
Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport′s Syndrome
作者: Wang, Fang1; Zhao, Dan1; Ding, Jie1; Zhang, Hongwen1; Zhang, Yanqin1; Yu, Lixia1; Xiao, Huijie1; Yao, Yong1; Zhong, Xuhui1; Wang, Suxia2
刊名: JOURNAL OF MOLECULAR DIAGNOSTICS
发表日期: 2012-11-01
DOI: 10.1016/j.jmoldx.2012.06.005
卷: 14, 期:6, 页:586-593
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Pathology
研究领域[WOS]: Pathology
关键词[WOS]: COL4A5 COLLAGEN GENE ; GENOTYPE-PHENOTYPE CORRELATIONS ; IV COLLAGEN ; HEREDITARY NEPHRITIS ; MUTATION DETECTION ; NATURAL-HISTORY ; MESSENGER-RNA ; ALPHA-CHAINS ; 195 FAMILIES ; SPECTRUM
英文摘要:

A total of 209 unrelated patients of predominantly Han Chinese ethnicity and with X-linked Alport′s syndrome, a clinically heterogeneous hereditary nephritis, were enrolled in the present study to evaluate the ability to make a clinical diagnosis and perform molecular genetics analysis using skin biopsy. A negative or mosaic alpha 5(IV) chain staining in the epidermal basement membrane was detected in 86.2% of male and 93.5% of female patients. COL4A5 mutations were identified in 85% of male patients with a negative alpha 5(IV) chain staining pattern in the epidermal basement membrane. With use of skin biopsy and immu-nostaining, 16.4% of our patients were diagnosed before 3 years of age, and the youngest was diagnosed at 1 year of age. COL4A5 mutations were detected in 22 patients with normal epidermal basement membrane staining for the alpha 5(IV) chain. Analysis of COL4A5 cDNA fragments from skin fibroblasts yielded a mutation detection rate of 83%, which was particularly valuable for identification of cryptic splicing mutations. Furthermore, 83% of COL4A5 mutations identified in the present study were novel. Thus, skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport′s syndrome. (J Mol Diagn 2012, 14:586-593; http://dx.doi.org/10.1016/j.jmoldx.2012.06.005)

语种: 英语
所属项目编号: 30371495 ; 30400482 ; 30801252 ; 81070545 ; 7102148 ; 2006BAI05A07
项目资助者: National Natural Science Foundation of China ; Beijing Natural Science Foundation ; Eleventh Five-Year National Science and Technology Support Program Project
WOS记录号: WOS:000310178600007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63326
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Electron Microscopy, Beijing 100034, Peoples R China

Recommended Citation:
Wang, Fang,Zhao, Dan,Ding, Jie,et al. Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport′s Syndrome[J]. JOURNAL OF MOLECULAR DIAGNOSTICS,2012,14(6):586-593.
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