主要来自意大利的威尔逊氏病患者中的24种新突变。
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
作者信息
Lepori Maria Barbara, Lovicu Mario, Dessi Valentina, Zappu Antonietta, Incollu Simona, Zancan Lucia, Giacchino Raffaella, Iorio Raffaele, Vajro Pietro, Maggiore Giuseppe, Marcellini Matilde, Barbera Cristiana, Pellecchia Maria Teresa, Simonetti Rosanna, Kostic Vladimir, Farci Anna Maria Giulia, Solinas Antonello, De Virgiliis Stefano, Cao Antonio, Loudianos Georgios
机构信息
Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy.
出版信息
Genet Test. 2007 Fall;11(3):328-32. doi: 10.1089/gte.2007.0015.
Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.
在此，我们报告了对一组主要来自意大利的134个威尔逊病（WD）家族（268条染色体）的ATP7B基因进行突变分析的结果。使用单链构象多态性（SSCP）和测序方法，我们鉴定出71个致病突变。其中24个是新发现的突变，而另外19个已报道的突变是在本研究的新人群中鉴定出来的。一个已知突变G591D呈现出区域分布特点，因为仅在来自意大利南部普利亚地区的WD患者中38.5%的分析染色体上检测到该突变。ATP7B基因新突变的检测提高了我们的分子分析能力，这对WD的早期诊断和治疗至关重要。
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