两个芬兰大家族中麦卡德尔病的分子特征分析

Molecular characterization of McArdle's disease in two large Finnish families.

作者信息

Bruno C, Löfberg M, Tamburino L, Jänkälä H, Hadjigeorgiou G M, Andreu A L, Shanske S, Somer H, DiMauro S

机构信息

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

出版信息

J Neurol Sci. 1999 Jun 1;165(2):121-5. doi: 10.1016/s0022-510x(99)00091-x.

DOI:10.1016/s0022-510x(99)00091-x

PMID:10450796

Abstract

We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G-->A), previously reported in one Caucasian patient and in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population.

摘要

我们研究了两个与肌磷酸化酶缺乏症（麦克尔憩室病）无关的芬兰大家族。在其中一个家族中，我们在肌磷酸化酶基因第14外显子的540密码子处发现了一个新的无义突变，该突变将编码的谷氨酸转变为终止密码子（E540X）。第二个家族在第14内含子的5'剪接位点存在一个剪接连接突变（1844+G-->A），此前在一名白种人患者和一个近亲的德鲁兹家族中已有报道。这些数据进一步扩充了与麦克尔憩室病相关的突变列表，并证实麦克尔憩室病在芬兰人群中也存在遗传异质性。