肌-眼-脑病和福山型先天性肌营养不良并非等位基因疾病。

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.

作者信息

Ranta S, Pihko H, Santavuori P, Tahvanainen E, de la Chapelle A

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Neuromuscul Disord. 1995 May;5(3):221-5. doi: 10.1016/0960-8966(94)00058-h.

DOI:10.1016/0960-8966(94)00058-h

PMID:7633187

Abstract

Muscle-Eye-Brain disease (MEB) and Fukuyama type congenital muscular dystrophy (FCMD) are clinically similar autosomal recessive diseases, characterized by congenital muscular dystrophy and severe mental retardation, raising the possibility that they might be caused by mutations of the same gene. Recently FCMD was localized to chromosome 9q31-33 by linkage. We performed a linkage study in seven Finnish MEB families with 12 affected patients using markers D9S53, D9S58, D9S59 and HXB. The MEB phenotype was not linked to any of the markers. A multipoint linkage analysis excluded the entire region harboring FCMD. We thus conclude that MEB and FCMD are not allelic.

摘要

肌肉-眼-脑疾病（MEB）和福山型先天性肌营养不良（FCMD）是临床上相似的常染色体隐性疾病，其特征为先天性肌营养不良和严重智力迟钝，这增加了它们可能由同一基因突变引起的可能性。最近，通过连锁分析将FCMD定位到9号染色体的q31-33区域。我们使用标记D9S53、D9S58、D9S59和HXB对7个芬兰MEB家系中的12名患病患者进行了连锁研究。MEB表型与任何标记均无连锁关系。多点连锁分析排除了包含FCMD的整个区域。因此，我们得出结论，MEB和FCMD不是等位基因。