福山型先天性肌营养不良基因定位于9号染色体q31 - 33区域。

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.

作者信息

Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M ]

机构信息

Dept. Biochemistry, Cancer Institute, Tokyo, Japan.

出版信息

Nat Genet. 1993 Nov;5(3):283-6. doi: 10.1038/ng1193-283.

DOI:10.1038/ng1193-283

PMID:8275093

Abstract

Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. Twenty-one FCMD families, 13 of them with consanguineous marriages, were analysed by genetic linkage analyses with polymorphic microsatellite markers to map the FCMD gene. Significant lod scores were obtained with the markers D9S58 (Zmax = 5.81 at theta = 0.06), D9S59 (Zmax = 4.33 at theta = 0.02), and HXB (Zmax = 3.28 at theta = 0.09) on chromosome 9q31-33. Multipoint analysis placed FCMD between D9S58 and D9S59, with a maximum lod score of 16.93. These markers will be useful for presymptomatic, prenatal and carrier diagnosis of family members carrying FCMD, and they represent important resources for the identification of a gene responsible for FCMD.

摘要

福山型先天性肌营养不良（FCMD）是一种常染色体隐性遗传的严重肌营养不良症，与脑部异常有关。对21个FCMD家系（其中13个家系存在近亲结婚情况）进行了分析，通过使用多态性微卫星标记进行遗传连锁分析来定位FCMD基因。在9号染色体9q31 - 33区域的标记D9S58（在θ = 0.06时Zmax = 5.81）、D9S59（在θ = 0.02时Zmax = 4.33）和HXB（在θ = 0.09时Zmax = 3.28）获得了显著的连锁值。多点分析将FCMD基因定位在D9S58和D9S59之间，最大连锁值为16.93。这些标记将有助于对携带FCMD的家庭成员进行症状前、产前和携带者诊断，并且它们是鉴定导致FCMD的基因的重要资源。