Passos-Bueno M R, Bashir R, Moreira E S, Vainzof M, Marie S K, Vasquez L, Iughetti P, Bakker E, Keers S, Stephenson A
Departamento de Biologia, Universidad de São Paulo, Brazil.
Genomics. 1995 May 1;27(1):192-5. doi: 10.1006/geno.1995.1024.
The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated with this phenotype was a locus on 15q based on linkage analysis in families from a French geographic isolate. These results have been confirmed in other populations, but it was shown that there is genetic heterogeneity for this form of LGMD. Recently, a second locus has been mapped to chromosome 2p. The confirmation of the mapping of this second locus in LGMD families from different populations is of utmost importance for the positional cloning of this gene (HGMW-approved symbol LGMD2B). In this publication, haplotypes generated from five chromosome 2 markers from all of the known large families linked to chromosome 2p are reported together with the recombinants that show the current most likely location of the LGMD 2B gene.
轻度常染色体隐性肢带型肌营养不良症（LGMD）是一组异质性肌肉疾病。基于对来自法国一个地理隔离区域家庭的连锁分析，首个被定位并与该表型相关的基因是位于15号染色体长臂上的一个位点。这些结果在其他人群中得到了证实，但研究表明这种形式的LGMD存在遗传异质性。最近，第二个位点被定位到2号染色体短臂。对于该基因（HGMW批准符号为LGMD2B）的定位克隆而言，在来自不同人群的LGMD家庭中确认这第二个位点的定位至关重要。在本出版物中，报告了从所有已知的与2号染色体短臂连锁的大家系中五个2号染色体标记产生的单倍型，以及显示LGMD 2B基因当前最可能位置的重组体。
