Beckmann J S, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham R W, Feingold N, Feingold J
Centre d'Etude du Polymorphisme humain, Paris.
C R Acad Sci III. 1991;312(4):141-8.
Limb-girdle muscular dystrophy (LGMD) is inherited as a monogenic, autosomal recessive trait. A genetically homogeneous group of families from the Isle of La Réunion, comprising individuals at high risk for this disorder, was systematically analysed using a panel of 85 polymorphic markers spanning approximately 30% of the human genome. Linkage was detected between the LGMD gene and the marker D15S25, uncovered with the probe pTHH114 and restriction enzyme RsaI (lod score = 5.52 at a 0 = 0.0), localising this gene onto chromosome 15. Such a lod score corresponds to odds of 3.3 x 105 in favor of linkage versus absence of linkage. Additional families from other populations will need to be examined before the role of this newly identified locus can be understood.
肢带型肌营养不良症（LGMD）以单基因常染色体隐性性状遗传。对来自留尼汪岛的一组遗传同质性家庭进行了系统分析，这些家庭中的个体患该疾病的风险很高，使用了一组85个多态性标记，覆盖了约30%的人类基因组。在LGMD基因与标记D15S25之间检测到连锁关系，该标记由探针pTHH114和限制性内切酶RsaI揭示（在θ = 0.0时，连锁对数得分 = 5.52），从而将该基因定位到15号染色体上。这样的连锁对数得分对应于支持连锁而非无连锁的3.3×105的优势比。在理解这个新发现位点的作用之前，还需要检查来自其他人群的更多家庭。
