Fougerousse F, Broux O, Richard I, Allamand V, de Souza A P, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C
Fondation Jean Dausset, CEPH, Paris, France.
Hum Mol Genet. 1994 Feb;3(2):285-93. doi: 10.1093/hmg/3.2.285.
A gene responsible for an autosomal recessive form of limb girdle muscular dystrophy (LGMD2, MIM number 253600) has been localized on chromosome 15. After genotyping additional markers of this chromosome, two were found to flank the disease locus within an interval that was assessed as 7 centiMorgans. The screening of the CEPH YAC libraries with the corresponding probes allowed the isolation of YACs which were used in fluorescence in situ hybridization to define the LGMD2 cytogenetic interval as 15q15.1-15q21.1. Four different approaches were pursued for the establishment of the physical map of this area which allowed the assembly of an uninterrupted YAC contig spanning an estimated 10-12 megabases, with an average STS resolution of 140 kb or for the 25 polymorphic microsatellites on this map, of 400 kb. Twelve genes and 25 genetic markers were positioned in this contig, which is constituted of a minimum of 10 clones.
一种导致常染色体隐性肢带型肌营养不良症（LGMD2，MIM编号253600）的基因已定位在15号染色体上。在对该染色体的其他标记进行基因分型后，发现有两个标记位于疾病基因座两侧，其区间经评估为7厘摩。用相应探针筛选CEPH YAC文库，分离出了用于荧光原位杂交的YAC，从而将LGMD2细胞遗传学区间定义为15q15.1 - 15q21.1。为构建该区域的物理图谱采用了四种不同方法，得以组装出一个不间断的YAC重叠群，跨度估计为10 - 12兆碱基，平均STS分辨率为140 kb，对于该图谱上的25个多态微卫星而言，分辨率为400 kb。12个基因和25个遗传标记定位在这个由至少10个克隆构成的重叠群中。
