Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann J S
Généthon, Evry, France.
Hum Mol Genet. 1995 Apr;4(4):717-25. doi: 10.1093/hmg/4.4.717.
Previous genetic and physical studies of LGMD2A, an autosomal recessive form of limb-girdle muscular dystrophy, have led to the establishment of a 10-12 Mb YAC contig encompassing the morbid locus. In order to progress toward the identification of the gene involved in LGMD2A, a primary transcription map of this genomic region was generated. The direct cDNA selection strategy was used with three YACs covering the candidate region and two different muscle cDNA libraries. Seventeen transcription units were identified among 171 cDNA fragments analysed. Five sequences corresponded to known genes, and twelve to new ones. They were characterized for their sequences, physical positions within the YAC contig, and expression patterns. Among those specifically transcribed in muscle, the calpain gene is a good positional and functional candidate for LGMD2A.
肢带型肌营养不良症的常染色体隐性形式LGMD2A，先前的基因和物理研究已导致建立了一个包含致病位点的10 - 12 Mb的酵母人工染色体（YAC）重叠群。为了推进对涉及LGMD2A的基因的鉴定，生成了该基因组区域的初级转录图谱。直接cDNA选择策略用于覆盖候选区域的三个YAC和两个不同的肌肉cDNA文库。在分析的171个cDNA片段中鉴定出17个转录单位。五个序列对应于已知基因，十二个对应于新基因。对它们的序列、在YAC重叠群中的物理位置以及表达模式进行了表征。在那些在肌肉中特异性转录的基因中，钙蛋白酶基因是LGMD2A的一个良好的位置和功能候选基因。
