Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper M J, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler M C, Antignac C
INSERM U423, Université René Descartes, Hôpital Necker-Enfants Malades, Paris, France.
Cytogenet Cell Genet. 1997;78(3-4):240-6. doi: 10.1159/000134666.
Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.
弥漫性平滑肌瘤病（DL）合并阿尔波特综合征（AS）已被证明与COL4A5和COL4A6基因的相邻基因缺失相关，这些缺失的COL4A6断点总是位于该基因的大内含子2中。我们描述了覆盖该位点的四个酵母人工染色体（YAC）克隆以及整个COL4A6基因的精细限制性图谱。这些资源使我们能够精确估计COL4A6内含子2和3的大小以及该基因本身的大小。我们还描述了五个新的缺失，结合先前的报告，可定义一个90 kb的关键区域，在该区域中寻找与DL发病机制相关的基因或其他实体。
