Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read A P
Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
Hum Mol Genet. 1997 Jul;6(7):1029-36. doi: 10.1093/hmg/6.7.1029.
We describe the complete exon-intron structure of the human elastin (ELN) gene located at chromosome 7q11.23. There are 34 exons occupying approximately 47 kb of genomic DNA. All exons are in-frame, allowing exon skipping without disrupting the reading frame. Microsatellites are located in introns 17 and 18. Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. We list primer pairs for amplifying each exon, with flanking intron, from genomic DNA to allow detection of point mutations in the ELN gene. We show that some patients with isolated SVAS have point mutations that are predicted to lead to premature chain termination. Knowledge of the genomic structure will allow more extensive mutation screening in genomic DNA of patients with SVAS and other conditions.
我们描述了位于染色体7q11.23的人类弹性蛋白（ELN）基因完整的外显子-内含子结构。该基因有34个外显子，占据约47kb的基因组DNA。所有外显子都符合读框，允许外显子跳跃而不破坏阅读框。微卫星位于内含子17和18中。此前曾报道两名患有主动脉瓣上狭窄（SVAS）的患者存在ELN基因全部或大部分缺失的情况，而且SVAS也是威廉姆斯综合征的常见特征，该综合征患者的ELN基因为半合子状态。我们列出了用于从基因组DNA中扩增每个外显子及其侧翼内含子的引物对，以便检测ELN基因中的点突变。我们发现一些孤立性SVAS患者存在预计会导致提前链终止的点突变。对基因组结构的了解将有助于对SVAS患者及其他病症患者的基因组DNA进行更广泛的突变筛查。
