Sato M, Mori Y, Sakurada A, Fujimura S, Horii A
Department of Molecular Pathology, Tohoku University School of Medicine, Sendai, Japan.
Hum Genet. 1998 Jul;103(1):96-101. doi: 10.1007/s004390050790.
We have previously reported frequent allelic loss in chromosome bands 16q24.1-q24.2 in human lung cancer. Since the H-cadherin (CDH13) gene has been isolated and mapped to this common region of allelic loss, we have investigated this gene in human lung cancer. The reverse transcription/polymerase chain reaction technique has revealed the loss of expression in four (57%) of seven lung cancer cell lines. To study the CDH13 gene further, we have analyzed deletions, genetic alterations, and methylation status at the 5' region of this gene. Three (75%) of four cell lines that have lost expression show a deletion of the CDH13 locus accompanied by hypermethylation of the remaining allele. Moreover, hypermethylation has been observed in nine (45%) of 20 primary lung cancers. These results suggest that a combination of deletion and hypermethylation causes inactivation of the CDH13 gene in a considerable number of human lung cancers.
我们先前曾报道，在人类肺癌中，16号染色体q24.1 - q24.2区域频繁出现等位基因缺失。由于H - 钙黏蛋白（CDH13）基因已被分离并定位到这一常见的等位基因缺失区域，我们对该基因在人类肺癌中的情况进行了研究。逆转录/聚合酶链反应技术显示，在7个肺癌细胞系中有4个（57%）出现表达缺失。为进一步研究CDH13基因，我们分析了该基因5'区域的缺失、基因改变及甲基化状态。在4个表达缺失的细胞系中，有3个（75%）显示CDH13基因座缺失，并伴有其余等位基因的高甲基化。此外，在20例原发性肺癌中有9例（45%）观察到高甲基化。这些结果表明，缺失与高甲基化共同作用导致了相当一部分人类肺癌中CDH13基因的失活。
