Department of Plastic Surgery, Affiliated Hospital of Guangdong Medical College, Zhanjiang, China.
Clin Exp Dermatol. 2012 Apr;37(3):277-83. doi: 10.1111/j.1365-2230.2011.04225.x. Epub 2011 Dec 20.
Keloid disease is the result of a deregulated wound-healing process. Loss of heterozygosity on chromosome 1p36 has been shown to be associated with keloid formation in humans. The cell division cycle 2-like 1 (CDC2L1) gene is known to be essential for eukaryotic cell-cycle control, and has also been mapped to 1p36.
To verify the possible association between keloid disease and somatic mutation of the CDC2L1 gene on chromosome 1p36.
Mutations of the CDC2L1 gene in keloid and healthy skin tissues were screened by denaturing high-performance liquid chromatography, and confirmed by DNA sequencing analysis.
Of the 27 patients with keloid assessed, 21 had mutations. The most prevalent exon affected was exon 7, with 15 patients affected: 10 patients (37%) had a base G deletion at codon 247, and 12 patients (44.4%) had a base A insertion at codon 267 (6 patients (25.9%) had both mutations). The remaining six patients had mutations in exons 11 (codon 433; n = 3) and 14 (codon 520; n = 3). Comparing the keloid skin tissues with the healthy control skin tissues, significant differences were seen between the groups for the base G deletion at codon 247 and the base A insertion at codon 267.
We have identified a correlation between two exon 7 mutations of the CDC2L1 gene and keloid disease. A further study of protein-kinase activity should be conducted to confirm the functionality of the CDC2L1 gene in the prevention of scar formation.
瘢痕疙瘩是一种失调的伤口愈合过程的结果。杂合性缺失在染色体 1p36 上的已经显示与人类瘢痕疙瘩的形成有关。细胞周期蛋白依赖性激酶 2 样 1（CDC2L1）基因被认为是真核细胞周期控制所必需的，并且已经映射到 1p36。
验证 CDC2L1 基因在染色体 1p36 上的体细胞突变与瘢痕疙瘩病之间的可能关联。
通过变性高效液相色谱筛选瘢痕疙瘩和健康皮肤组织中的 CDC2L1 基因突变，并通过 DNA 测序分析进行确认。
在评估的 27 例瘢痕疙瘩患者中，有 21 例有突变。受影响最常见的外显子是外显子 7，有 15 例患者受影响：10 例患者（37%）在密码子 247 处存在 G 碱基缺失，12 例患者（44.4%）在密码子 267 处存在 A 碱基插入（6 例患者（25.9%）同时存在两种突变）。其余 6 例患者在 11 号外显子（密码子 433；n = 3）和 14 号外显子（密码子 520；n = 3）中发生突变。与健康对照皮肤组织相比，在密码子 247 处 G 碱基缺失和密码子 267 处 A 碱基插入方面，瘢痕疙瘩皮肤组织与健康对照组皮肤组织之间存在显著差异。
我们已经确定了 CDC2L1 基因的两个外显子 7 突变与瘢痕疙瘩病之间的相关性。应进一步进行蛋白激酶活性研究，以确认 CDC2L1 基因在预防瘢痕形成中的功能。
