摘要
目的通过检测人类雄激素受体（HUMARA）基因，分析Kaposi肉瘤组织x染色体失活方式，探讨其克隆性起源。方法选择25例女性石蜡包埋组织，其中Kaposi肉瘤组15例，皮肤良性血管瘤组10例。分别提取DNA，经甲基化敏感限制性内切酶HpaⅡ酶切消化，聚合酶链反应扩增HUMARA基因，产物经10％聚丙烯酰胺凝胶电泳，溴化乙锭染色后显示该基因多态性，以此判断K@osi肉瘤克隆状态。结果15例Kaposi肉瘤石蜡组织标本中，HUMARA基因杂合子13例，其中x染色体HUMARA杂合性丢失（即酶切前为2条带、酶切后为1条带）12例（12／13），为单克隆性；10例皮肤良性血管瘤中，HUMARA基因杂合子9例，仅1例杂合性丢失，两组差异有统计学意义（P〈0．01）。不同民族、分期和HIV感染的Kaposi肉瘤单克隆率差异无统计学意义（P〉0．05）。结论Kaposi肉瘤为单克隆肿瘤。
Objective To analyze the clonality in Kaposi＇s sarcoma （KS） lesions by evaluating X- chromosome inactivation pattern in the human androgen receptor （HUMARA） gene. Methods Twenty-five paraffin- embedded tissue specimens were collected from female patients with KS （n = 15） or cutaneous hemangioma （n = 10）. DNA was extracted from these specimens, and digested with the methylation-sensitive restriction endonuclease Hpa ]]. PCR was performed to amplify the HUMARA gene, and the amplicons were separated on a 10% denaturing polyacrylamied gel and stained with ethidium bromide （EB）. The loss of heterozygosity of the HUMARA gene was defined as the presence of two DNA fragments before and one fragment after the endonuclease digestion. The clonality in KS lesions was assessed based on the above results. Results Among the 15 patients with KS, 13 （86.7%） were heterozygous for the HUMARA gene, of which, 92.31% （12/13） showed loss of heterozygosity of the HUMARA gene on X-chromosome, suggesting a monoclonal origin. Of the 10 patients with hemangioma, 9 were heterozygous for the HUMARA gene, and only one lost heterozygosity of the HUMARA gene. The heterozygosity rate for HUMARA gene was significantly different between the patients with KS and hemangioma （P 〈 0.01）. No statistical difference was observed in the clonality status of KS between patients of different nationality, at different stages, or between patients with and without complicated human immunodeficiency virus （HIV） infection （all P 〉 0.05）. Conclusion KS is monoclonal in origin. [Key words] Sarcoma, Kaposi; X Chromosome inactivation; Androgen receptor gene; Clonality analysis
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2014年第3期160-162,共3页
Chinese Journal of Dermatology
基金
国家自然科学基金（81260311）
国家临床重点专科建设项目
关键词
肉瘤
卡波西
X染色体失活
雄激素受体基因
克隆性分析
Sarcoma, Kaposi
X Chromosome inactivation
Androgen receptor gene
Clonality analysis
