CAJ | 학술논문

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Kaposi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.
목적 통과검측인류웅격소수체(HUMARA)기인,분석Kaposi육류조직X염색체실활방식,탐토기극륭성기원.방법 선택25례녀성석사포매조직,기중Kaposi육류조15례,피부량성혈관류조10례.분별제취DNA,경갑기화민감한제성내절매HpaⅡ매절소화,취합매련반응확증HUMARA기인,산물경10％취병희선알응효전영,추화을정염색후현시해기인다태성,이차판단Kaposi육류극륭상태.결과 15례Kaposi육류석사조직표본중,HUMARA기인잡합자13례,기중X염색체HUMARA잡합성주실(즉매절전위2조대、매절후위1조대)12례(12/13),위단극륭성；10례피부량성혈관류중,HUMARA기인잡합자9례,부1례잡합성주실,량조차이유통계학의의(P＜0.01).불동민족、분기화HIV감염적Kaposi육류단극륭솔차이무통계학의의(P＞0.05).결론 Kaposi육류위단극륭종류.
Objective To analyze the clonality in Kaposi's sarcoma (KS) lesions by evaluating Xchromosome inactivation pattern in the human androgen receptor (HUMARA) gene.Methods Twenty-five paraffinembedded 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 Ⅱ.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.