Hashimoto K, Azuma C, Kamiura S, Kimura T, Nobunaga T, Kanai T, Sawada M, Noguchi S, Saji F
Department of Obstetrics and Gynecology, Osaka University Medical School, Japan.
Gynecol Obstet Invest. 1995;40(3):204-8. doi: 10.1159/000292336.
To investigate the clonality of uterine leiomyomas, we developed a PCR-based method involving the differential inactivation of the X-chromosome-linked phosphoglycerokinase (PGK) gene. Small DNA samples of 22 leiomyomas from 9 Japanese patients, showing heterozygosity at the BstXI site of the PGK gene, were digested with the methylation-sensitive restriction enzyme HpaII. Only the inactive (methylated) PGK gene allele was selectively amplified by PCR followed by digestion with BstXI and electrophoresis. All leiomyoma samples consisted of a single type of inactive allele, even though alleles were detected that were specific to each nodule. The results indicated that all leiomyoma nodules were unicellular in origin but independently generated in the uterus.
为了研究子宫平滑肌瘤的克隆性，我们开发了一种基于聚合酶链反应（PCR）的方法，该方法涉及X染色体连锁磷酸甘油激酶（PGK）基因的差异失活。从9名日本患者的22个平滑肌瘤中获取的小DNA样本，在PGK基因的BstXI位点显示杂合性，用甲基化敏感限制性内切酶HpaII进行消化。通过PCR选择性扩增仅无活性（甲基化）的PGK基因等位基因，随后用BstXI消化并进行电泳。尽管检测到每个结节特有的等位基因，但所有平滑肌瘤样本均由单一类型的无活性等位基因组成。结果表明，所有平滑肌瘤结节均起源于单细胞，但在子宫内独立生成。
