Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamai K, Sawamura D, Hashimoto I
Department of Dermatology, Hirosaki University School of Medicine, Japan.
Acta Derm Venereol. 1995 Sep;75(5):340-2. doi: 10.2340/0001555575340342.
We have studied the steroid sulfatase (STS) gene in three Japanese families with X-linked ichthyosis (XLI), using polymerase chain reaction (PCR). PCR was performed using three sets of intraexonic primers covering exons 1, 5 and 10. In affected individuals from two of the families, DNA was not amplified in any of the three exons, suggesting that XLI in these families was due to the complete deletion of the STS gene. In affected individuals in the remaining family, DNA was amplified in predicted sizes in exons 1 and 5, but not in exon 10, suggesting that XLI in this family was due to partial deletion of the STS gene including exon 10. These results suggested that STS gene deficiency is heterogeneous in Japanese families with XLI. PCR is useful for the rapid diagnosis of XLI, the differentiation of XLI from ichthyosis vulgaris, and genetic counseling of XLI families. The PCR method was not applicable for carrier detection.
我们使用聚合酶链反应（PCR）对三个患有X连锁鱼鳞病（XLI）的日本家庭中的类固醇硫酸酯酶（STS）基因进行了研究。使用覆盖外显子1、5和10的三组外显子内引物进行PCR。在其中两个家庭的患病个体中，三个外显子中的任何一个都未扩增出DNA，这表明这些家庭中的XLI是由于STS基因的完全缺失所致。在其余家庭的患病个体中，外显子1和5扩增出了预测大小的DNA，但外显子10未扩增出，这表明该家庭中的XLI是由于包括外显子10在内的STS基因部分缺失所致。这些结果表明，在患有XLI的日本家庭中，STS基因缺陷具有异质性。PCR对于XLI的快速诊断、XLI与寻常型鱼鳞病的鉴别以及XLI家庭的遗传咨询很有用。PCR方法不适用于携带者检测。
