Okano M, Kitano Y, Nakamura T, Matsuzawa Y
Br J Dermatol. 1985 Dec;113(6):645-9. doi: 10.1111/j.1365-2133.1985.tb02399.x.
Steroid sulphatase activity in peripheral blood lymphocytes was assayed in all available members of three families in which cases of X-linked ichthyosis were frequently seen. Lymphocytes from all the patients with this disease lacked steroid sulphatase activity and some female members who were probably heterozygotes, showed significantly lower enzyme activity compared with other healthy family members and normal controls. This suggest that females heterozygous for X-linked ichthyosis in these families could be traced enzymatically. Three childless females in these families were found to be possible heterozygotes in view of their lower enzyme levels. It was found that polyacrylamide gel electrophoretic mobility of serum low-density lipoproteins was increased in X-linked ichthyosis patients but was not changed in the probable heterozygotes. The detection of individuals heterozygous for X-linked ichthyosis, for the purpose of precise genetic counselling, may be possible by measuring steroid sulphatase activity of peripheral blood lymphocytes.
在三个经常出现X连锁鱼鳞病病例的家族中，对所有可获得的家族成员进行了外周血淋巴细胞中类固醇硫酸酯酶活性的检测。所有患有这种疾病的患者的淋巴细胞都缺乏类固醇硫酸酯酶活性，一些可能是杂合子的女性成员与其他健康家族成员和正常对照组相比，酶活性显著降低。这表明这些家族中X连锁鱼鳞病的女性杂合子可以通过酶学方法进行追踪。鉴于这三个家族中三名无子女女性的酶水平较低，发现她们可能是杂合子。研究发现，X连锁鱼鳞病患者血清低密度脂蛋白的聚丙烯酰胺凝胶电泳迁移率增加，但可能的杂合子中没有变化。通过测量外周血淋巴细胞的类固醇硫酸酯酶活性，有可能检测出X连锁鱼鳞病的杂合子个体，以便进行精确的遗传咨询。
