CLONING OF A CDNA FOR STEROID SULFATASE - FREQUENT OCCURRENCE OF GENE DELETIONS IN PATIENTS WITH RECESSIVE X-CHROMOSOME-LINKED ICHTHYOSIS
CLONING OF A CDNA FOR STEROID SULFATASE - FREQUENT OCCURRENCE OF GENE DELETIONS IN PATIENTS WITH RECESSIVE X-CHROMOSOME-LINKED ICHTHYOSIS
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DOI：
10.1073/pnas.84.24.9248
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发表时间：
1987-12-01
影响因子：
11.1
通讯作者：
EPSTEIN, EH
中科院分区：
文献类型：
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作者：
BONIFAS, JM;MORLEY, BJ;EPSTEIN, EH
从人胎盘中分离到一个长2.4千碱基的人类固醇硫酸酯酶（steryl-sulfatase; steryl-sulfate sulfohydrolase, EC 3.1.6.2） cDNA。gt11 cDNA表达文库。该文库采用人胎盘纯化类固醇硫酸酯酶蛋白单特异性兔抗体进行筛选。cDNA与ecori消化的基因组DNA杂交表明，15个明显不相关的家族中有14个患者存在类固醇硫酸酯酶基因的严重缺失。一名患者的基因组DNA片段与正常人不同，这表明没有任何重大缺失导致他的类固醇硫酸酯酶活性下降。
A human steroid sulfatase (steryl-sulfatase; steryl-sulfate sulfohydrolase, EC 3.1.6.2) cDNA 2.4 kilobases long was isolated from a human placental .lambda.gt11 cDNA expression library. The library was screened with monospecific rabbit antibodies elicited by injection of steroid sulfatase protein purified from human placentas. Hybridization of the cDNA with EcoRI-digested genomic DNA indicated that patients from 14 of 15 apparently unrelated families have gross deletions of the gene for steroid sulfatase. One patient has genomic DNA fragments that were dientical to those from normal individuals, indicating the absence of any major deletions as the cause of his slack of steroid sulfatase enzyme activity.