人类类固醇硫酸酯酶基因位点的NcoI限制性片段长度多态性。
An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus.
作者信息
van Zandvoort P M, van Bennekom C A, Ropers H H, van Oost B A
机构信息
Department of Human Genetics, University Hospital of Nijmegen, The Netherlands.
出版信息
Hum Genet. 1990 Apr;84(5):489-90. doi: 10.1007/BF00195828.
PMID:1969847
Abstract
The DNA diagnosis of X-linked recessive ichthyosis vulgaris (incidence: approx. 1 in 5000 males) can be complicated by the absence of restriction fragment length polymorphisms (RFLPs) in the STS (steroid sulphatase) gene. An RFLP sequence in NcoI-digested genomic DNA is reported, which it is hoped may prove helpful in diagnosis.
摘要
X连锁隐性寻常型鱼鳞病（发病率：约为5000名男性中有1例）的DNA诊断可能会因类固醇硫酸酯酶（STS）基因中缺乏限制性片段长度多态性（RFLP）而变得复杂。据报道，在经NcoI消化的基因组DNA中存在一种RFLP序列，希望它能有助于诊断。
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