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专利概况
专利名称 Method for diagnosis of Wiskott-Aldrich syndrome
申请号 MDS20170137 申请日
公开(公告)号 MD1265Z 公开(公告)日 2017-12-27
申请(专利权)人 发明人 ANDRIEŞ LUCIA; SACARĂ VICTORIA; ŢURCAN DOINA; SCHIŢCO OLGA; PALII INNA; REVENCO NINELI; DUCA MARIA
专利来源 国家知识产权局 转化方式
摘要

The invention relates to medicine, in particular to medical genetics and can be used for diagnosis of patients with Wiskott-Aldrich syndrome.According to the invention, the method consists in isolating DNA using the Salting-out method and then implementing the conformational polymorphism analysis of single-stranded DNA, and if changes in the spatial conformation of single-stranded DNA are detected in the electrophoregram analysis, the determination of the nucleotide sequence of the WAS gene is further performed to determine the presence of the mutation and thus the diagnosis of Wiskott-Aldrich syndrome is established.

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