Analysis of ABCD1 Gene Mutation in Patients with X-Linked Adrenoleukodystrophy / 实用儿科临床杂志

ABSTRACT

Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy(X-ALD) patients and 2 cases of their mothers.Methods Of 5 patients with X-ALD,10 exons and flanking intronic sequences of ABCD1 gene were amplified by polyme-rase chain reaction,and then sequenced directly.The outcomes were compared with normal ABCD1 sequencings to identify the mutation type and site.Thirty normal men were examined in the mean time as control for the confirmation of mutations and gene polymorphisms.Results Three patients showed ABCD1 gene mutations,1 had a point mutation in exon 6,Arg518Gly(CGG→GGG);2 patients showed the same novel mutation in exon 1 with 8 bases deletion(134del8).Four gene polymorphisms were identified in exon 7.They were Gly551X(GGC→GGT),Arg554His(CGT→CAT),Gln567Arg(CAA→CGA) and Val582Ile(GTC→ATC).ABCD1 gene mutation was not found in 2 mothers from 2 unrelated fa-milies with X-ALD.Conclusions Three cases of 5 were detected for ABCD1 gene mutations.Between them,the 134del8 mutation is a novel one.Four new gene polymorphisms were detected in exon 7 in normal Chinese people,which were Gly551X,Arg554His,Gln567Arg and Val582Ile.