IDENTIFICATION OF A 2 BASE-PAIR DELETION IN 5 UNRELATED FAMILIES WITH ADRENOLEUKODYSTROPHY - A POSSIBLE HOT-SPOT FOR MUTATIONS
IDENTIFICATION OF A 2 BASE-PAIR DELETION IN 5 UNRELATED FAMILIES WITH ADRENOLEUKODYSTROPHY - A POSSIBLE HOT-SPOT FOR MUTATIONS
复制标题
DOI：
10.1006/bbrc.1994.1979
复制
发表时间：
1994-07-29
影响因子：
3.1
通讯作者：
BOLHUIS, PA
中科院分区：
文献类型：
--
作者：
KEMP, S;LIGTENBERG, MJL;BOLHUIS, PA
x连锁肾上腺脑白质营养不良症（ALD）的基因最近被确定。在约7%的患者中发现数千个碱基的基因内缺失。点突变，被认为是非常异质的，到目前为止只在两个病人身上发现。我们在ALD基因第5外显子的1801-1802位置发现了两个碱基对缺失，这两个碱基对位于atp结合的两个共识动机之前，在40个不相关的ALD种类中有5个发现了这种微缺失，表明该位置是突变的热点。在儿童脑性ALD （CCALD）患者和肾上腺髓神经病变（AMN）患者中均观察到该突变。(C) 1994学术出版社，Inc.
The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding, This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN). (C) 1994 Academic Press, Inc.