肾上腺脑白质营养不良 (AL D)为性连锁隐性遗传病 ,基因定位于 Xq2 8,其编码的蛋白质称为 AL DP。目前国内外已发现多种 AL D基因突变形式 ,其中以错义突变及义码突变最为常见。本文就其近几年分子生物学进展进行综述 Adrenal leukodystrophy (AL D) is a sex-linked recessive disorder characterized by a gene that locates at Xq2 8 and encodes a protein called AL DP. At present, a variety of ALD gene mutations have been found both at home and abroad, of which missense mutation and sense mutation are the most common. This article reviews the progress of molecular biology in recent years