Objective To detect the mutations in exon 6 of ABCD1 gene encoding adrenoleukodystrophy protein(ALDP) in Chinese X -linked adrenoleukodystrophy (ALD,MIM 300100) patie nts.

• 目的 检测肾上腺脑白质营养不良 (adrenoleukodystrophy,AL D) (MIM 3 0 0 10 0 )患者编码AL D蛋白的 ABCD1基因 [ATP-结合盒 (ATP-binding cassette,ABC)超家族中 D亚家族 1]突变。