临床分子遗传诊断之现况与发展.pptVIP

Advances in Clinical Molecular Genetics 临床分子遗传诊断之现况与进展基因医学部苏怡宁医师 Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes. ??ABCD1 is an ATPase binding cassette protein in the same category of transporter proteins such as the CFTR and MDR proteins.肾上