Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy

作者：Huang LH; Zheng DZ; Zeng J; Xin N; Lan FH^*

来源：Progress in Biochemistry and Biophysics, 2004, 31(6): 572-575.

• adrenoleukodystrophy
• molecular diagnosis
• ABCD1 gene
• pseudogene
• amplification refractory
• mutation system

The molecular diagnosis for X-linked adrenoleukodystrophy (ALD) using mutational analysis at genomic DNA level is important. However, some ABCD1 gene mutations were difficult to detect by conventional methods, such as PCR-RFLP and the direct DNA sequencing of PCR product, because of the interference of the pseudogenes. To avoid the interference, genomic DNA from the family members with an adrenoleukodystrophy gene mutation (R617G mutation) was analyzed by amplification refractory mutation system. The results indicated that amplification refractory mutation system is one of the effective methods for avoiding the interference of the pseudogenes in detecting ABCD1 gene mutations.

• 出版日期2004-6
• 单位中国人民解放军南京军区福州总医院