新的肾上腺脑白质营养不良基因突变1例的鉴定

Identification of a novel mutation in the ALD gene of a Chinese patient with adrenoleukodystrophy

目的 :对 1例肾上腺脑白质营养不良 (ALD)患者及其家系成员的ALD基因的突变类型进行鉴定 .方法 :以外周血RNA为模板 ,采用长链RT PCR技术 ,分 4个片段扩增ALD基因mRNA的编码序列 ,对 4个PCR产物进行直接测序 ,筛查整个基因编码区 .通过限制性内切酶酶切分析患者及其家系成员基因组ALD基因片段 ,以进一步确证所发现的基因突变 .结果 :位于患者ALD基因第 6外显子的第 5 0 8位密码子存在一个新的错义突变CCC→CTC (P5 0 8L) ,患者母亲为突变携带者 ,患者父亲和妹妹不存在此突变 .结论 :发现中国ALD患者一个新的ALD基因突变 ,即P5 0

AIM: To identify the mutational genotype in a Chinese family with adrenoleukodystrophy (ALD). METHODS: Total RNA was isolated from the peripheral blood of the patient and ALD mRNA was amplified by long RT PCR. The PCR products were subjected to direct sequencing with ABIs BigDye kit on type 377 sequencer. A 330 bp fragment spanning the mutation was amplified from the genomic DNA of the patient and his family members and digested with the restriction enzyme BspLI. RESULTS: C was changed to T at base 1523, replacing the proline at codon 508 with leucine. The mutation was inherited from his mother, which was heterozygous for the mutation. His father and sister were free from this mutation. CONCLUSION: A novel mutation, the P508L mutation, is found in the ALD gene of a Chinese patient with ALD.