摘要
目的通过对1例疑似肾上腺脑白质营养不良（ALD）患者及该家系其他成员进行ALD基因分析来明确诊断。方法从患者和家庭成员的外周血白细胞提取总RNA和基因组DNA；应用RT-PCR技术，首先对先证者cDNA的ABCD1基因编码区进行序列分析，寻找突变位点，再通过PCR和直接测序等方法进一步确证该突变位点；同时对该家系其他成员的相应基因组DNA进行ABCD1基因分析。结果先证者的ABCD1基因第656（G1、657（A）位碱基缺失．造成移码突变fsR89，可以确诊为ALD。该家系其他成员基因突变分析结果为：先证者表弟存在与先证者相同的突变，为ALD半合子；先证者的母亲、小姨、表妹均为ALD携带者；先证者姐姐为ABCD，正常基因型。结论在中国人ALD患者中发现了1个新的ABCD1基因突变（fsR89），ABCD1基因突变分析是诊断X—ALD最可靠的方法。
Objective To identify the ABCD1 gene mutation in a patient suspected with adrenoleukodystrophy （ALD） and perform its gene analysis in his family members to make a definite diagnosis. Methods Total RNA and genomic DNA were extracted from the leukocytes of peripheral blood in the proband and the family members. The ABCD1 coding region ofcDNA in the proband was amplified and sequenced. Mutational site in the A BCD1 gene of the proband was further confirmed by PCR and direct sequencing; at the same time, the mutation in the A BCD1 gene of the genomic DNA in the family members was analyzed by direct sequencing. Results Two bases deletions （656_657delGA） were identified and the corresponding mutation of fs R89 was detected in the A BCD1 gene of the proband, which could make the definite diagnosis of ALD that belonged to adrenomyeloneuropathy. The same gene mutation （ALD hemizygote） was noted in his cousin; his mother, younger sister of his mother and his younger female cousin were noted as the ALD caners. His older sister was noted as A BCD1 normal genotype. Conclusions A novel ABCD1 gene mutation （fs R89） was identified in Chinese patient with ALD. Molecular testing is an effective way in making diagnosis on patient suspected as having X-linked ALD.
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2010年第10期1045-1047,共3页
Chinese Journal of Neuromedicine
