摘要
目的 鉴定 1例肾上腺脑白质营养不良 (ALD)患者及其家庭成员的ALD基因突变类型。方法 采用RT PCR技术 ,分 4个片段扩增患者和 1例对照个体的ALD基因编码序列 ,用末端终止法测定PCR产物序列 ,用限制性酶切分析验证测序结果。结果 患者ALD基因第 2 80密码子存在 1个未见报道的错义突变 ,即CGC→CTC ,该突变使原来的精氨酸被亮氨酸替换 ,并使相应部位的 1个Hin 6I酶切位点消失。对照个体不存在此突变。在患者家庭成员中检测出 2个杂合子。结论 在一个中国肾上腺脑白质营养不良家系发现 1个新的ALD基因突变 ,即R2
Objective To identify the mutational genotype of a Chinese patient with X linked adrenoleukodystrophy(ALD). Methods Four fragments covering the entire coding sequence of the ALD gene of the patient and a control subject were amplified by RT PCR. The PCR products were directly sequenced by chain termination method. The result of sequencing was confirmed by restriction enzyme digestion of PCR products from genomic DNA. Results A novel missense mutation,CGC→CTC, was found at codon 280 of ALD gene from the patient, resulting in the replacement of arginine by leucine. This mutation abolished an Hin 6I cut site in the gene. Two heterozygotes were identified in the family members of the patient. Conclusion A new mutation, R280L mutation, was identified in the ALD gene of a Chinese patitent with ALD.
出处
《上海医学检验杂志》
北大核心
2002年第2期69-72,共4页
Shanghai Journal of Medical Laboratory Sciences
