一家系二例Menkes病患儿ATP7A基因研究

Study of ATP7A gene in a Chinese family with Menkes disease

目的 分析一家系中2例Menkes病（MD）患儿及家系成员的ATP7A基因突变情况及遗传特征. 方法 采集2例MD患儿及家系成员、正常对照儿童的外周静脉血,提取基因组DNA,PCR法扩增ATP7A基因的23个外显子及其与内含子的连接区,纯化后测序,检测基因突变情况,异常者采用荧光定量PCR进行验证. 结果 2例患儿ATP7A基因存在第2～12外显子大片段缺失,患儿外祖母、母亲、姨母的第2～12外显子缺失,为表型正常的携带者. 结论 患者如出现ATP7A基因第2～12外显子大片段缺失则可以明确诊断为Menkes病.

Objective To analyze the A TP7A gene mutations in 2 related Chinese patients with Menkes disease （MD） and other members of the family and their hereditary features. Methods Two patients were clinically diagnosed as having MD. All 23 exons and exon-intron boundaries of ATP7A gene were polymerase chain reaction （PCR）-amplified and directly sequenced for genomic DNA extracted from the peripheral blood of both 2 patients and other members of the family; healthy controls were employed too. The mutations were proved by fluorescence quantitative PCR. Results Gross deletions from exon 2-12 were found in these 2 patients,respectively; their mothers,grandmother and aunt with normal phenotype carried those heterozygous mutations in the same site of A TP7A gene.Conclusions The 2 patients with MD are identified by gene and gross deletions from exon 2-12 are reported.