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目的通过对X连锁无丙种球蛋白血症(XLA)患儿Bruton’s酪氨酸激酶(BTK)基因变异和临床特征的分析,提高临床医师对XLA的认识。方法收集2008年2月至2008年12月在我院住院的10例XLA患儿外周静脉血,采用RT-PCR方法扩增BTK cDNA,PCR产物直接双向测序。突变结果经DNA相应外显子部位扩增、测序进一步证实。结果10例XLA患儿中7例患儿发现有BTK基因突变。6例位于编码区,1例位于内含子区。突变类型包括错义突变3例,无义突变1例,缺失2例和内含子剪接位点突变1例。其中5例(F583L,135Nfs177X,R123X,C502Y,IVS9+2T>C)为首次报道的新型突变。进行基因分析的6例XLA患儿母亲均为携带者。结论BTK基因分析有助于XLA患儿的进一步明确诊断,而且有利于发现携带者和进行遗传咨询。
OBJECTIVE: To improve clinicians’ understanding of XLA by analyzing the mutation and clinical features of Bruton’s tyrosine kinase (BTK) gene in children with X-linked non-IgA. Methods Peripheral venous blood was collected from 10 XLA children hospitalized in our hospital from February 2008 to December 2008. The BTK cDNA was amplified by RT-PCR. The PCR products were directly bi-directionally sequenced. Mutations were amplified by DNA corresponding exon sites and further confirmed by sequencing. Results The mutation of BTK gene was detected in 7 of 10 children with XLA. Six cases were in the coding region and one was in the intron region. Mutation types include missense mutation in 3 cases, nonsense mutation in 1 case, deletion in 2 cases and intron splice site mutation in 1 case. Five of them (F583L, 135Nfs177X, R123X, C502Y, IVS9 + 2T> C) were the first reported novel mutations. 6 cases of genetically modified XLA children were mothers are carriers. Conclusion The BTK gene analysis can help further confirm the diagnosis of XLA in children, and it is helpful to discover carriers and carry out genetic counseling.