Clinical Manifestations And Genetic Analysis Of 5 Patients With X-Linked Agammaglobulinemia

Objective:By analyzing the clinical manifestations and Bruton’s tyrosine kinase (BTK) genetic variations of the X-linked agammaglobulinemia(XLA) patients, we try to improve the understanding of XLA among clinical physicians.Methods:Based on clinical Findings,5suspected XLA patients from 5 different faniilies in main China were included in the study. To confirm the BTK mutations in these patients,cDNA and DNA were prepared by a reverse transcriptase PCR reaction/PCR reaction from peripheral venous blood,respectively.The cDNA amplified products were directly sequenced by cycle sequencing. Then the detected mutations were confirmed on genomic DNA templates.Results:4 of the 5 cases were found BTK gene mutation and one was normal BTK gene.Three mutations located at BTK coding region and the other one located at splice site.All of the four BTK gene mutations,includingc.1892-1893AC、c.1580-1583delGTTT、c.652A>T、 IVS10-1 G>A, were known muations in BTKbase.The four mothers of the XLA patients were analyzed and three of them were carriers.Conclusion:The results of the study support the standpoint that molecular genetic testing is an important tool for definitive and early diagnosis of XLA and can offer an accurate carrier detection and genetic consultation.