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首页> 外文期刊>International journal of immunogenetics >Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.
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Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.

机译：通过长PCR直接测序鉴定12例中国X连锁球蛋白血症的布鲁顿酪氨酸激酶突变。

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摘要

X-linked agammaglobulinaemia (XLA) is an immunodeficiency caused by Bruton tyrosine kinase (BTK) gene mutations. The disease is characterized by recurrent bacterial infections and profound hypogammaglobulinemia with marked reduction or lack of mature B-cells in the peripheral blood. Molecular characterization of BTK gene provides an opportunity for definitive diagnosis of XLA patients, especially for those with atypical phenotype resulting in a milder or late-onset form of the disease. The diagnosis allows accurate carrier detection with subsequent genetic counselling and prenatal diagnosis. In this study, long polymerase chain reaction (PCR)-direct sequencing analysis of the BTK gene in 12 unrelated Chinese XLA patients had been performed. Eight recurrent mutations and four novel mutations were identified. This is the first report of Chinese cases from three different East Asia regions together, including Hong Kong, Singapore and mainland China. Future clinical and genetic information from the undiagnosed Chinese XLA patients may provide insight into the genotype-phenotype correlations of BTK gene.
机译：X连锁血球蛋白血症（XLA）是由Bruton酪氨酸激酶（BTK）基因突变引起的免疫缺陷。该病的特征是细菌反复感染和严重的低聚球蛋白血症，外周血中明显的成熟B细胞减少或缺乏。 BTK基因的分子特征为XLA患者的确诊提供了机会，特别是对于那些具有非典型表型导致较轻或较晚发作的XLA患者。该诊断可以进行准确的携带者检测，随后进行遗传咨询和产前诊断。在这项研究中，对12例中国XLA无关患者的BTK基因进行了长聚合酶链反应（PCR）直接测序分析。确定了八个复发突变和四个新突变。这是来自三个不同东亚地区（包括香港，新加坡和中国大陆）的中国病例的第一份报告。来自未确诊的中国XLA患者的未来临床和遗传信息可能会提供有关BTK基因的基因型与表型相关性的见解。

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