联用多重连接酶依赖探针扩增技术和基因测序技术检测地中海贫血基因缺陷

目的联用多重连接酶依赖探针扩增技术（MLPA）和基因测序技术,对地中海贫血病患者进行基因诊断。方法回顾性分析2011年10月-2013年2月来深圳市坪山新区人民医院就诊的地中海贫血病患者110例,先对他们进行基因检测,再对他们进行MLPA技术。结果通过基因检测,α1型地中海贫血病21例,α2型地中海贫血病27例,β型地中海贫血病62例。在62例β型地中海贫血病患者中,21例（33.9%）合并α型地中海贫血病双重杂合子,41例（66.1%）是41～42杂合基因型。通过MLPA检测,又发现16例（14.55%）α型地贫缺失型。结论发现运用基因测序技术能检测到大部分的地中海贫血病,再联用多重连接酶依赖探针扩增技术能更准确的检测到全部地中海贫血病,所以联用多重连接酶依赖探针扩增技术和基因测序技术是检测地中海贫血病有效的方法,为以后的临床检测提供了依据。

Combination of multiplex ligation-dependent probe amplification with gene sequencing technology for detecting gene defect of thalassemia

Objective To combine the technology of multiplex ligation-dependent probe amplification（MLPA） with gene sequencing technology for gene diagnosis of thalassemia patients.Methods 110 patients from October 2011 to February 2013 in Pingshan New District People′s Hospital of Shenzhen were analyzed retrospectively,these patients were done by gene sequencing and then given MLPA technology.Results The number of α1,α2 and β genotype of thalassemia was 21,27 and 62 respectively by gene sequencing.Among 62 patients with β genotype of thalassemia,21 patients（33.9%） was double heterozygote of α and β genotype,and 41 patients（66.1%） was double heterozygote of CD41-42 genotype.Another 16 patients（14.55%） with α genotype of thalassemia were found by MLPA measurement.Conclusion The technology of gene sequencing can detect subtotal thalassemia disease and can detect all thalassemia disease when combined with the technology of multiplex ligation-dependent probe amplification.Combination of these two technologies is the best way for detecting thalassemia disease,which takes evidence for clinical detecting.