Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in southwestern China
作者单位：Liuzhou Maternal and Child Health Care Hospital
会议名称：《中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会》
会议日期：2016年
学科分类：100208[医学-临床检验诊断学] 1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
摘 要：Objective To identify the rare alpha-thalassemia in southwestern China. Method 25 individuals suspected of having alpha-globin alteration(s), in which no or doubtful mut ations had been found using conventional methods, were screened by reliable multiplex ligation-d ependent probe amplification(MLPA) assay. Result In 19 out of 25 patient samples, we found 15 different alpha-thalassaemia deletions, four of which were not previously described. One novel deletions leaving the alpha-globin gene cluster intact were found to cause a complete downregulation of the downstream alpha-genes. These de letions, which are not easily detected by conventional techniques, may have clinical implications d uring pregnancy ranging from mild to life threatening microcytic haemolytic anaemia in neonates. Conclusion The MLPA assay is a rapid and sensitive method for high resolution analysis of the g lobin gene clusters in the high-incidence area of thalassemia, to allow characterizing previously u nsolved α-thalassemia genotypes.