Hao Ying, Xu Xiaoxin, Xu Zhiyong, Jiang Niping, Wu Weiqing, Jin Qing, Yin Shanshan, Cai Yun, Xie Jiansheng
Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):683-6. doi: 10.3760/cma.j.issn.1003-9406.2015.05.016.
OBJECTIVE To assess the application value of multiplex ligation-dependent probe amplification (MLPA) for the detection of gene deletion and prenatal diagnosis of α-thalassemia. METHODS MLPA was applied for 2 cases with α-thalassemia phenotype by whole blood cell counting and hemoglobin component detection but were ruled out by regular molecular diagnosis. Potential gene deletions and point mutations of α-thalassemia gene were detected with regular Gap-polymerase chain reaction (Gap-PCR) and reverse dot blotting (RDB) in 89 cases where one or both partners were carriers of α-thalassemia mutations. Meanwhile, MLPA was used for detecting α-globin gene deletion among the 89 samples. RESULTS For the 2 cases with α-thalassemia phenotype, no α globin gene deletion was detected by MLPA, but were subsequently confirmed as iron-deficiency anemia. The results of MLPA and Gap-PCR detection for the 88 cases were consistent, except for 1 fetal sample (chorionic villi) which could not be diagnosed by Gap-PCR and was confirmed to be - SEA/αα by MLPA. CONCLUSION MLPA can be applied to prenatal diagnosis of α-thalassemia as an effective supplement to Gap-PCR to reduce both misdiagnosis and missed diagnosis and improve the accuracy of prenatal diagnosis.
目的 评估多重连接依赖探针扩增技术（MLPA）在α地中海贫血基因缺失检测及产前诊断中的应用价值。方法 对2例有α地中海贫血表型但经全血细胞计数及血红蛋白成分检测后被常规分子诊断排除的病例应用MLPA技术。对89例夫妇一方或双方为α地中海贫血突变携带者的样本，采用常规缺口聚合酶链反应（Gap-PCR）及反向点杂交（RDB）技术检测α地中海贫血基因潜在的基因缺失及点突变，同时应用MLPA技术检测这89份样本中的α珠蛋白基因缺失情况。结果 2例有α地中海贫血表型的病例，MLPA未检测到α珠蛋白基因缺失，随后确诊为缺铁性贫血。88例样本的MLPA与Gap-PCR检测结果一致，1例胎儿样本（绒毛膜绒毛）Gap-PCR未能诊断，MLPA确诊为-SEA/αα。结论 MLPA可应用于α地中海贫血的产前诊断，作为Gap-PCR的有效补充，减少误诊和漏诊，提高产前诊断的准确性。
