title: [Application of multiplex ligation-dependent probe amplification technique in prenatal diagnosis of α-thalassemia].
abstract: 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.
authors.affiliation: Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China. Email: jianshengxie2000@aliyun.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Hao
authors.forename: Xiaoxin
authors.initials: X
authors.lastname: Xu
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Xu
authors.forename: Niping
authors.initials: N
authors.lastname: Jiang
authors.forename: Weiqing
authors.initials: W
authors.lastname: Wu
authors.forename: Qing
authors.initials: Q
authors.lastname: Jin
authors.forename: Shanshan
authors.initials: S
authors.lastname: Yin
authors.forename: Yun
authors.initials: Y
authors.lastname: Cai
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics