Application of multiplex ligation-dependent probe amplification technique in prenatal diagnosis of α-thalassemia.
10.3760/cma.j.issn.1003-9406.2015.05.016
- Author:
Ying HAO
1
;
Xiaoxin XU
;
Zhiyong XU
;
Niping JIANG
;
Weiqing WU
;
Qing JIN
;
Shanshan YIN
;
Yun CAI
;
Jiansheng XIE
Author Information
1. Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China. Email: jianshengxie2000@aliyun.com.
- Publication Type:Journal Article
- MeSH:
Adult;
Female;
Humans;
Nucleic Acid Amplification Techniques;
methods;
Pregnancy;
Prenatal Diagnosis;
methods;
alpha-Thalassemia;
diagnosis;
genetics
- From:
Chinese Journal of Medical Genetics
2015;32(5):683-686
- CountryChina
- Language:Chinese
-
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.
