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[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+Show Affiliations

Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China. Email: jianshengxie2000@aliyun.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

chi

PubMed ID

26418992

Citation

Hao, Ying, et al. "[Application of Multiplex Ligation-dependent Probe Amplification Technique in Prenatal Diagnosis of Α-thalassemia]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 32, no. 5, 2015, pp. 683-6.
Hao Y, Xu X, Xu Z, et al. [Application of multiplex ligation-dependent probe amplification technique in prenatal diagnosis of α-thalassemia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32(5):683-6.
Hao, Y., Xu, X., Xu, Z., Jiang, N., Wu, W., Jin, Q., ... Xie, J. (2015). [Application of multiplex ligation-dependent probe amplification technique in prenatal diagnosis of α-thalassemia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 32(5), pp. 683-6. doi:10.3760/cma.j.issn.1003-9406.2015.05.016.
Hao Y, et al. [Application of Multiplex Ligation-dependent Probe Amplification Technique in Prenatal Diagnosis of Α-thalassemia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32(5):683-6. PubMed PMID: 26418992.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Application of multiplex ligation-dependent probe amplification technique in prenatal diagnosis of α-thalassemia]. AU - Hao,Ying, AU - Xu,Xiaoxin, AU - Xu,Zhiyong, AU - Jiang,Niping, AU - Wu,Weiqing, AU - Jin,Qing, AU - Yin,Shanshan, AU - Cai,Yun, AU - Xie,Jiansheng, PY - 2015/9/30/entrez PY - 2015/9/30/pubmed PY - 2015/12/23/medline SP - 683 EP - 6 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 32 IS - 5 N2 - 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. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/26418992/[Application_of_multiplex_ligation_dependent_probe_amplification_technique_in_prenatal_diagnosis_of_α_thalassemia]_ L2 - http://www.diseaseinfosearch.org/result/333 DB - PRIME DP - Unbound Medicine ER -