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[The application of multiplex ligation-dependent probe amplification technology in diagnosis and prenatal diagnosis of α-thalassemia].
Zhonghua Xue Ye Xue Za Zhi 2013; 34(7):591-4ZX

Abstract

OBJECTIVE

To investigate the multiplex ligation-dependent probe amplification (MLPA) technology in the detection of gene deletion and prenatal diagnosis of α-thalassaemia.

METHODS

Phenotypes were analyzed by whole blood cell counting and hemoglobin component detection of peripheral blood samples from the subjects. The gene deletions and point mutations of α- thalassaemia were detected with regular gap-PCR and reverse dot blot (RDB) method. At last, the MLPA method was applied for detection of α-globin gene deletion. All the prenatal diagnosis samples were detected with both gap-PCR and MLPA method.

RESULTS

α-thalassaemia phenotype was found in 75 samples from 1256 (628 couples) peripheral blood samples for pre-pregnancy or prenatal thalassemia gene screening. Among them, 71 samples carrying α-gene mutations and consistent with phenotypes were detected by routine methods. In the other 3 samples with no α-gene mutations detected and 1 sample with HbH phenotype but genotype of ﹣α(4.2)/αα were analyzed by MLPA and found each one samples of whole α-globin gene cluster deletion, respectively. Seventeen high risk couples were screened. Among the 17 prenatal diagnosis samples, 2 villus samples contaminated by exogenous DNA were confirmed by MLPA method.

CONCLUSION

MLPA is an effective complement for α-thalassaemia gene deletion detection. The molecular diagnosis strategy and process of gap-PCR combined with MLPA for α- thalassaemia gene deletion detection can prevent the missing of gene deletion, and false-positive or false-negative misdiagnosis of α-thalassaemia in prenatal diagnosis.

Authors+Show Affiliations

Genetics and Prenatal Diagnosis Center of Shaoguan Maternal and Child Health Hospital, Guangdong 512026, China.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

chi

PubMed ID

23906452

Citation

Chen, Ya-jun, et al. "[The Application of Multiplex Ligation-dependent Probe Amplification Technology in Diagnosis and Prenatal Diagnosis of Α-thalassemia]." Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, vol. 34, no. 7, 2013, pp. 591-4.
Chen YJ, Yang XH, Zeng XQ, et al. [The application of multiplex ligation-dependent probe amplification technology in diagnosis and prenatal diagnosis of α-thalassemia]. Zhonghua Xue Ye Xue Za Zhi. 2013;34(7):591-4.
Chen, Y. J., Yang, X. H., Zeng, X. Q., & Qiao, L. L. (2013). [The application of multiplex ligation-dependent probe amplification technology in diagnosis and prenatal diagnosis of α-thalassemia]. Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 34(7), pp. 591-4. doi:10.3760/cma.j.issn.0253-2727.2013.07.007.
Chen YJ, et al. [The Application of Multiplex Ligation-dependent Probe Amplification Technology in Diagnosis and Prenatal Diagnosis of Α-thalassemia]. Zhonghua Xue Ye Xue Za Zhi. 2013;34(7):591-4. PubMed PMID: 23906452.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [The application of multiplex ligation-dependent probe amplification technology in diagnosis and prenatal diagnosis of α-thalassemia]. AU - Chen,Ya-jun, AU - Yang,Xue-huang, AU - Zeng,Xian-qi, AU - Qiao,Ling-li, PY - 2013/8/3/entrez PY - 2013/8/3/pubmed PY - 2015/2/20/medline SP - 591 EP - 4 JF - Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi JO - Zhonghua Xue Ye Xue Za Zhi VL - 34 IS - 7 N2 - OBJECTIVE: To investigate the multiplex ligation-dependent probe amplification (MLPA) technology in the detection of gene deletion and prenatal diagnosis of α-thalassaemia. METHODS: Phenotypes were analyzed by whole blood cell counting and hemoglobin component detection of peripheral blood samples from the subjects. The gene deletions and point mutations of α- thalassaemia were detected with regular gap-PCR and reverse dot blot (RDB) method. At last, the MLPA method was applied for detection of α-globin gene deletion. All the prenatal diagnosis samples were detected with both gap-PCR and MLPA method. RESULTS: α-thalassaemia phenotype was found in 75 samples from 1256 (628 couples) peripheral blood samples for pre-pregnancy or prenatal thalassemia gene screening. Among them, 71 samples carrying α-gene mutations and consistent with phenotypes were detected by routine methods. In the other 3 samples with no α-gene mutations detected and 1 sample with HbH phenotype but genotype of ﹣α(4.2)/αα were analyzed by MLPA and found each one samples of whole α-globin gene cluster deletion, respectively. Seventeen high risk couples were screened. Among the 17 prenatal diagnosis samples, 2 villus samples contaminated by exogenous DNA were confirmed by MLPA method. CONCLUSION: MLPA is an effective complement for α-thalassaemia gene deletion detection. The molecular diagnosis strategy and process of gap-PCR combined with MLPA for α- thalassaemia gene deletion detection can prevent the missing of gene deletion, and false-positive or false-negative misdiagnosis of α-thalassaemia in prenatal diagnosis. SN - 0253-2727 UR - https://www.unboundmedicine.com/medline/citation/23906452/[The_application_of_multiplex_ligation_dependent_probe_amplification_technology_in_diagnosis_and_prenatal_diagnosis_of_α_thalassemia]_ L2 - https://dx.doi.org/10.3760/cma.j.issn.0253-2727.2013.07.007 DB - PRIME DP - Unbound Medicine ER -