Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction
| Autor: | Dong-Mei Chen, Shi Ma, Xiang-Lan Tang, Ji-Yun Yang, Zheng-Lin Yang, Peng Lyu |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Chinese Medical Journal, Vol 133, Iss 10, Pp 1175-1181 (2020) |
| Druh dokumentu: | article |
| ISSN: | 0366-6999 2542-5641 00000000 |
| DOI: | 10.1097/CM9.0000000000000768 |
| Popis: | Abstract. Background:. Patients carrying the HongKongαα (HKαα) allele and -α3.7/αααanti-4.2 could be misdiagnosed as -α3.7/αα by the current conventional thalassemia detection methods, leading to inaccurate genetic counseling and an incorrect prenatal diagnosis. This study was aimed to accurately analyze the genotypes of HKαα carriers and -α3.7/αααanti-4.2. Methods:. Samples were collected in our hospital from July 2017 to October 2019. Twenty-four common types of Chinese thalassemia were screened by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB). Anti-4.2 multiplex-PCR was used to confirm carriers of the αααanti-4.2 duplication with -α3.7 deletion. Two-round nested PCR and multiplex ligation-dependent probe amplification (MLPA) were applied to accurately identify and confirm their genotypes. For data analysis, we used descriptive statistics and Fisher's exact tests. Results:. Two thousand five hundred and forty-four cases were identified as thalassemia in 5488 peripheral blood samples. The results showed that α, β, and αβ compound thalassemia were identified in 1190 (46.78%), 1286 (50.55%), and 68 (2.67%) cases, respectively. A total of 227 samples from thalassemia patients were identified as -α3.7/αα by Gap-PCR, and the genotypes of two samples were uncertain. There was a difference between Gap-PCR and combined groups (Gap-PCR combined with nested PCR and MLPA) in detecting HKαα (P |
| Databáze: | Directory of Open Access Journals |
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