贵州地区15例罕见β-地中海贫血携带者基因型及表型分析

doi:10.20047/j.issn1673-7210.2023.20.20

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Abstract Objective To identify the β-globin gene sequence of suspected cases of β-thalassemia (“β-thalassemia” for short”), the rare mutation site identified and the clinical phenotype were analyzed. Methods From January 2020 to March 2022, 20 suspected β-thalassemia carriers with hematologic phenotype but no related β-thalassemia gene test results were negative in Guizhou Provincial People’s Hospital. The full length of β-globin gene was amplified by PCR, The amplification products were sequenced bidirectionally by Sanger sequencing technique. The sequencing results were compared with the β-globin gene reference sequence to find out whether there were rare mutations. Results Among 20 Carriers with suspected β-thalassaemia, 15 were found to carry rare β-globin gene mutations, with a total of six mutation types: CD53(-T), CD5(-CT), CD8(-AA), -88(C＞A), Cap+22(G＞A) and -50(G＞A). Except for one case of -50(G＞A) carrier, the other 14 cases showed the clinical phenotype of β-thalassaemia minor. Conclusion Rare β-globin gene analysis in suspected carriers whose phenotypes were not consistent with their genotypes plays an important role in guiding β-thalassemia genetic counseling, prenatal diagnosis and reducing the birth of children with moderate and severe β-thalassaemia. The results of this study broaden the mutation spectrum of β-globin gene in Chinese population and Guizhou region.

Key words： β-thalassemia β-globin Sanger sequencing Point mutation Genotype Genetic phenotype

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	WU Peng1 XIE Dan2 WU Jiangfen2 WANG Lei2 LI Di3 HUANG Shengwen1

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WU Peng1 XIE Dan2 WU Jiangfen2 WANG Lei2 LI Di3 HUANG Shengwen1. Genotype and phenotype analysis of 15 rare β-thalassemia carriers in Guizhou Province[J]. 中国医药导报, 2023, 20(20): 97-100,138.

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https://www.yiyaodaobao.com.cn/EN/10.20047/j.issn1673-7210.2023.20.20 OR https://www.yiyaodaobao.com.cn/EN/Y2023/V20/I20/97

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