دورية أكاديمية
Analysis of rare thalassemia genetic variants based on third-generation sequencing
| العنوان: | Analysis of rare thalassemia genetic variants based on third-generation sequencing |
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| المؤلفون: | Cuiting Peng, Haixia Zhang, Jun Ren, Han Chen, Ze Du, Tong Zhao, Aiping Mao, Ruofan Xu, Yulin Lu, He Wang, Xinlian Chen, Shanling Liu |
| المصدر: | Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022) |
| بيانات النشر: | Nature Portfolio, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine LCC:Science |
| مصطلحات موضوعية: | Medicine, Science |
| الوصف: | Abstract Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is still challenging. Long-range PCR and long-molecule sequencing on the PacBio Sequel II platform utilized in this study could cover the entire HBA1, HBA2 and HBB genes, enabling the diagnosis of most of the common and rare types of thalassemia variants. In this study, 100 cases of suspected thalassemia were subjected to traditional thalassemia testing and third-generation sequencing for thalassemia genetic diagnosis. Compared with traditional diagnostic methods, an additional 10 cases of rare clinically significant variants, including 3 cases of structure variants and 7 cases of single nucleotide variations (SNVs) were identified, of which a case with − α3.7 subtype III (− α3.7III) was first identified and validated in the Chinese population. Other rare variants of 11.1 kb deletions (− 11.1/αα), triplicate α-globin genes (aaa3.7/αα) and rare SNVs have also been thoroughly detected. The results showed that rare thalassemia variants are not rare but have been misdiagnosed by conventional methods. The results further validated third-generation sequencing as a promising method for rare thalassemia genetic testing. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2045-2322 |
| العلاقة: | https://doaj.org/toc/2045-2322Test |
| DOI: | 10.1038/s41598-022-14038-8 |
| الوصول الحر: | https://doaj.org/article/c43ac6845daa4781bdaad4ccd8bb067eTest |
| رقم الانضمام: | edsdoj.43ac6845daa4781bdaad4ccd8bb067e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20452322 |
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| DOI: | 10.1038/s41598-022-14038-8 |