The novel missense variant c.350G>T on the ABO*B.01 allele associated with a Bel phenotype
Tae Yeul Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Search for more papers by this authorHongBi Yu
Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea
Search for more papers by this authorYoo Na Chung
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Search for more papers by this authorJa-Hyun Jang
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Search for more papers by this authorCorresponding Author
Duck Cho
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea
Correspondence
Duck Cho, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, South Korea.
Email: [email protected]
Search for more papers by this authorTae Yeul Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Search for more papers by this authorHongBi Yu
Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea
Search for more papers by this authorYoo Na Chung
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Search for more papers by this authorJa-Hyun Jang
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Search for more papers by this authorCorresponding Author
Duck Cho
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea
Correspondence
Duck Cho, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, South Korea.
Email: [email protected]
Search for more papers by this authorCONFLICT OF INTEREST
The authors declare no conflicts of interest.
Supporting Information
| Filename | Description |
|---|---|
| trf16033-sup-0001-SupinfoS1.docWord document, 33 KB | Appendix S1. The method for polymerase chain reaction amplification and direct sequencing of the ABO +5.8-kb site. |
| trf16033-sup-0002-FigureS1.tifTIFF image, 536.3 KB | Figure S1. Haplotype phasing of the novel missense variant c.350G>T (p.Gly117Val) by manual inspection using the Integrative Genomics Viewer. The c.350G>T variant is in cis with the c.297A>G variant (ABO*B.01) and in trans with the c.261delG variant (ABO*O.01.01). * c.261 has no genomic coordinate on hg19, as the O allele containing c.261delG is used as reference on hg19. For this reason, the A or B allele (c.261G) appears to have an insertion (chr9:136132908_136132909insC), while the O allele (c.261delG) appears to have no variant. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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