ABO discrepancy due to the para-Bombay phenotype: a case report
In this study, we aimed to determine and analyze the genetic differences of the FUT1 and FUT2 genes within an individual exhibiting the Para-Bombay phenotype. Standard serological tests were conducted to analyze the ABO phenotype. The amplification of FUT1 and FUT2 genes was conducted by polymer...
| Hoofdauteurs: | , , |
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| Formaat: | Artikel |
| Taal: | English |
| Gepubliceerd in: |
MRE Press
2023-11-01
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| Reeks: | Journal of Men's Health |
| Onderwerpen: | |
| Online toegang: | https://oss.jomh.org/files/article/20231130-154/pdf/JOMH2023090601.pdf |
| _version_ | 1827393924198563840 |
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| author | Ying Lin Rongcang Chen Xingzhong Hu |
| author_facet | Ying Lin Rongcang Chen Xingzhong Hu |
| author_sort | Ying Lin |
| collection | DOAJ |
| description | In this study, we aimed to determine and analyze the genetic differences of the
FUT1 and FUT2 genes within an individual exhibiting the
Para-Bombay phenotype. Standard serological tests were conducted to analyze the
ABO phenotype. The amplification of FUT1 and FUT2 genes was
conducted by polymerase chain reaction and amplicons were sequenced. The
determination of the ABO genotype was conducted by sequencing exons 1 to
7 of the ABO gene. The Lewis phenotype was defined as Le(a−b+); Despite
this, red blood cells (RBCs) did not show signs of A, B and H antigens using the
serological method utilized in this study. However, Analyses of sequencing and
cloning demonstrated the existence of a FUT1 mutation
at position c.658C>T and an inactive allele FUT1*01N.06
(c.551_552delAG). Genetic testing for ABO blood types was subsequently
determined to be ABO*B.01/ABO*B.01 (c.297A>G; c.526C>G; c.657C>T;
c.703G>A; c.796C>A; c.803G>C; c.930G>A). Heterozygosity for indel and
missense mutation within the coding region of FUT1 are likely
to be responsible for development of the Para-Bombay phenotype. |
| first_indexed | 2024-03-08T17:59:28Z |
| format | Article |
| id | doaj.art-a8dab3faedc94a63861cc4206ccb51f3 |
| institution | Directory Open Access Journal |
| issn | 1875-6867 1875-6859 |
| language | English |
| last_indexed | 2024-03-08T17:59:28Z |
| publishDate | 2023-11-01 |
| publisher | MRE Press |
| record_format | Article |
| series | Journal of Men's Health |
| spelling | doaj.art-a8dab3faedc94a63861cc4206ccb51f32024-01-02T03:06:25ZengMRE PressJournal of Men's Health1875-68671875-68592023-11-01191111611910.22514/jomh.2023.123S1875-6867(23)00092-1ABO discrepancy due to the para-Bombay phenotype: a case reportYing Lin0Rongcang Chen1Xingzhong Hu2Department of Blood Transfusion, Wenzhou Central Hospital, Dingli Clinical School of Wenzhou Medical University, 325000 Wenzhou, Zhejiang, ChinaInstitute of Transfusion Medicine, Center Blood Station of Wenzhou, 325000 Wenzhou, Zhejiang, ChinaDepartment of Blood Transfusion, Wenzhou Central Hospital, Dingli Clinical School of Wenzhou Medical University, 325000 Wenzhou, Zhejiang, ChinaIn this study, we aimed to determine and analyze the genetic differences of the FUT1 and FUT2 genes within an individual exhibiting the Para-Bombay phenotype. Standard serological tests were conducted to analyze the ABO phenotype. The amplification of FUT1 and FUT2 genes was conducted by polymerase chain reaction and amplicons were sequenced. The determination of the ABO genotype was conducted by sequencing exons 1 to 7 of the ABO gene. The Lewis phenotype was defined as Le(a−b+); Despite this, red blood cells (RBCs) did not show signs of A, B and H antigens using the serological method utilized in this study. However, Analyses of sequencing and cloning demonstrated the existence of a FUT1 mutation at position c.658C>T and an inactive allele FUT1*01N.06 (c.551_552delAG). Genetic testing for ABO blood types was subsequently determined to be ABO*B.01/ABO*B.01 (c.297A>G; c.526C>G; c.657C>T; c.703G>A; c.796C>A; c.803G>C; c.930G>A). Heterozygosity for indel and missense mutation within the coding region of FUT1 are likely to be responsible for development of the Para-Bombay phenotype.https://oss.jomh.org/files/article/20231130-154/pdf/JOMH2023090601.pdfabo discrepancypara-bombayfut1fut2 |
| spellingShingle | Ying Lin Rongcang Chen Xingzhong Hu ABO discrepancy due to the para-Bombay phenotype: a case report Journal of Men's Health abo discrepancy para-bombay fut1 fut2 |
| title | ABO discrepancy due to the para-Bombay phenotype: a case report |
| title_full | ABO discrepancy due to the para-Bombay phenotype: a case report |
| title_fullStr | ABO discrepancy due to the para-Bombay phenotype: a case report |
| title_full_unstemmed | ABO discrepancy due to the para-Bombay phenotype: a case report |
| title_short | ABO discrepancy due to the para-Bombay phenotype: a case report |
| title_sort | abo discrepancy due to the para bombay phenotype a case report |
| topic | abo discrepancy para-bombay fut1 fut2 |
| url | https://oss.jomh.org/files/article/20231130-154/pdf/JOMH2023090601.pdf |
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