Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG
BACKGROUND AND OBJECTIVES: Discrepancy between forward and reverse ABO grouping could be due to several reasons including genetic mutations of the alleles encoding group specific transferase. The healthy donors found with weak A antigen were investigated to ascertain the allele responsible for varia...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-01-01
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| Series: | Asian Journal of Transfusion Science |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ajts.ajts_235_23 |
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| _version_ | 1832593734876790784 |
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| author | Sanmukh Ratilal Joshi Glenda Millard Mayuri Vekariya Priya Radadiya Manisha Rajapara Hiren Dhanani Gaurav Shastri Prabhat Sharma Brett Wilson Yew-Wah Liew |
| author_facet | Sanmukh Ratilal Joshi Glenda Millard Mayuri Vekariya Priya Radadiya Manisha Rajapara Hiren Dhanani Gaurav Shastri Prabhat Sharma Brett Wilson Yew-Wah Liew |
| author_sort | Sanmukh Ratilal Joshi |
| collection | DOAJ |
| description | BACKGROUND AND OBJECTIVES:
Discrepancy between forward and reverse ABO grouping could be due to several reasons including genetic mutations of the alleles encoding group specific transferase. The healthy donors found with weak A antigen were investigated to ascertain the allele responsible for variation.
MATERIALS AND METHODS:
Standard serological methods were employed using commercial antisera. The molecular sequencing was performed on DNA with enrichment library prep kit and a custom designed overlapping probe panel. Binary alignment mapping files, generated on board the Illumina MiSeq instrument and aligned to the GRCh37/Hg19 reference genome, were uploaded to the QIAGEN CLC genomics workbench software (version. 20) where variant call files were generated and analyzed.
RESULTS:
Red blood cells (RBCs) of six healthy donors, showing weak mix-field agglutination by anti-A and anti-A, B and plasma with absence or weakly reacting anti-A, were investigated serologically. The RBCs incubated with anti-A yield positive elution and their saliva lacked A but possessed H antigen thereby classifying as a historical known phenotype Aend. Family study on 4 probands showed inheritance of the trait. Molecular studies revealed presence of ABO*A allele carrying rare novel variant referred to as c.106delinsGG in line with HGVS recommendation that was thought to be responsible for the variant of A.
CONCLUSION:
Six cases serologically defined as Aweak were found to be associated with novel allele ABO*A (c.106delinsGG). The Aweak phenotype with the novel allele has not been displayed on International Society of Blood Transfusion database, though c.106delinsGG is listed in the UCSC genome browser under rs782544248. |
| format | Article |
| id | doaj-art-906439e5e5d646dd9ff46aa01948089f |
| institution | Kabale University |
| issn | 0973-6247 1998-3565 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Asian Journal of Transfusion Science |
| spelling | doaj-art-906439e5e5d646dd9ff46aa01948089f2025-01-20T09:21:30ZengWolters Kluwer Medknow PublicationsAsian Journal of Transfusion Science0973-62471998-35652024-01-011811610.4103/ajts.ajts_235_23Aweak phenotype associated with novel ABO*A allele variant c.106delinsGGSanmukh Ratilal JoshiGlenda MillardMayuri VekariyaPriya RadadiyaManisha RajaparaHiren DhananiGaurav ShastriPrabhat SharmaBrett WilsonYew-Wah LiewBACKGROUND AND OBJECTIVES: Discrepancy between forward and reverse ABO grouping could be due to several reasons including genetic mutations of the alleles encoding group specific transferase. The healthy donors found with weak A antigen were investigated to ascertain the allele responsible for variation. MATERIALS AND METHODS: Standard serological methods were employed using commercial antisera. The molecular sequencing was performed on DNA with enrichment library prep kit and a custom designed overlapping probe panel. Binary alignment mapping files, generated on board the Illumina MiSeq instrument and aligned to the GRCh37/Hg19 reference genome, were uploaded to the QIAGEN CLC genomics workbench software (version. 20) where variant call files were generated and analyzed. RESULTS: Red blood cells (RBCs) of six healthy donors, showing weak mix-field agglutination by anti-A and anti-A, B and plasma with absence or weakly reacting anti-A, were investigated serologically. The RBCs incubated with anti-A yield positive elution and their saliva lacked A but possessed H antigen thereby classifying as a historical known phenotype Aend. Family study on 4 probands showed inheritance of the trait. Molecular studies revealed presence of ABO*A allele carrying rare novel variant referred to as c.106delinsGG in line with HGVS recommendation that was thought to be responsible for the variant of A. CONCLUSION: Six cases serologically defined as Aweak were found to be associated with novel allele ABO*A (c.106delinsGG). The Aweak phenotype with the novel allele has not been displayed on International Society of Blood Transfusion database, though c.106delinsGG is listed in the UCSC genome browser under rs782544248.https://journals.lww.com/10.4103/ajts.ajts_235_23aweak phenotypec.106deltinsggindian populationnovel allele |
| spellingShingle | Sanmukh Ratilal Joshi Glenda Millard Mayuri Vekariya Priya Radadiya Manisha Rajapara Hiren Dhanani Gaurav Shastri Prabhat Sharma Brett Wilson Yew-Wah Liew Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG Asian Journal of Transfusion Science aweak phenotype c.106deltinsgg indian population novel allele |
| title | Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG |
| title_full | Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG |
| title_fullStr | Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG |
| title_full_unstemmed | Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG |
| title_short | Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG |
| title_sort | aweak phenotype associated with novel abo a allele variant c 106delinsgg |
| topic | aweak phenotype c.106deltinsgg indian population novel allele |
| url | https://journals.lww.com/10.4103/ajts.ajts_235_23 |
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