Molecular genetic analysis and predigree of a new FUT1 allele of para-Bombay blood group: a case report
Journal Title: Chinese Journal of Blood Transfusion - Year 2022, Vol 35, Issue 6
Abstract
Objective To study the serological and molecular mechanism of a case of para-Bombay blood group caused by 236delG mutation of FUT1 gene and investigate the pedigree. Methods The ABO, H and Lewis antigens of the proband and her family members were detected serologically, and the ABO blood group was confirmed by gene testing. The FUT1 gene was amplified by PCR and then sequenced. The structure of FUT1 236delG enzyme of the proband was simulated in 3D by SwissModel online server. Results Serological results showed that the proband was rare para-Bombay ABhm, Le(a-b-). Her father and mother was type A and type B, respectively. The gene results showed that the proband was type AB, while her father and mother was type A and type B, respectively. The sequencing results showed that the proband had 236delG/551_552delAG gene mutation, while her mother had 236delG FUT1 gene mutation, and her father had 551_552delAG FUT1 gene mutation. The 3D simulation of the enzyme structure of the proband FUT1 236delG showed that the translated product was an alpha helix structure with no actual function. Conclusion The 236delG mutation is a new discovered mutation in FUT1 genotype, with 551_ 552delAG mutation(FUT1* 01N.06 genotype), which can result in the generation of para-Bombay blood group.
Authors and Affiliations
Mingdi HE, Tingting XU, Jie ZOU
Keywords
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- EP ID EP738276
- DOI 10.13303/j.cjbt.issn.1004-549x.2022.06.018
- Views 67
- Downloads 0
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