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Identification of two novel FUT1 alleles in a Chinese para‐Bombay individual

Para-Bombay phenotype is a rare blood group in the field of immunohematology. The molecular basis of para-Bombay blood group was reported in 1994 for the first time, indicating that para-Bombay… Click to show full abstract

Para-Bombay phenotype is a rare blood group in the field of immunohematology. The molecular basis of para-Bombay blood group was reported in 1994 for the first time, indicating that para-Bombay phenotype was caused by the mutations of FUT1 gene. The para-Bombay phenotype is generally produced in two ways, one of which is caused by a silenced FUT1 gene present together with an active FUT2 gene and the other is caused by a mutated FUT1 gene in which the encoded enzyme activity is greatly diminished. Individuals with para-Bombay phenotype may usually have weak A or B antigens depending on the ABO alleles. We now report the discovery of a new para-Bombay phenotype in a Chinese woman caused by the mutation c.422G > T and c.803G > T of FUT1 allele.

Keywords: gene; para bombay; bombay phenotype

Journal Title: Transfusion
Year Published: 2022

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