Serological and molecular analysis of a case with para-Bombay phenotype caused by a h(nt328G to A) mutation.
- Author:
Wei GENG
1
;
Huanhuan GAO
;
Peiyan LIU
;
Zhihui FENG
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Adult; Alleles; Base Sequence; Exons; Female; Genotype; Humans; Molecular Sequence Data; Mutation; Point Mutation
- From: Chinese Journal of Medical Genetics 2017;34(3):435-437
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the serological characteristics and molecular basis for an individual with para-Bombay phenotype.
METHODSBlood type of the proband was determined with routine serological methods. Exons 6 and 7 of the ABO gene and coding regions of the FUT1 and FUT2 genes were amplified by PCR and sequenced.
RESULTSThe para-Bombay phenotype was confirmed to be of Ah-secretion type. The genotype of the individual was determined as A102/O01. Position 328 of the FUT1 gene was mutated from A to G, resulting in replacement of Alanine (Ala) at position 110 by Threonine (Thr).
CONCLUSIONThe G to A mutation of nt328 of the FUT1 gene probably underlies the para-Bombay phenotype in this individual.
