Serological and gene sequencing analysis of a case of para-Bombay phenotype Amh
  
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DOI:10.46701/BG.2020012020104
KeyWord:blood group, para-Bombay phenotype, FUT1 gene
           
AuthorInstitution
Xiaoli Li Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Ruirui Su Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Yuan Zhang Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Xiaofei Li Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
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Abstract:
      The paper aims to study the serological and genetic characteristics of a case of para-Bombay Amh . The serological method was applied to identify the proband's ABO phenotype and PCR-SSP assay was used to analyze the genotype of the para-Bombay blood. DNA sequencing of the PCR products of the first exon of FUT1 gene was used to analyze the genotype and nucleic acid sequence mutation. The serological results showed that the ABO phenotype of the proband was O-type. However, while after absorption-elution test, the ABO phenotype showed weak A-type. The serological test also showed that the irregular antibody anti-H was positive. PCR-SSP assay showed that the proband was h4 para-Bombay type and sequence analysis showed a point mutation c.35C>T of FUT1 gene. The study suggests that genetic analysis is necessary for blood typing in those who have elusive immunological typing results.
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