Genetic analysis of an individual with para-Bombay phenotype / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study genetic characteristics of an individual with para-Bombay phenotype and her family members.</p><p><b>METHODS</b>ABO and H antigens were detected with routine serological techniques.The entire coding region of FUT1 gene was amplified by polymerase chain reaction (PCR). PCR products was purified with enzymes digestion and directly sequenced.</p><p><b>RESULTS</b>The RBCs of the proband did not agglutinate with H antibody. The proband therefore has a para-Bombay phenotype (Bmh). Direct sequencing indicated the FUT1 sequence of the proband contained a homozygous 547-552 del AG and heterozygous 814A>G mutation, which gave rise to two haplotypes of 547-552delAG, 547-552delAG and 814A>G. The ABO blood type of the proband' s mother and sisters were all B.Sequencing of the FUT1 gene has found heterozygous 547-552 del AG, 814A>G mutations in the mother and elder sister, and heterozygous 547-552 del AG mutation in her younger sister. The FUT1 547-552 del AG and 814 A>G mutations of the proband were inherited from her mother.</p><p><b>CONCLUSION</b>A complex mutation of the FUT1 gene consisting of 547-55 del AG and 814 A>G has been identified in an individual with para-Bombay phenotype.</p>