Study on molecular genetic structure of Ael blood subgroup / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the ABO allele molecular characteristics of Ael blood subgroup.</p><p><b>METHODS</b>Five individuals of diagnosed as Ael blood subgroup were subjected to PCR amplify ABO alleles using four pairs of sequence-specific primers. Exon 6 and exon 7 at ABO locus of all samples were sequenced. An individual with AelB phenotype was chosen for further analysis of transcript structure of ABO gene.</p><p><b>RESULTS</b>Sequence analysis indicated one Ael phenotype sample with reported Ael01 allele, one Ael phenotype sample with an Ael05 allele, and two AelB and one Ael individuals did not contain referred A allele, but contain O01 or O02 allele with 261G deletion.</p><p><b>CONCLUSION</b>Molecular bases for the Ael have highly polymorphism. The mechanism responsible for the express weak A antigen of O allele with 261G deletion awaits to be elucidated.</p>