[Genetic analysis of an individual of Ay serologic phenotype].
OBJECTIVE
To study the cause of weak expression of Ay antigens on the surface of erythrocytes and understand its molecular characteristics.


METHODS
Genotypic analysis of an individual of Ay serologic phenotype was performed using polymerase chain reaction with sequence specific primers (PCR-SSP). Sequence analysis of the 7 exons and some of the introns was carried out with ABI Prism 3100 DNA sequencer, and the Ay gene sequence was compared with A102 reference sequence.


RESULTS
The genotype of the Ay individual was A102/101. Sequence analysis identified a nt467C>T mutation, nt1009A/G heterozygosis and a nt517G-/C- deletion in the intron 5.


CONCLUSIONS
The molecular genetic background of the Ay phenotype is polymorphic. Our findings are not sufficient to explain the cause of weak expression of Ay antigens on the surface of erythrocytes in this individual.
Meng
Qing-bao
QB
Department of Blood Transfusion, Shenzhen People's Hospital, Shenzhen 518020, China. mengqingbao @hotmail.com
D000954:Antigens, Surface / Q000235:genetics*; D001483:Base Sequence; D004912:Erythrocytes / Q000378:metabolism; D005786:Gene Expression Regulation; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012698:Serologic Tests
D000954:Antigens, Surface