[Molecular genetic analysis of Diego blood group Dia and Dib in Chinese Han population].
OBJECTIVE
To study the molecular genetic background of Diego blood group in Chinese Han population.


METHODS
A total of 2990 blood samples from unrelated blood donors were phenotyped for Dia and Dib by serological method. Twenty randomly selected samples of Di(a-b+) type and all of the samples of rare Di(a+b-) phenotype by screening were genotyped by PCR-SSP and direct DNA Sequencing.


RESULTS
Of the 2990 samples identified by serological method, 2821 were Di(a-b+), 167 were Di(a+b+) and 2 were Di(a+b-). All of the 20 randomly-selected samples with Di(a-b+) phenotype were DI2DI2 homozygote by PCR-SSP genotyping, with nucleotide C at nt position 2561 in exon 19 by direct sequencing of the DI gene. The 2 samples of rare Di (a+b-) phenotype were both the DI1DI1 homozygote, with nucleotide T at nt position 2561 in exon 19.


CONCLUSIONS
Our results indicate that the expression of Dia and Dib antigens in Chinese Han population most likely result from a single nucleotide T to C substitution at nucleotide position 2561 in exon 19 of the DI gene, which subsequently leads to an amino acid 854 change from Pro to Leu.
Yang
Bao-cheng
BC
Shenzhen Blood Center, Shenzhen Institute of Transfusion Medicine, Shenzhen 518035, China. yangbaocheng2004@163.com
Su
Yu-qing
YQ
Yu
Qiong
Q
Wei
Tian-li
TL
Li
Da-cheng
DC
Liang
Yan-lian
YL
D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001782:Blood Donors; D001789:Blood Group Antigens / Q000235:genetics* / Q000276:immunology / Q000378:metabolism*; D001788:Blood Grouping and Crossmatching / Q000379:methods*; D002681:China / Q000208:ethnology; D005091:Exons / Q000235:genetics; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA
D001789:Blood Group Antigens