[Determination of human RHD gene rhesus box and its significance].
The aim was to determine RHD zygosity, further to investigate genetic structure of RHD gene, and to predict hemolytic disease of newborn (HDN). The upstream box, downstream box, and hybrid box of RHD gene were determined by PCR-SSP with 4 primers under the same conditions. The results showed that only hybrid box could be determined in RHD(-)/RHD(-) homozygosity. All the upstream box, downstream box, and hybrid box could be determined in RHD(+)/RHD(-) heterozygosity, while upstream box and downstream box except hybrid box could be determined in RHD(+)/RHD(+) homozygosity. Out of 50 cases of RhD(+), 5 cases (10%) were RHD(+)/RHD(-) heterozygosity, and the others (90%) were RHD(+)/RHD(+) homozygosity. 54 cases (55.1%), 36 cases (36.7%) and 8 cases (8.2%) were RHD(-)/RHD(-) homozygosity, RHD(+)/RHD(-) heterozygosity, and RHD(+)/RHD(+) homozygosity respectively in 98 unrelated cases of RhD(-) Chinese Hans. 2 cases of weak D were proved to be RHD(+)/RHD(-) heterozygosity. Out of 16 D(el) types, the upstream box, downstream box, and hybrid box could be determined in 10 cases (37.5%) and the upstream box and downstream box except hybrid box could be determined in 6 cases. Results detecting of RHD 10 exons in above samples proved the correctness of the method. It is concluded that the method is suitable for clinical application with its simplicity and veracity. There are many noneffective RHD genes (44.9%) in Chinese Hans with RhD(-) phenotype.
Zhou
Hua-You
HY
Department of Blood Transfusion, Nanfang Hospital, The First Military Medical University, Guangzhou 510515, China.
Lan
Jiong-Cai
JC
Wang
Xiao-Zhu
XZ
Fan
Hong
H
Wang
Yi
Y
Meng
Qing-Bao
QB
Zhao
Xiang-Sheng
XS
Zhang
Yin-Ze
YZ
D005838:Genotype; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
D011993:Recombinant Fusion Proteins; D012204:Rh-Hr Blood-Group System; C117760:RhD fusion protein, human; C026410:Rho(D) antigen