[Investigation of RHD 1227A allele in five pedigrees in Zhejiang Han population].
OBJECTIVE
To analysis the genetic mode of Rh DEL phenotype and RHD 1227A allele in Zhejiang Han population through family investigations.


METHODS
Rh DEL phenotypes were identified by a serologic adsorption-elution method. Two polymerase chain reaction-sequence specific prime (PCR-SSP) methods which detectED RHD 1227A allele and Rhesus hybrid box, respectively, and a nucleotide sequencing method focused on the exon 9 of RHD 1227A allele were employed to determine the zygosity of RHD allele.


RESULTS
All five probands with Rh DEL phenotype harbored a RHD 1227A allele and had a RHD allele deletion, and they were RHD 1227A/RHd heterozygote. One of the parent members was found to contain a RHD 1227A allele and a normal RHD allele in pedigree 1, 2 and 3, respectively. Thus, they were RHD 1227A/RHD heterozygotes and presented normal D positive phenotype. The son of proband No 1. inherited the RHD 1227A allele and presented a normal D positive phenotype due to a RHD 1227A/RHD heterozygote; The offsprings of proband No. 2, No. 4, and No. 5 did not inherit RHD 1227A allele and presented a normal D positive phenotype.


CONCLUSIONS
RHD 1227A allele is an important genetic marker of Rh DEL phenotype; RHD 1227A is recessive to normal RHD allele and dominant to RHd allele; RHD 1227A allele is an ancestral, but not a spontaneously mutated allele.
Chen
An-xin
AX
Department of Transfusion, Jinhua Central Hospital, Jinhua, Zhejiang, 321000 PR China.
Lü
Hao
H
Xu
Feng-juan
FJ
Zhang
Li-ying
LY
Ni
Ying-hua
YH
Ye
Hong-hui
HH
Zhao
Ying
Y
D000483:Alleles; D002681:China; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen