Investigation of RHD 1227A allele in five pedigrees in Zhejiang Han population.
- Author:
An-xin CHEN
1
;
Hao LÜ
;
Feng-juan XU
;
Li-ying ZHANG
;
Ying-hua NI
;
Hong-hui YE
;
Ying ZHAO
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; China; Female; Genotype; Humans; Male; Pedigree; Phenotype; Polymerase Chain Reaction; methods; Rh-Hr Blood-Group System; genetics
- From: Chinese Journal of Medical Genetics 2006;23(5):536-539
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analysis the genetic mode of Rh DEL phenotype and RHD 1227A allele in Zhejiang Han population through family investigations.
METHODSRh 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.
RESULTSAll 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.
CONCLUSIONRHD 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.