The family investigation of a weak D type 15 donor.
- Author:
Wen XIONG
1
;
Jian-jiang QIN
;
Yan LIU
;
Yi-yan ZHOU
;
Chao-peng SHAO
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Alleles; Family Health; Female; Genotype; Homozygote; Humans; Male; Pedigree; Point Mutation; Polymerase Chain Reaction; Rh-Hr Blood-Group System; genetics
- From: Chinese Journal of Medical Genetics 2007;24(1):35-37
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the genetic feature of weak D type 15 allele (RHD845A) in a Chinese family.
METHODSRh D, C, c, E and e phenotypes of 4 members in a weak D type 15 family were tested by serological and polymerase chain reaction (PCR), D antigen was proven by indirect antiglobulin test. A pair of primers specific for RHD845A were designed, and a sequence specific primer-PCR (PCR-SSP) method was established to detect RHD845A allele in all family members. Subsequently the dual-tube PCR method was used to determine the RHD zygosity of 4 members.
RESULTSThe RHD845A allele existed in all 4 family members and the RHD zygosity test showed that all members were RHD +/RHD + homozygous. The parents and nephew possessed one normal RHD gene as RHD845A allele carriers, which caused RhD positive. The proband and his old-sister took two RHD845A alleles, which caused weak D phenotype.
CONCLUSIONThe proband is the weak D type 15 allele homozygous. The weak D type 15 gene is an ancestral allele, but not a mutation.
