- VernacularTitle:中国汉族人群中发现一例Rh血型弱D59型
- Author:
Zhaoping LIAO
1
;
Huiying XU
;
Chunhua LIU
;
Rui WANG
;
Kaihua XIANG
;
Jie FENG
;
Fangjia LE
;
Ting WU
;
Zhihua TAO
Author Information
- Publication Type:Case Reports
- MeSH: Asian Continental Ancestry Group; genetics; China; ethnology; Humans; Male; Middle Aged; Phenotype; Rh-Hr Blood-Group System; genetics
- From: Chinese Journal of Medical Genetics 2018;35(2):261-264
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study a case with weak D59 phenotype identified among ethnic Han Chinese population.
METHODSRoutine serological tests were used to analyze the reaction patterns, and the RhD epitopes were verified with 12 monoclonal antibodies. Sequence-specific primer PCR was applied for typing the weak RhD and RhD zygosity in the proband and his family members.
RESULTSA c.1148T>C variant was identified in the proband, for which serological test indicated a weak D phenotype. RHD zygosity testing confirmed that the proband had a RHD+ /RHD- genotype.
CONCLUSIONA weak D59 phenotype was firstly identified in a Chinese individual.