关键词: Rh缺失型D--, 个体, 家庭成员, 血型鉴定, 遗传背景

Abstract: Objective: To analyze the results of blood grouping and genetic background of Rh deletion D--individuals and their family members. Methods: Blood samples of puerpera and her family members were collected to identify ABO blood type and Rh blood type; the blood samples of puerpera and her son were performed direct antiglobulin test (DAT) and anti-human-globulin test. RHD and RHCE gene-specific sequences of puerpera and her family members were amplified by PCR-sequence specific primers (PCR-SSP), and the amplification products were analyzed. Results: The ABO blood type of puerpera, her husband, son, daughter, mother, elder sister and elder brother were all A type, while her younger sister was AB type. The Rh blood type of puerpera was D--, with C, c, E and e antigen deletion. The Rh blood type of puerpera's husband and two children were all D+C+c-E-e+, with C and e antigen. The result of puerpera DAT was negative, while the son was positive (++); The results of anti-human-globulin test were negative; The result of anti-human globulin test was strongly positive, and showed strong agglutination with all cells (+++), and without agglutination with puerpera her own. The PCR results confirmed that there was no abnormality in the puerpera RHD gene and no specific sequence of RHCE gene was detected; Other family members had normal phenotype and RHCE gene products. Moreover, The PCR results of puerperae and her family members were consistent with blood type phenotypegenes. Conclusions: RHCE gene deletion maybe the important molecular basis causing Rh deletion D--.

Key words: Rh deletion D--, Individual, Family members, Blood grouping, Genetic background