Rh阳性个体RHD杂合性分析

目的 分析中国汉族Rh(D)阳性个体的RHD杂合性,讨论Rh阴性妇女产前Rh同种免疫预防策略.方法 血清学检测31 115名汉族捐血者的Rh(D)表型,分析Rh(D)阳性个体的RHD杂合率;对其中3628名随机Rh阳性个体采用PCR方法直接测定RHD合子型,计算杂合率与前者比较.结果 31 115名捐血者中采用间接抗人球蛋白试验(indirect antiglobulin test,IAT)确认99名个体为Rh(D)阴性(0.318%),d基因频率0.056 41,D基因频率0.943 59,Dd杂合型0.106 45(10.6%),考虑IAT检测D放散型为Rh(D)阴性,计算后实际Dd杂合型为0.090 32(约9.0%);PCR测定3628名Rh阳性个体RHD合子型测定显示DD纯合型3383人(93.2%),Dd杂合体245名(6.8%),由于无效RHD等位基因的PCR结果为阳性(D),重新分析后实际携带1条功能性RHD基因的杂合性个体约7.4%.提示中国汉族Rh(D)阴性妇女当配偶为Rh(D)阳性时,子女Rh(D)阴性的比率约3.7%～4.5%.结论 中国新生儿Rh同种免疫预防进行侵入性胎儿Rh(D)血型预测意义不大,或可直接假定新生儿为Rh(D)阳性进行产前检查和同种免疫防护.

Abstract：

Objective To investigate the RHD zygosity of Rh(D)-positive Chinese Hans in order to study the mother-fetus Rh isoimmunization prophylaxis. Methods Rh(D) blood group of 31 115 donors were serotyped, and the RHD zygosities were analyzed, or determined through a PCR method for 3628 donors of Rh(D)-positive individuals. Results Among the 31 115 donors, 99 were tested Rh(D)-negative by indirect antiglobulin test (IAT) (0. 318%). The d frequency was 0. 056 41, D was 0. 943 59, and Dd heterozygosity was 0. 106 45 (10.6%). However the rate was 0.090 32 (about 9.0%) after excluding DEL (IAT-negative). For the 3628 PCR tested donors, 3383 were DD (93. 2%), 245 were Dd (6.8%). After excluding nonfunctional RHD alleles, 7. 4% of the donors were carrying one functional RHD. It showed that an Rh(D)-negative Chinese Hah woman gives an Rh(D)-negative child at a rate of 3.7%-4. 5% when her husband is Rh (D)-positive. Conclusion Fetus Rh (D)-genotyping may be unnecessary for Chinese Hans if invasive operation was needed for prenatal diagnosis. The Rh prophylaxis could be chosen assuming an Rh(D)-positive fetus.

An analysis of RHD zygosity of Rh(D)-positive Chinese Han population

Objective To investigate the RHD zygosity of Rh(D)-positive Chinese Hans in order to study the mother-fetus Rh isoimmunization prophylaxis. Methods Rh(D) blood group of 31 115 donors were serotyped, and the RHD zygosities were analyzed, or determined through a PCR method for 3628 donors of Rh(D)-positive individuals. Results Among the 31 115 donors, 99 were tested Rh(D)-negative by indirect antiglobulin test (IAT) (0. 318%). The d frequency was 0. 056 41, D was 0. 943 59, and Dd heterozygosity was 0. 106 45 (10.6%). However the rate was 0.090 32 (about 9.0%) after excluding DEL (IAT-negative). For the 3628 PCR tested donors, 3383 were DD (93. 2%), 245 were Dd (6.8%). After excluding nonfunctional RHD alleles, 7. 4% of the donors were carrying one functional RHD. It showed that an Rh(D)-negative Chinese Hah woman gives an Rh(D)-negative child at a rate of 3.7%-4. 5% when her husband is Rh (D)-positive. Conclusion Fetus Rh (D)-genotyping may be unnecessary for Chinese Hans if invasive operation was needed for prenatal diagnosis. The Rh prophylaxis could be chosen assuming an Rh(D)-positive fetus.