Chen An-Xin, Wu Jun-Jie, Xu Feng-Juan, Zhang Li-Ying, Ni Ying-Hua, Fu Qi-Hua
Department of Transfusion Medicine, Jinhua Central Hospital, Jinhua 321000, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2006 Oct;14(5):1029-32.
This study was purposed to investigate the molecular basis of Rh DEL phenotype. Rh DEL phenotypes were identified by a serologic adsorption-elution method, the nucleotide sequences of ten RHD exons and exon-intron boundary regions were evaluated by a RHD gene-specific PCR-SSP (PCR-SSP, polymerase chain reaction-sequence specific primer) and sequencing. The results showed that out of 122 random Rh negative donors 35 Rh DEL phenotypes were identified through serologic method, including 6 RhCCdee (17.14%), 28 RhCcdee (80.00%), and 1RhCcdEe (2.86%). Sequence analysis indicated that all DEL phenotypes harbored a RHD 1227 G > A mutation in exon 9. D zygosity test revealed that 29 DEL phenotypes (28 RhCcdee and 1 RhCcdEe) had one RHD gene deleted, and 6 DEL phenotypes (6 RhCCdee) had homogenous RHD gene. It is concluded that RHD 1227A is an important genetic marker for Rh DEL phenotype in Zhejiang Han population.
本研究旨在探讨Rh DEL血型表型的分子基础。采用血清学吸附 - 洗脱法鉴定Rh DEL血型表型，通过RHD基因特异性聚合酶链反应 - 序列特异性引物（PCR - SSP）和测序评估10个RHD外显子及外显子 - 内含子边界区域的核苷酸序列。结果显示，在122例随机Rh阴性献血者中，通过血清学方法鉴定出35例Rh DEL血型表型，其中包括6例RhCCdee（17.14%）、28例RhCcdee（80.00%）和1例RhCcdEe（2.86%）。序列分析表明，所有DEL血型表型在外显子9均存在RHD 1227 G > A突变。D合子性检测显示，29例DEL血型表型（28例RhCcdee和1例RhCcdEe）有一个RHD基因缺失，6例DEL血型表型（6例RhCCdee）有同源RHD基因。结论：RHD 1227A是浙江汉族人群Rh DEL血型表型的重要遗传标记。
