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目的了解恩施州土家族人群RhD阴性个体的表型分布及基因合子型特点。方法根据中国人Rh分子特点和RHD基因缺失原理设计2对引物,对从56 159(人)份土家族人群中筛查出无血缘关系的Rh阴性个体,检测其RHD基因第1外显子和融合合子型。结果血型血清学检测恩施州土家族人群的RhD阴性比例为1.5‰(85/56 159);PCR-SSP法鉴定出其中63.53%(54/85)为RHD-/RHD-,32.94%(28/85)为RHD+/RHD-型,3.53%(3/85)为RHD+/RHD+型。结论恩施州土家族RhD阴性人群的RHD基因合子型中的RHD+/RHD-杂合型比例高于浙江汉族RhD阴性人群(25.48%)及中国哈萨克族RhD阴性人群(16.67%)的相应比例。
Objective To investigate the phenotypic distribution and gene zygosity of RhD-negative individuals in Tujia nationality in Enshi Autonomous Prefecture. Methods According to the characteristics of Chinese Rh and RHD gene deletion, two pairs of primers were designed. Rh-negative individuals from 56 159 human Tu families were screened for unrelated Rh-negative individuals and their RHD exon 1 and Fusion zygote. Results The serological detection of RhD in Tujia nationality in Enshi Autonomous Prefecture was 1.5 ‰ (85/56 159), of which 63.53% (54/85) were RHD- / RHD- and 32.94% (28 / 85) is RHD + / RHD-type and 3.53% (3/85) is RHD + / RHD +. Conclusion The RHD + / RHD-heterozygous type of RHD gene in RhD-negative population of Tujia ethnic group in Enshi prefecture is higher than that of RhD-negative population (25.48%) in Zhejiang province and Rh-negative population (16.67%) in China.