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目的:鉴定1例n RhD基因分型与血清学结果不符的标本，并探讨其分子机制。n 方法:分析该家系两代共8名成员的血清学结果，根据孟德尔遗传定律逐步推导，针对性地对该家系成员进行了n RhD基因分型、合子型测定和基因测序。n 结果:先证者及其一表姐有相同的n RhD等位基因，均含有336-1G>A内含子变异基因和全缺失型基因。变异基因遗传自其父母中有血缘关系的两人，全缺失型基因来自父母中另一方。n RhD基因第2内含子336-1G>A变异导致先证者RhD血清学为阴性而基因分型为阳性。n 结论:该家系中存在罕见的336-1G>A内含子变异基因(n RhD*01n N.25)，其相对于n RhD基因为隐性基因，可导致RhD表型阴性。n “,”Objective:To explore the molecular mechanism of a case where n RhD genotyping did not match serological results.n Methods:The serological results of 8 members from two generations of this family were analyzed. And according to Mendelian law of inheritance, n RhD genotyping, zygotic type determination and gene sequencing were performed for the family members.n Results:The proband and one of her cousins have the same n RhD alleles, both of them have a 336-1G>A intron variantn RhD allele and a complete n RhD deletion allele. The variant alleles are inherited from two of their parents with blood relationship, while the complete-deleted alleles come from the other. 336-1G>A means that the last base G of the second intron of then RhD gene is mutated to A, which leads to a negative RhD serology and a positive genotype in the proband.n Conclusion:There was a rare 336-1G> A intron variant gene (n RhD * 01n N.25) in this family, which was a recessive gene relative to the n RhD gene and resulted in RhD phenotype negative.n