Rh null blood group phenotype and pedigree analysis caused by novel base deletion
李安明 1高宏军 2朱晓丽 1戚曦 1秦奕 1高灵宝 1刘新艳
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作者信息
1. 1泰州市人民医院输血科，泰州 225300
2. 2江苏中济万泰生物医药有限公司输血医学研究中心，无锡 214400
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摘要
目的 从基因学角度研究与探讨1例Rhnull血型的形成机制，同时研究其家族成员的Rh血型基因。 方法 通过血型血清学检测泰州市人民医院内科就诊的先证者的Rh血型表型，采用荧光PCR法进行RhCE基因分型，采用桑格法进行RhD、RhCE及RhAG外显子测序，然后分析先证者的Rhnull形成机制。作为对比，通过血型血清学检测先证者的姐姐和儿子的Rh血型表型，进行RhCE基因分型和RhD、RhCE、RhAG外显子测序。 结果 先证者的基因型结果为CcDEe，RhAG外显子测序结果为纯合型移码突变，突变位置在Exon 5，核苷酸改变为c.732delC，氨基酸改变为p.Phe245Serfs*16。先证者姐姐的血清学结果、基因分型和RhAG外显子测序结果及突变位置与先证者相同。其子的血清学结果为CCDee，基因型结果为CCDee，RhAG外显子测序结果为杂合型移码突变，与先证者一致。 结论 分析发现RhAG基因新的变异位点；此位点使得患者RhAG蛋白表达不完整，进而影响其他Rh抗原在细胞膜上的表达，致血清学结果为Rhnull。 Objective To study and discuss the formation mechanism of Rhnull blood group in a case from the perspective of genetics, and to study the Rh blood group genes of her family members. Methods The Rh blood type phenotype of the proband seeking medical treatment at Department of Internal Medicine in Taizhou People’s Hospital was detected by blood type serology. RhCE genotyping as performed by fluorescence PCR. RhD, RhCE and RhAG exon sequencing were performed using Sanger sequencing. And then the Rhnull formation mechanism of the proband was analyzed. For comparison, the Rh blood type phenotype of the proband’s sister and son was detected by serology, and RhCE genotyping, RhD, RhCE and RhAG exon sequencing were performed. Results The genotype of the proband was CcDEe, and the RhAG exon sequencing showed a homozygous frameshift mutation, with the mutation site at Exon5, nucleotide changed as c.732delC, and amino acid change as p.Phe245Serfs*16. The serological results, genotyping, RhAG exon sequencing and mutation location of the sister of the proband were the same as those of the proband The serological result of her son was CCDee, the genotyping result was CCDee, and the RhAG exon sequencing result was heterozygous frameshift mutation, consistent with the proband. Conclusion A novel mutation site in the RhAG gene was discovered after analysis. This site causes incomplete expression of RhAG protein in patients, which in turn affects the expression of other Rh antigens on the cell membrane, resulting in a serological result of Rhnull.
Abstract
Objective To study and discuss the formation mechanism of Rhnull blood group in a case from the perspective of genetics, and to study the Rh blood group genes of her family members. Methods The Rh blood type phenotype of the proband seeking medical treatment at Department of Internal Medicine in Taizhou People’s Hospital was detected by blood type serology. RhCE genotyping as performed by fluorescence PCR. RhD, RhCE and RhAG exon sequencing were performed using Sanger sequencing. And then the Rhnull formation mechanism of the proband was analyzed. For comparison, the Rh blood type phenotype of the proband’s sister and son was detected by serology, and RhCE genotyping, RhD, RhCE and RhAG exon sequencing were performed. Results The genotype of the proband was CcDEe, and the RhAG exon sequencing showed a homozygous frameshift mutation, with the mutation site at Exon5, nucleotide changed as c.732delC, and amino acid change as p.Phe245Serfs*16. The serological results, genotyping, RhAG exon sequencing and mutation location of the sister of the proband were the same as those of the proband The serological result of her son was CCDee, the genotyping result was CCDee, and the RhAG exon sequencing result was heterozygous frameshift mutation, consistent with the proband. Conclusion A novel mutation site in the RhAG gene was discovered after analysis. This site causes incomplete expression of RhAG protein in patients, which in turn affects the expression of other Rh antigens on the cell membrane, resulting in a serological result of Rhnull.
关键词
Rh-Hr血型系统/Rh/null/RhAG基因/RhAG蛋白
Key words
Rh-Hr blood-group system/Rh null/RhAG gene/RhAG protein
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