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.
作者
李安明
高宏军
朱晓丽
戚曦
秦奕
高灵宝
Li Anming;Gao Hongjun;Zhu Xiaoli;Qi Xi;Qin Yi;Gao Lingbao(Department of Blood Transfusion,Taizhou People’s Hospital,Taizhou 225300,China;Blood Transfusion Institute,Jiangsu Zojiwat Biopharmaceutical Limited Company,Wuxi 214400,China)
出处
《中华生物医学工程杂志》
CAS
2023年第4期390-394,共5页
Chinese Journal of Biomedical Engineering
