摘要
目的:对血清学表现为JK(a-b-)并产生抗-JK^(3)高频抗原抗体患者及其8名家系成员进行血清学及分子生物学研究,以确定其分子机制,并探究其输血策略。方法:通过血清学实验对家系Kidd血型抗原表型及意外抗体进行检测,采用Sanger法测序SLC14A1基因4-11外显子及其内含子区域。结果:该家系中一条基因JK*B(c.499A>G,c.512G>A,c.588A>G)与另一条基因JK*B(c.342-1G>A,588A>G)组合导致了2名成员JK(ab-)的表型。遗传JK*A(c.130G>A,588A>G)基因成员血清学上均表现为JK^(a+W),遗传JK*B(c.499A>G,c.588A>G)基因的家系成员血清学上均表现为JK^(b+W),(c.499A>G,c.588A>G)突变组合尚未被报道引起抗原减弱。JK(a-b-)的先证者产生了抗-JK^(3)抗体,医院为该患者制定了多项备血策略,患者痊愈出院。结论:本研究确定了该家系JK(a-b-)产生的分子机制,初步确立了本机构Kidd稀有血型备血输血策略,揭示本地区建立稀有血型库的必要性。JK*B(c.499A>G,c.588A>G)可能是导致Kidd抗原减弱的新遗传模式,为群体遗传学研究奠定基础。
Objective:To investigate the molecular mechanism and explore blood transfusion strategies for a proband exhibiting the JK(a-b-)phenotype and anti-JK^(3) high frequency antigen antibody and her eight family members.Methods:The Kidd blood phenotype and irregular antibodies in a family were identified by serologic tests.Exon 4-11and intron region of SLC14A1 gene were sequenced by Sanger method.Results:The combination of the gene JK*B(c.499A>G,c.512G>A,c.588A>G)and gene JK*B(c.342-1G>A,588A>G)in this family were considered to result in the JK(a-b-)phenotype in two members.The members carrying gene JK*A(c.130G>A,588A>G)all present serological JK^(a+W).Members carrying gene JK*B(c.499A>G,c.588A>G)all present serological JK^(b+w),which has not been previously reported to cause antigenic weakening.The proband with JK(a-b-)phenotype produced anti-JK^(3) antibodies,the hospital formulated a number of blood preparation strategies for the patient and she was discharged after recovery.Conclusion:In this study,the molecular mechanism of JK(a-b-)in this family was identified,the transfusion strategy of rare blood group was established in our institution preliminary,and the necessity of establishing a rare blood group bank was revealed in this region.It is suggested that JK*B(c.499A>G,c.588A>G)may be a new genetic pattern leading to the weakening of Kidd antigenicity,which lays a foundation for the study of population genetics.
作者
李小燕
邓琼斐
赖小丽
陈丹丹
王丹
曾选
LI Xiao-Yan;DENG Qiong-Fei;LAI Xiao-Li;CHEN Dan-Dan;WANG Dan;ZENG Xuan(Jiangxi Maternal and Child Health Hospital,Nanchang 330108,Jiangxi Province,China)
出处
《中国实验血液学杂志》
北大核心
2025年第3期869-874,共6页
Journal of Experimental Hematology
