摘要
目的通过对惠州地区无偿献血者Kidd血型抗原进行检测,了解其在人群中的分布特点及Jk(a-b-)分子遗传背景,对其在临床输血中的风险进行评估。方法采用微板法尿素溶血试验对惠州市中心血站2016年12月—2017年12月的30 475例献血者进行Kidd血型抗原筛查,筛出的Jk(a-b-)型用血清学试管法进行确认,并提取其DNA用PCR方法扩增JK基因第4—11外显子及部分内含子片段,对扩增产物进行直接测序分析。随机抽取献血者标本426例,采用试管法对其Kidd血型抗原进行鉴定,并计算输血不合风险。结果在30 475例献血者中筛选出7例Jk(a-b-)表型,分布频率为0.023%。对其中5名Jk(a-b-)献血者进行基因测序,发现2种基因变异:4名为纯合IVS5-1G>A,1名为纯合896G>A。Jk^(a )和Jk^(b )的基因频率分别为0.434 3和0.565 7。Jk^a不配合输血的风险为0.217 6,Jk^(b )不配合的风险为0.153 0,Jk^(a )和Jk^(b )不配合的风险合计为0.370 6。抗-Jk^(a )随机输血不配合的概率为69.0%,抗-Jk^(b )随机输血不配合的概率为82.2%。结论惠州地区Kidd血型基因频率分布符合Hardy-weinberg群体遗传平衡法则;IVS5-1G>A基因变异是本地区人群中最常见的变异。建立Jk(a-b-)稀有表型资料库,储备一定数量的该类血液制品,对于该类表型的稀有血型患者的安全输血具有重要意义。
Objective To investigate the distribution characteristics of Kidd blood group antigen and the molecular genetic background of Jk(a-b-) in voluntary blood donors in Huizhou, and to evaluate its risk in clinical blood transfusion.Methods Blood samples of 30 475 donors from Huizhou Central Blood Station, December 2016 to December 2017, were screened for Kidd blood group antigen by microplate urea hemolysis test. The Jk(a-b-) samples were confirmed by serological test and DNAs were extracted to amplify exon 4—11 and partial intron of JK gene by PCR. The amplified products were sequenced directly. Kidd blood group antigens in 426 randomly selected blood samples were identified by serological test,and the risk of mismatched transfusion was calculated. Results Seven Jk(a-b-) phenotypes were screened out from 30 475 blood donors with a distribution frequency of 0.023%. Five Jk(a-b-) donors were sequenced and 2 genetic variations were found: 4 homozygous IVS5-1 G > A and 1 homozygous 896 g > A. The gene frequencies of Jka and Jkb were 0.434 3 and 0.565 7, respectively. The risk of Jka and Jkb mismatch was 0.217 6 and 0.153 0, respectively, with a total mismatch rate of 0.370 6.The risk of anti-Jka and anti-Jkb mismatch was 69.0% and 82.2%, respectively.Conclusion The gene frequency of Kidd blood group were consistent with the Hardy-weinberg genetic equilibrium in Huizhou area. The IVS5-1 G>A mutation is the most common variations identified in this populations.To establish the Jk(a-b-) rare phenotype database and reserve a certain amount of such blood products is of great significance for the safe blood transfusion of rare blood type patients with this type of phenotype.
作者
严凤好
曾少丽
曾演强
钟展华
万小春
马丽
YAN Fenghao;ZENG Shaoli;ZENG Yanqiang;ZHONG Zhanhua;WAN Xiaochun;MA Li(Huizhou Blood Center,Huizhou 516001,China)
出处
《中国输血杂志》
CAS
2018年第12期1398-1401,共4页
Chinese Journal of Blood Transfusion
基金
惠州市医疗卫生类科技计划项目(2017Y098)
