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目的研究Kidd系统稀有血型Jk(a-b-)产生抗-JK3引起的新生儿溶血病,Jk(a-b-)表型的分子机理及其家系Kidd血型的基因遗传。方法对患儿血样做新生儿溶血病三项检测:直接抗人球蛋白试验、血清游离抗体和红细胞放散试验;患儿母血样做抗体鉴定及Kidd血型鉴定;患儿父血样做Kidd血型鉴定;采用PCR-SSP方法对患儿及其父母做Kidd血型的基因检测,并对Jk4-11外显子及其侧翼区域扩增后测序,分析其序列信息。结果患儿为B型RhD阳性、Kidd表型为Jk(a-b+)、基因型为JKB/JKB(IVS5-1);患儿母为O型RhD阳性,Kidd表型为Jk(a-b-)、基因型为Jkb(IVS5-1)/JKb(IVS5-1);患儿父为B型RhD阳性,Kidd表型为Jk(a-b+)、基因型为Jkb/Jkb;患儿母血浆中存在抗-Jk3,患儿为抗-Jk3引起的新生儿溶血病。结论患儿母在Jk~b等位基因第5内含子3’端保守区剪切结合位点处发生了G到A的突变,导致mRNA转录本中从第6外显子开始缺失,致其Kidd表型为J k(a-b-),其因妊娠免疫产生了抗-JK3并导致患儿发生新生儿溶血病。
Objective To study the molecular mechanism of Jk (a-b-) phenotype produced by Jk (a-b-) in Kidd system and anti-JK3-induced neonatal hemolytic disease and the genetic inheritance of Kidd blood group in pedigree. Methods Three samples of neonatal hemolytic disease were tested in the blood samples of the children: direct anti-human globulin test, serum free antibody and erythrocyte discharge test; the maternal blood sample was used to make antibody identification and Kidd blood group identification; PCR-SSP method was used to detect the genotype of Kidd blood group in children and their parents. The Jk4-11 exon and its flanking regions were amplified and sequenced, and their sequence information was analyzed. Results The children were RhD positive for type B, the Kidd phenotype was Jk (a-b +), and the genotype was JKB / JKB (IVS5-1). The positive children with O RhD and the Kidd phenotype were Jk (ab-) The genotype was Jkb (IVS5-1) / JKb (IVS5-1). The father was RhD positive for type B, the Kidd phenotype was Jk (a-b +) and the genotype was Jkb / Jkb. Anti-Jk3 is present in children with anti-Jk3-induced neonatal hemolytic disease. Conclusion The mutation of G to A occurred at the cleavage site of the conserved region at the 3 ’end of intron 5 of Jk ~ b allele in infants, leading to the deletion of exon 6 from the mRNA transcript Its Kidd phenotype is Jk (ab-), which produces anti-JK3 due to pregnancy immunity and leads to neonatal hemolytic disease in children.