中国输血杂志2025，Vol.38Issue(3)：426-430,454,6.DOI:10.13303/j.cjbt.issn.1004-549x.2025.03.019
罕见Pk表型个体的血清学和分子生物学分析
Serologic and molecular biology analysis of a rare Pk phenotype
摘要
Abstract
Objective To analyze the serological characteristics and molecular biology results for a Pk phenotype.Methods One patient with Pk phenotype upon unexpected antibodies at Jining Blood Center in July 2022 was selected as the study subject.The blood groups and unexpected antibodies of the proband and his second son were identified using sero-logical methods.The sequences of 3-β-N-acetylgalactosaminyltransferase gene(B3GALNT1)and the coding region of α-1,4-galactosyltransferase gene(A4GALT)were amplified and analyzed by PCR direct sequencing,and haploid sequence anal-ysis was carried out on the variant sites of the B3GALNT1 gene.PROVEAN,SIFT,PolyPhen2 and Mutation Taster were used to analyze the effect of mutations on the protein.Results Serological test results suggested that the proband was a P2k type,including anti-P antibody in his serum,and his son was the P2 phenotype.Sequencing analysis revealed that the proband had a compound heterozygous variants of the B3GALNT1 in c.239T>A(p.Leu80Gln)and c.433C>T(p.Arg145Ter).Further haploid analysis showed that the c.239T>A had occurred in one haploid while c.433C>T was present in the other haploid,and his son carried a heterozygous variant of c.433C>T(p.Arg145Ter);the proband and his son all have homozygous mutation variants of the A4GALT in c.903C>G.Bioinformatic analysis also predicted that the mutations were harmful to the protein function.Conclusion The compound heterozygous variants c.239T>A(p.Leu80Gln)and c.433C>T(p.Arg145Ter)in the B3GALNT1 gene may contribute to the Pk phenotype,of which the c.239T>A variant has not been reported.关键词
Pk表型/3-β-N-乙酰半乳糖氨基转移酶/基因测序Key words
Pk phenotype/3-β-N-acetylgalactosaminyltransferase/gene sequencing分类
医药卫生引用本文复制引用
高欢欢,张娜,耿微,孔凡生..罕见Pk表型个体的血清学和分子生物学分析[J].中国输血杂志,2025,38(3):426-430,454,6.基金项目
山东省医药卫生科技项目(202302071253) （202302071253）
济宁市重点研发计划项目(2022YXNS154) （2022YXNS154）
