P1P~K血型不合引起习惯性流产的血清学及分子生物学研究1例

发布时间：2018-05-18 04:35

本文选题：PPK血型 + p表型　；参考：《中国输血杂志》2017年04期

【摘要】：目的对1例疑为P1PK血型不合引起习惯性流产患者进行血清学及分子生物学研究,明确患者血型及抗体特异性,阐述其分子遗传机制。方法采用血清学方法鉴定患者及3个家系成员ABO、P1PK血型及血清中意外抗体;PCR扩增编码P1P~k的α1,4-半乳糖基转移酶基因(α1,4-galactosyltransferase gene,A4GALT)第3外显子编码区序列,测序分析DNA序列,并做家系调查。结果血清学试验证实患者及其姐姐均为P1PK血型系统的p表型,患者血清中存在抗-PP1PK(抗-Tja)抗体,测序结果显示患者及其姐姐均在第3外显子出现903CG(CCCCCG)的等位基因突变。结论患者为罕见的p表型,由P1PK血型不合导致血清中产生的抗-PP1PK抗体引起患者习惯性流产,A4GALT基因第3外显子的903CG突变可能是患者p表型形成的分子基础。
[Abstract]:Objective to study the serology and molecular biology of a patient with habitual abortion caused by suspected P1PK blood group incompatibility, to clarify the specificity of blood group and antibody, and to elucidate its molecular genetic mechanism. Methods A serological method was used to identify the nucleotide sequence of the third exon of P1P~k encoding 伪 1C 4 galactosyltransferase gene (伪 1C 4 galactosyltransferase gene A4GALT) in patients and three family members. The DNA sequence was analyzed by sequencing and family investigation. Results the serological tests confirmed that the patients and their sisters were the p phenotype of the P1PK blood group system, and there was anti-PP1PKA antibody in the serum of the patients. The results of sequencing showed that the alleles of 903CGCCCCCCCGCGCCCGCCCGCGCCCGCGCCCGCGCCCGCGCCCGCGCCCGCCCGCGCCCCCGCCCG3 alleles were found in the patients and their sisters in exon 3. Conclusion the patient is a rare p phenotype. The 903CG mutation in exon 3 of A4GALT gene induced by P1PK blood group incompatibility may be the molecular basis of the formation of p phenotype in patients with recurrent abortion induced by anti-PP1PK antibody.
【作者单位】：中国人民解放军第一七四医院/厦门大学附属成功医院检验科;长春博迅生物技术有限责任公司;
【分类号】：R714.21

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