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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903C>G(CCC>CCG)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903C>G突变可能是患者p表型形成的分子基础。
Objective To study the serological and molecular biology of a patient with suspected miscarriage of P1PK caused by habitual abortion, clarify the patient’s blood group and antibody specificity, and elucidate its molecular genetic mechanism. Methods Serological methods were used to identify the ABO and P1PK blood group and the unexpected antibodies in the three pedigrees. The α1,4-galactosyltransferase gene (A4GALT) encoding P1P-k was amplified by PCR. Exon 3 coding region sequence, sequencing DNA sequence analysis, and pedigree investigation. Serological tests confirmed that both the patient and his sister were the p-phenotypes of the P1PK blood group. Anti-PP1PK (anti-Tja) antibody was present in the serum of the patients. Sequencing results showed that both the patient and his sister had exon 3 at 903C> G (CCC> CCG) alleles. CONCLUSIONS: The patient is a rare p-phenotype. The anti-PP1PK antibody produced by serum in P1PK incompatibility causes habitual abortion in patients. The 903C> G mutation in exon 3 of A4GALT gene may be the molecular basis for the formation of p-phenotype in patients .