NPPB基因在妊娠性高血压患者中的突变情况

目的：研究NPPB基因（natriuretic peptide precursor B,NPPB）在妊娠性高血压患者中的突变情况。方法：选取3例妊娠性高血压、80例其他类型高血压患者和60例健康体检者的外周血DNA，应用PCR技术对其NPPB基因进行扩增，产物纯化后．直接测序并收集患者的一般临床资料进行分析。结果：在1例妊娠合并高血压的患者中发现NPPB基因5’侧翼区（insert-1194bp，-1195bp）插入CC，导致后续的序列出现移码突变。结论：NPPB基因插入突变可能是妊娠性高血压发病的原因。

Insert Mutation of NPPB Gene in a Pregnancy-induced Hypertension Patient

Objective：To study the mutation of NPPB gene in pregnancy-induced hypertension patients. Methods：DNA was extracted from peripheral blood of three pregnancy-induced hypertension patients, 80 patients with other types of hypertension and 60 healthy persons. NPPB gene was amplified and purified, then was detected by direct-sequencing analysis. General clinical data of patients were collected and analysed. Results：Insert mutation of 5＇flanking region of NPPB gene（insert-1 194,-1 195）was found in a pregnancy-induced hypertension patient,the mutation is CC insert,resulting in frameshift mutation in the following sequence. Conclusion：Insert mutation of 5＇-flanking region of NPPB gene may be one of the reasons of pregnancy-induced hypertension.