目的　通过对 1个Liddle综合征家系的临床表现及其上皮细胞钠通道 β亚单位(hβENaC)基因的研究 ,揭示本家系发病的遗传机制 ,为诊断 (尤其产前诊断 )和治疗提供有力的佐证。方法　 (1)对家系成员进行常规体检及血钾、血浆肾素活性、醛固酮水平测定 ;(2 )用单链变构多态性PCR DNA测序等分子生物学方法对hβENaC基因进行分析。结果　在这个Liddle家系中发现了hβENaC基因 (SCNN1B)的 1个移码突变 (1bp ,INS ,6 0 0G) ,8个成员携带此突变基因 ,他们均有严重的高血压、低醛固酮及低肾素活性。 5 0个无关正常人中无突变基因。结论　在这个Liddle综合征家系中发现的hβENaC基因的移码突变很可能为此家系的致病基因 OBJECTIVE: To study the clinical manifestations of a Liddle syndrome pedigree and its epithelial sodium channel β subunit (hβENaC) gene in order to reveal the genetic mechanism of this family and to provide evidence for diagnosis (especially prenatal diagnosis) and treatment . Methods (1) Routine physical examination and serum potassium, plasma renin activity and aldosterone levels were measured in family members. (2) The hβENaC gene was analyzed by single-stranded allotopic PCR and DNA sequencing. Results One frameshift mutation (1bp, INS, 600G) of hβENaC gene (SCNN1B) was found in this Liddle pedigree. Eight of the members of the Liddle family had this mutation gene. All of them had severe hypertension, low aldosterone and low kidney Succulent activity. 50 unrelated normal people without mutations in the gene. Conclusion The frameshift mutation of hβENaC gene found in this Liddle syndrome pedigree is likely to be the causative gene of this family