CAJ | 학술논문

目的研究10例家族性及非家族性(散发)抗维生素D佝偻病患者PHEX基因突变,初步探讨我国东北地区抗维生素D佝偻病患者PHEX基因突变的类型.方法应用常规饱和酚-氯仿法提取基因组DNA,聚合酶链反应扩增PHEX基因22个外显子序列,DGGE方法结合测序检测突变.结果 3名患者检测出PHEX基因突变:患者(H11)检测出16外显子上游46 bp(T>C)突变;患者(H1,H2)检测出18外显子1861(C>T)(Gin621X)的无义突变.结论 PHEX基因突变是抗维生素D佝偻病的致病原因.检测到的这两种PHEX基因突变为国际上首次报道的新的突变类型.
목적 연구10례가족성급비가족성(산발)항유생소D구루병환자PHEX기인돌변,초보탐토아국동북지구항유생소D구루병환자PHEX기인돌변적류형.방법 응용상규포화분-록방법제취기인조DNA,취합매련반응확증PHEX기인22개외현자서렬,DGGE방법결합측서검측돌변.결과 3명환자검측출PHEX기인돌변:환자(H11)검측출16외현자상유46 bp(T>C)돌변;환자(H1,H2)검측출18외현자1861(C>T)(Gin621X)적무의돌변.결론 PHEX기인돌변시항유생소D구루병적치병원인.검측도적저량충PHEX기인돌변위국제상수차보도적신적돌변류형.
Objective To perform the mutational analysis of the PHEX gene in 10 patients with fa-milial and non_familial(sporadic)forms of vitamin D resistant rickets.Methods After the amplification of 22 exon8 of PHEX gene by polymerase chain reaction,mutations were detected by DGGE.Results Two different mutations were detected in PHEX gene among 3 patients:There was one mutation(T>C)in exon 16 of H11 patient,one mutation 1861(C>T)(Gin621X)in exon 18 of HI and 142 patients.Conclusion The mutation of PHEX gene is the cause of vitamin D resistant tickets.The two mutations are reported for the first time.