国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2011年
3期
123-126
,共4页
曹丽华%麻宏伟%王述森%王琳%罗阳
曹麗華%痳宏偉%王述森%王琳%囉暘
조려화%마굉위%왕술삼%왕림%라양
低磷酸盐血症性佝偻病%PHEX%受体位点%剪接突变
低燐痠鹽血癥性佝僂病%PHEX%受體位點%剪接突變
저린산염혈증성구루병%PHEX%수체위점%전접돌변
Hypophosphatemic rickets%PHEX%Acceptor site%Splicing mutation
目的 鉴定一个低磷酸盐血症性佝偻病家系的致病基因突变.方法 采集患者外周静脉血,提取基因组DNA.PCR扩增PHEX基因22个外显子及外显子/内含子交界区序列,进行DNA测序分析.结果 DNA测序结果表明患儿PHEX基因第20内含子受体位点突变,IVS20-1G＞T.结论 PHEX 基因新剪接突变IVS20-1G＞T导致该家系低磷酸盐血症性佝偻病的发生.
目的 鑒定一箇低燐痠鹽血癥性佝僂病傢繫的緻病基因突變.方法 採集患者外週靜脈血,提取基因組DNA.PCR擴增PHEX基因22箇外顯子及外顯子/內含子交界區序列,進行DNA測序分析.結果 DNA測序結果錶明患兒PHEX基因第20內含子受體位點突變,IVS20-1G＞T.結論 PHEX 基因新剪接突變IVS20-1G＞T導緻該傢繫低燐痠鹽血癥性佝僂病的髮生.
목적 감정일개저린산염혈증성구루병가계적치병기인돌변.방법 채집환자외주정맥혈,제취기인조DNA.PCR확증PHEX기인22개외현자급외현자/내함자교계구서렬,진행DNA측서분석.결과 DNA측서결과표명환인PHEX기인제20내함자수체위점돌변,IVS20-1G＞T.결론 PHEX 기인신전접돌변IVS20-1G＞T도치해가계저린산염혈증성구루병적발생.
Objective The aim of this study was to identify the disease-causing genetic alteration of PHEX gene in a Chinese hypophosphatemic rickets(HR) family.Methods Genomic DNA was extracted from white blood cells by standard methods. All 22 coding exons and their flanking intronic sequences of PHEX gene were PCR-amplified , purified, and subjected to DNA sequencing.Results We identified an acceptor site mutation IVS20-1G ＞T in PHEX gene in the Chinese HR family.Conclusion This study confirms the relationship between the novel splicing mutation IVS20-1G＞T of the PHEX gene and the clinical findings of this HR family.
