牙体牙髓牙周病学杂志
牙體牙髓牙週病學雜誌
아체아수아주병학잡지
CHINESE JOURNAL OF CONSERVATIVE DENTISTRY
2001年
3期
133-136
,共4页
王英%史俊南%仇学明%肖尚喜%孔祥银
王英%史俊南%仇學明%肖尚喜%孔祥銀
왕영%사준남%구학명%초상희%공상은
牙本质发育不全Ⅱ型%家系%基因%连锁%突变
牙本質髮育不全Ⅱ型%傢繫%基因%連鎖%突變
아본질발육불전Ⅱ형%가계%기인%련쇄%돌변
目的:对中国江苏淮阴一个遗传性牙本质发育不全Ⅱ型家系的致病基因进行定位,同时对该疾病的候选基因之一DMP1进行突变检测。方法:用位于4q21区域的7个微卫星位点对家系进行遗传连锁分析,并通过聚合酶链反应-单链构象多态分析(PCR-SSCP)和DNA测序方法对DMP1基因进行突变检测。结果:所选的7个位点中,除D4S451和D4S1534之外,最大Lod值Zmax均大于3(θ=0);PCR-SSCP和测序结果显示DMP1 Exon 2~6均无突变。结论:遗传性牙本质发育不全Ⅱ型与位于4q21区域的微卫星位点GATA62A11、DSP、DMP1、SPP1和D4S1563连锁;排除了DMP1做为该疾病致病基因的可能性。
目的:對中國江囌淮陰一箇遺傳性牙本質髮育不全Ⅱ型傢繫的緻病基因進行定位,同時對該疾病的候選基因之一DMP1進行突變檢測。方法:用位于4q21區域的7箇微衛星位點對傢繫進行遺傳連鎖分析,併通過聚閤酶鏈反應-單鏈構象多態分析(PCR-SSCP)和DNA測序方法對DMP1基因進行突變檢測。結果:所選的7箇位點中,除D4S451和D4S1534之外,最大Lod值Zmax均大于3(θ=0);PCR-SSCP和測序結果顯示DMP1 Exon 2~6均無突變。結論:遺傳性牙本質髮育不全Ⅱ型與位于4q21區域的微衛星位點GATA62A11、DSP、DMP1、SPP1和D4S1563連鎖;排除瞭DMP1做為該疾病緻病基因的可能性。
목적:대중국강소회음일개유전성아본질발육불전Ⅱ형가계적치병기인진행정위,동시대해질병적후선기인지일DMP1진행돌변검측。방법:용위우4q21구역적7개미위성위점대가계진행유전련쇄분석,병통과취합매련반응-단련구상다태분석(PCR-SSCP)화DNA측서방법대DMP1기인진행돌변검측。결과:소선적7개위점중,제D4S451화D4S1534지외,최대Lod치Zmax균대우3(θ=0);PCR-SSCP화측서결과현시DMP1 Exon 2~6균무돌변。결론:유전성아본질발육불전Ⅱ형여위우4q21구역적미위성위점GATA62A11、DSP、DMP1、SPP1화D4S1563련쇄;배제료DMP1주위해질병치병기인적가능성。
AIM:To study the location of pathogenic gene in dentinogenesis imperfecta type Ⅱ,and to screen the mutation of DMP1 gene. METHODS: The families were analyzed with linkage studies using 7 highly polymorphic microsatellite DNA markers in the region of 4q21. PCR-SSCP and DNA sequencing were employed to detect the mutation of DMP1. RESULT: The maximum Lod scroes of the 7 markers were: D4S451,Zmax=2.76(θ=0.1); D4S1534,Zmax=1.65(θ=0); GATA62A11,Zmax=7.63(θ=0); DSP,Zmax=6.06(θ=0); DMP1,Zmax=8.24(θ=0); SPP1,Zmax=8.39(θ=0); D4S1563,Zmax=7.34(θ=0) respectively. No mutation was detected in DMP1. CONCLUSION: The pathogenic gene of dentinogenesis imperfecta type Ⅱ is linked to GATA62A11,DSP,DMP1,SPP1 and D4S1563 in 4q21; excluding the DMP1 gene from a causative role in the pathogenesis of DGI-Ⅱ.