中华整形外科杂志
中華整形外科雜誌
중화정형외과잡지
CHINESE JOURNAL OF PLASTIC SURGERY
2009年
1期
31-33
,共3页
赵雄%姜润松%刘锐%叶文松%王宁%尚世强%戴叶锋%赵旭飞
趙雄%薑潤鬆%劉銳%葉文鬆%王寧%尚世彊%戴葉鋒%趙旭飛
조웅%강윤송%류예%협문송%왕저%상세강%대협봉%조욱비
唇裂%腭裂%PVRL1基因外显子3
脣裂%腭裂%PVRL1基因外顯子3
진렬%악렬%PVRL1기인외현자3
Cleft lip%Cleft palate%Poliovirus receptor-related 1 exon 3
目的 探讨PVRL 1基因外显子3(poliovims receptor-related 1 exon 3,PVRL 1 exon 3)多态性与江浙地区汉族人群非综合征性唇腭裂(nonsyndromic cleft lip and/or palate,NSCL/P)的相关性. 方法 NSCL/P患者与双亲组成一核心家庭,共50个核心家庭(135人),应用聚合酶链反应-单链构象多态分析技术及测序的方法对NSCL/P患者PVRL 1 exon 3的多态性进行检测. 结果 测序结果与GenBank中PVRL 1 exon 3标准序列比对,未发现W185X突变,也未发现另外可信的多态性位点. 结论 非综合征性唇腭裂的发生与PVRL 1 exon 3多态性无相关性.
目的 探討PVRL 1基因外顯子3(poliovims receptor-related 1 exon 3,PVRL 1 exon 3)多態性與江浙地區漢族人群非綜閤徵性脣腭裂(nonsyndromic cleft lip and/or palate,NSCL/P)的相關性. 方法 NSCL/P患者與雙親組成一覈心傢庭,共50箇覈心傢庭(135人),應用聚閤酶鏈反應-單鏈構象多態分析技術及測序的方法對NSCL/P患者PVRL 1 exon 3的多態性進行檢測. 結果 測序結果與GenBank中PVRL 1 exon 3標準序列比對,未髮現W185X突變,也未髮現另外可信的多態性位點. 結論 非綜閤徵性脣腭裂的髮生與PVRL 1 exon 3多態性無相關性.
목적 탐토PVRL 1기인외현자3(poliovims receptor-related 1 exon 3,PVRL 1 exon 3)다태성여강절지구한족인군비종합정성진악렬(nonsyndromic cleft lip and/or palate,NSCL/P)적상관성. 방법 NSCL/P환자여쌍친조성일핵심가정,공50개핵심가정(135인),응용취합매련반응-단련구상다태분석기술급측서적방법대NSCL/P환자PVRL 1 exon 3적다태성진행검측. 결과 측서결과여GenBank중PVRL 1 exon 3표준서렬비대,미발현W185X돌변,야미발현령외가신적다태성위점. 결론 비종합정성진악렬적발생여PVRL 1 exon 3다태성무상관성.
Objective To study the relationship of nonsyndromic cleft lip and/or palate(NSCL/P) and poliovims receptor-related 1 exon3(PVRL1exon3) polymorphisms in Han People of Jiangzhe area. Methods PVRL1exon3 was examined by polymerase chain reaction-single strand conformation polymprphism (PCR-SSCP) technique in the 50 patients with NSCL/P and 85 healthy parents. Results No W185X mutation was found in the PVRL1 exon 3. Conclusion It indicates that there is no relationship between NSCL/P and PVRL1exon3 in Han People in Jiangzhe area.
