广东人群PVRL1的多态性与NSCL/P的相关性分析  

Relationship between PVRL1 gene polymorphisms and non-syndromic cleft lip with or without cleft palate in Guangdong patients

作　　者：舒申友[1] 程红球[1] 唐世杰[1] 陈伟练[1] 吴燊荣[1] 

机构地区：[1]汕头大学医学院第二附属医院唇腭裂治疗中心,广东汕头515041

出　　处：《中国病理生理杂志》2011年第1期86-91,共6页Chinese Journal of Pathophysiology

基　　金：广东省自然科学基金资助项目(No.9151503104000001)

摘　　要：目的:探讨脊髓灰质炎病毒受体相关基因(PVRL1)的多态性与广东人群中非综合征型唇腭裂(NSCL/P,MIM119530)的相关性。方法:应用聚合酶链式反应和直接测序的方法对71例广东人群NSCL/P患者和100个健康志愿者的PVRL1exon 2和exon 5的多态性进行检测;应用基质辅助激光解吸电离飞行时间(MALDI-TOF)质谱分析的方法对100例广东人群NSCL/P患者和100个健康志愿者的PVRL1α亚型的334、391、1 183位点和β亚型的1082位点进行突变检测。结果:PVRL1的exon 2和exon 5未发现有突变位点;质谱分析没有发现PVRL1α亚型的334、391、1 183位点和β亚型的1 082位点相关的S112A、T131A、G361V、V395M突变。结论:PVRL1的exon 2、exon 5,α亚型334T>A、391A>T、1 183G>A,及β亚型1 082G>T的突变并不参与所研究的广东人群非综合征型唇腭裂的发生。AIM： To explore the relationship between non -syndromic cleft lip and/or palate （NSCL/P, MIM 119530） and the polymorphisms of poliovirus receptorlike 1 （PVRL1） in Guangdong patients. METHODS： The polymorphisms of PVRL1 in exon 2 and exon 5 were detected using the techniques of polymerase chain reaction and direct sequencing in 71 NSCL/P patients and 100 volunteers in Guangdong province. Amino acid mutations were detected at alpha spliced transcript codons 112, 131,395 and beta spliced transcript codon 361 using the technique of matrix -assisted laser desorption/ionization time -of- flight （MALDI -TOF） mass spectrometry analysis in 100 NSCL/P patients and 100 volun- teers in this region. RESULTS： Neither mutations in the PVRL1 exon 2 and exon 5 in 71 NSCL/P patients and 100 volunteers were found, nor mutations of alpha spliced transcript codons 112, 131, 395 and beta spliced transcript codon 361 were detected for any of the 100 NSCL/P patients and 100 volunteers. CONCLUSION： Mutations of PVRL1 exon 2 and exon 5, and mutations of alpha spliced transcript 334 T 〉 A, 391 A 〉 T, 1183G 〉 A and beta spliced transcript 1 082 G 〉 T don＇t participate in the formation of NSCL/P within the Guangdong patients examined.

关 键 词：非综合征型唇腭裂 脊髓灰质炎病毒受体相关基因 多态性 

分 类 号：R782[医药卫生—口腔医学]