遗传性牙龈纤维瘤病致病基因的排除性定位  

Exclusive Gene Location of Hereditary Gingival Fibromatosis

作　　者：孟秀萍[1] 于海霞[1] 张培因[2] 王万成[1] 申玉芹[1] 张鹏[1] 

机构地区：[1]吉林大学口腔医学院牙周科,吉林长春130041 [2]吉林大学基础医学院分子生物学教研室,吉林长春130041

出　　处：《口腔医学研究》2004年第5期517-520,共4页Journal of Oral Science Research

摘　　要：目的 :对我国现有的 2例家族遗传性牙龈纤维瘤病进行国外已证实的已知基因突变位点 - -SOS1基因2 1号外显子的排除性定位。方法 :采用PCR -SSCP -银染的方法对 2例遗传性牙龈纤维瘤病家系的致病基因进行排除性定位。结果 :两家系中均未发现SOS1基因的缺失。 5 %的聚丙烯酰胺凝胶电泳结果表明两家系中无典型临床表现者电泳条带无明显的异常 ,而有典型临床表现者发现家系 1有 4例患者的电泳条带有明显位移 ,条带离加样孔较正常对照近 ,家系 2有 2例患者的电泳条带有明显位移 ,但条带离加样孔较正常对照远。结论 :两家系无典型临床表现者无SOS1基因的突变 ,有典型临床表现者存在有SOS1基因 2 1号外显子的突变 ,但是 ,是否所有有典型临床症状的患者其基因突变的位置及涉及的碱基片段都相同还需进一步研究。Objective: To exclude known gene mutation,21 exon of SOS1 which had been certified by foreign country ,form 2 families with hereditary gingival fibromatosis. Methods: Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) was used to exclude known gene mutation of HGF from 2 familial gingival fibromatosis. Result: It was not found the deletion of 21 exon of SOS1. PCR-SSCP showed no abnormality among family members without HGF symptoms. However,among family members with typical HGFsymptoms,there were 6 patients (family 1, 4 patients;family 2,2 patients)whose electrophoretic patten were abnormal. In addition ,their abnormalities were not absolutely identical. Conclusion: All members of 2 families without HGF were not found mutation of 21 exon of SOS1,but 6 persons among members with typical HGF symptoms were found mutation .however,whether all members with typical HGF symptoms have same gene mutation is still not clear.

关 键 词：遗传性牙龈纤维瘤病 聚合酶链反应-单链构象多态性分析 基因突变 SOS1基因 

分 类 号：R781.4[医药卫生—口腔医学]