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目的 检测分析遗传性牙龈纤维瘤病(HGF)一家系患者的临床特点及致病基因.方法 通过诊断HGF先证者,收集一个中国汉族非综合征性HGF家系,患者牙龈组织作HE和MASSON染色进行组织病理学分析.采集家族中患者及健康个体的外周血,提取基因组DNA,PCR扩增SOS1基因各外显子并作直接测序,同源性比较分析.结果 该中国汉族HGF家系中共有四代10人,其中患者4人(男2人,女2人),符合常染色体显性遗传模式.患者牙龈组织病理显示牙龈黏膜上皮钉突延长,纤维结缔组织增生,MASSON染色显示胶原纤维异常增生.基因突变检测未在SOS1基因外显子区域发现突变点.结论 该家系临床特征典型,符合常染色体显性遗传模式.HGF具有一定的遗传异质性,SOS1基因可能不是该中国汉族人HGF家系的致病基因.“,”Objective:To detection the association between SOS 1 gene and non-syndromic hereditary gingival fibromatosis (HGF) in a Chinese Han family.Methods:Peripheral blood samples were collected from the family with non-syndromic HGF including three affected and four unaffected individuals.Genomic DNA was extracted and all exons of SOS1 gene were sequenced.Results:Neither c.3248-3249insc mutation nor other novel mutation in SOS1 gene were found in this family.Conclusion:This study suggests that SOS1 may not be the pathogenic gene in this Chinese Han HGF pedigree.