【摘要】：目的對(duì)4個(gè)少汗型外胚層發(fā)育不全家系的EDA基因進(jìn)行測(cè)序分析,研究突變的位置、類(lèi)型,為臨床診斷提供遺傳學(xué)依據(jù)。方法提取先證者及其親屬的基因組DNA,其中患者5人,無(wú)癥狀者12人,另外抽取100名無(wú)先天缺牙家族史的正常成人外周血,提取基因組DNA作為對(duì)照,設(shè)計(jì)EDA基因8個(gè)外顯子的引物,通過(guò)聚合酶鏈反應(yīng)和DNA測(cè)序的方法與正常序列比對(duì)。結(jié)果 4個(gè)家系的患者均存在EDA基因不同位點(diǎn)的突變,分別為c.466CT、c.663-697缺失、c.587-615缺失、c.878TG,攜帶者存在雜合突變,正常對(duì)照不存在以上突變。結(jié)論 EDA基因的c.466CT、c.663-697缺失、c.587-615缺失、c.878TG突變是導(dǎo)致家系先證者及患者出現(xiàn)少汗型外胚層發(fā)育不全的病因。其中,EDA基因的c.663-697缺失、c.587-615缺失、c.878TG是未報(bào)道的新突變。
[Abstract]:Objective to study the location and type of EDA gene in 4 families with hypohidrotic ectodermal dysplasia and to provide genetic basis for clinical diagnosis. Methods the genomic DNA of the proband and his relatives were extracted, including 5 patients and 12 asymptomatic subjects. The peripheral blood samples of 100 normal adults with no family history of congenital dental defects were extracted as controls. Primers for 8 exons of EDA gene were designed and compared with normal sequences by polymerase chain reaction (PCR) and DNA sequencing. Results there were mutations at different sites of EDA gene in four families, which were c. 466CTA, c. 663-697 deletions, c. 587-615 deletions, c. 878TG. the carriers had heterozygosity mutations, but the normal controls did not. Conclusion the mutation of c. 466CTN c. 663-697 deletion of EDA gene and deletion of c. 587-615 c. 878TG is the cause of hypohidrotic ectodermal dysplasia in probands and patients. Among them, the deletion of EDA gene, c. 663-697, and the deletion of c. 587-615, c. 878TG, are new mutations that have not been reported.
【作者單位】： 中南大學(xué)湘雅醫(yī)院口腔醫(yī)學(xué)中心口腔修復(fù)科;濰坊市人民醫(yī)院口腔科;首都醫(yī)科大學(xué)附屬北京口腔醫(yī)院兒童口腔科;
【基金】：湖南省科學(xué)技術(shù)廳科技計(jì)劃一般項(xiàng)目(2012FJ4088)~~
【分類(lèi)號(hào)】：R596.1

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