發(fā)布時(shí)間：2018-08-03 06:54

【摘要】：目的了解寧夏地區(qū)苯丙酮尿癥(PKU)兒童苯丙氨酸羥化酶(PAH)基因突變的特征。方法以經(jīng)新生兒疾病篩查及氣相色譜-質(zhì)譜聯(lián)用技術(shù)確診的30例寧夏PKU兒童為病例組,30例正常兒童為對(duì)照組,應(yīng)用PCR技術(shù)擴(kuò)增PAH基因的3、5、6、7、11和12,六個(gè)外顯子,再經(jīng)單鏈構(gòu)象多態(tài)性分析和DNA測(cè)序分析PCR擴(kuò)增產(chǎn)物。結(jié)果在60個(gè)等位基因中檢出51個(gè)突變基因,檢出率85%;六個(gè)外顯子共檢出16種致病突變,包括8種錯(cuò)義突變(R241C、R243Q、R252Q、G 257 V、R359K*、R408Q、R 413 P、Q419R),3種剪接突變(IVS 4-1 GA、Y 204 C、IVS 7+2 TA),3種無(wú)義突變(R 111 X、Q160X、Y356X),1種同義突變(V399V)和1種缺失突變(N183del);R243Q突變頻率最高,檢出率為18.3%,其次是Y 204 C(11.7%)、IVS 4-1 GA(10.0%)、R 111 X(6.7%)和IVS 7+2 TA(6.7%)。病例組中發(fā)現(xiàn)Exon 6的N183del(C.547-549del GAA)缺失突變和Exon 11的R359K(C.1078GA)錯(cuò)義突變,為國(guó)內(nèi)首次發(fā)現(xiàn);病例組和對(duì)照組中均檢出V245V(C.735GA)和Q232Q(C.696AG)兩種靜止突變,且差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論寧夏PKU兒童PAH基因六個(gè)外顯子最常見(jiàn)的突變類型是錯(cuò)義突變,特別是R243Q;發(fā)現(xiàn)中國(guó)人群PAH基因的2種新的突變。
[Abstract]:Objective to investigate the characteristics of phenylalanine hydroxylase (PAH) gene mutation in children with phenylketonuria (PKU) in Ningxia. Methods A total of 30 cases of Ningxia PKU children confirmed by neonatal disease screening and gas chromatography-mass spectrometry were selected as control group. The exons of PAH gene were amplified by PCR technique. The amplified products of PCR were analyzed by single strand conformation polymorphism (SSCP) and DNA sequencing. Results 51 mutation genes were detected in 60 alleles, the detectable rate was 85, and 16 pathogenicity mutations were detected in six exons. 鍖呮嫭8縐嶉敊涔夌獊鍙，

本文編號(hào)：2160910