CAJ | 학술논문

目的了解陕西地区苯丙酮尿症(phenylketonuria,PKU)患儿苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因突变特征,为该地区苯丙酮尿症的基因诊断和产前诊断提供参考.方法选择陕西地区55例苯丙氨酸浓度大于2.0 mg/dL的PKU患儿,应用聚合酶链反应结合测序技术对其PAH基因13个外显子及其侧翼序列进行分析.结果 55例患儿110个PAH等位基因中共检出98个突变等位基因,突变检出率为89.10％(98/110)；第7外显子为高频突变区域,包含9种突变,相对突变频率为33.67％00(33/98),其次为第12外显子(14.29％)和第3外显子(12.24％)；共检出PAH基因突变38种,p.R243Q为突变热点,占总突变的24.49％(24/98),3种突变p.A47E、p.I65S和p.A259T国内未见报道,p.C334X经PAHdb和HGMD数据库比对查新,为未报道过的PAH基因新突变.结论初步得到了陕西地区的PAH基因突变图谱,发现1例新突变,为本地区PKU基因诊断、产前诊断积累有价值的资料.
목적 료해협서지구분병동뇨증(phenylketonuria,PKU)환인분병안산간화매(phenylalanine hydroxylase,PAH)기인돌변특정,위해지구분병동뇨증적기인진단화산전진단제공삼고.방법 선택협서지구55례분병안산농도대우2.0 mg/dL적PKU환인,응용취합매련반응결합측서기술대기PAH기인13개외현자급기측익서렬진행분석.결과 55례환인110개PAH등위기인중공검출98개돌변등위기인,돌변검출솔위89.10％(98/110)；제7외현자위고빈돌변구역,포함9충돌변,상대돌변빈솔위33.67％00(33/98),기차위제12외현자(14.29％)화제3외현자(12.24％)；공검출PAH기인돌변38충,p.R243Q위돌변열점,점총돌변적24.49％(24/98),3충돌변p.A47E、p.I65S화p.A259T국내미견보도,p.C334X경PAHdb화HGMD수거고비대사신,위미보도과적PAH기인신돌변.결론 초보득도료협서지구적PAH기인돌변도보,발현1례신돌변,위본지구PKU기인진단、산전진단적루유개치적자료.
Objective To investigate the feature of phenylalanine hydroxylase (PAH) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi.Methods For 55 patients whose blood Phe concentration was over 2.0 mg/dL,potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing.Results A total of 98 mutations were detected in 110 PAH alleles,with the detection rate being 89.10％.Nine mutations have been identified in exon 7,which accounted for 33.67％ of all.Exon 12 (14.29％) and exon 3 (12.24％) have followed.Thirty eight mutations,locating in exon2-exon12 and the flanking sequence,were detected in the 55 PKU patients,p.R243Q (24.49 ％) was the commonest mutation,whilst p.A47E,p.I65S and p.A259T were first discovered in China.After querying international databases including PAHdb and HGMD,the p.C334X was verified as the novel PAH gene mutation.Conclusion The mutation spectrum of the PAH gene in Shaanxi has been identified.And a novel mutation has been identified.This may facilitate the diagnosis of PKU in the future.