中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
6期
644-649
,共6页
王凤羽%邵诸君%丰慧根%李聪敏
王鳳羽%邵諸君%豐慧根%李聰敏
왕봉우%소제군%봉혜근%리총민
苯内酮尿症%苯丙氨酸羟化酶%基因突变
苯內酮尿癥%苯丙氨痠羥化酶%基因突變
분내동뇨증%분병안산간화매%기인돌변
phenylketonuria%phenylalanine hydroxylase%gene mutation
目的 了解河南省苯丙酮尿症(phenylketonuria,PKU)患者苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因突变的特点,为临床遗传咨询、基因诊断及产前诊断提供科学依据.方法 应用聚合酶链反应和DNA正反测序技术对34例经典型PKU患者的PAH基因全部13个外显子及两侧部分内含子进行鉴定分析.结果 34例患者共68个PAH等位基因中共检出23种致病突变(包括错义突变12种、无义突变4种、剪接突变4种和缺失3种)和9种其它基因变异.致病基因突变的总检出率为92.65%(63/68).第7外显子的基因突变种类最多,其次是第5外显于和第11外显子.检索PAH基因突变数据库和查阅相关文献,确定有2种突变[A156P和P69_S70delinsP(delCTT)]国际上未见报道,4种突变(IVS2+5G＞C、G332E、IVS10-14C＞G、L367＞Wfs)国内未见报道.结论 河南省PKU患者PAH基因的突变构成及频率与中国其它地区人群稍有不同.
目的 瞭解河南省苯丙酮尿癥(phenylketonuria,PKU)患者苯丙氨痠羥化酶(phenylalanine hydroxylase,PAH)基因突變的特點,為臨床遺傳咨詢、基因診斷及產前診斷提供科學依據.方法 應用聚閤酶鏈反應和DNA正反測序技術對34例經典型PKU患者的PAH基因全部13箇外顯子及兩側部分內含子進行鑒定分析.結果 34例患者共68箇PAH等位基因中共檢齣23種緻病突變(包括錯義突變12種、無義突變4種、剪接突變4種和缺失3種)和9種其它基因變異.緻病基因突變的總檢齣率為92.65%(63/68).第7外顯子的基因突變種類最多,其次是第5外顯于和第11外顯子.檢索PAH基因突變數據庫和查閱相關文獻,確定有2種突變[A156P和P69_S70delinsP(delCTT)]國際上未見報道,4種突變(IVS2+5G＞C、G332E、IVS10-14C＞G、L367＞Wfs)國內未見報道.結論 河南省PKU患者PAH基因的突變構成及頻率與中國其它地區人群稍有不同.
목적 료해하남성분병동뇨증(phenylketonuria,PKU)환자분병안산간화매(phenylalanine hydroxylase,PAH)기인돌변적특점,위림상유전자순、기인진단급산전진단제공과학의거.방법 응용취합매련반응화DNA정반측서기술대34례경전형PKU환자적PAH기인전부13개외현자급량측부분내함자진행감정분석.결과 34례환자공68개PAH등위기인중공검출23충치병돌변(포괄착의돌변12충、무의돌변4충、전접돌변4충화결실3충)화9충기타기인변이.치병기인돌변적총검출솔위92.65%(63/68).제7외현자적기인돌변충류최다,기차시제5외현우화제11외현자.검색PAH기인돌변수거고화사열상관문헌,학정유2충돌변[A156P화P69_S70delinsP(delCTT)]국제상미견보도,4충돌변(IVS2+5G＞C、G332E、IVS10-14C＞G、L367＞Wfs)국내미견보도.결론 하남성PKU환자PAH기인적돌변구성급빈솔여중국기타지구인군초유불동.
Objective To investigate the characteristics of the phenylalanine hydroxylase (PAH)gene mutations in patients with phenylketonuria (PKU) in Henan province, China, in order for providing basic information for clinical genetic counseling and prenatal diagnosis. Methods All the exons and partial flanking introns of the PAH gene were detected by polymerase chain reaction (PCR) and bi-directional sequencing in 34 patients with PKU from Henan province. Results A total of 23 different disease-causing mutations were identified which corresponded to 92.65% (63/68) of the PAH alleles, including 12 missense mutations, 4 nonsense mutations, 4 splicing junction mutations, and 3 deletion mutations. Among them,A156P and P69_S70delinsP(delCTT) were novel mutations;IVS2 + 5G＞ C, G332E, IVS10-14C＞ G and L367＞Wfs were reported in Chinese population for the first time according to the PAH database(www.pahdb. mcgill. ca). Among all the 13 exons, exon 7 harbored the most type of mutations, exon 11 and exon5 the second. The most common mutations included R243Q (17.65%, 12/68), V399V (11.76%, 8/68),IVS4-1G＞A (8.82%, 6/68), R400T(7.35,5/68),Y166X(5.88%,4/68) and G247R(5.88%, 4/68).In addition, 9 other gene variations were found in this study. Conclusion The mutation spectrum and frequency of the PAH gene of patients with phenylketonuria in Henan province were slightly different from those from other parts of China.
