中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
1期
6-10
,共5页
毛新梅%何江%刘媛%李晓强%余伍忠
毛新梅%何江%劉媛%李曉彊%餘伍忠
모신매%하강%류원%리효강%여오충
苯丙酮尿症%苯丙氨酸羟化酶%基因突变%回族
苯丙酮尿癥%苯丙氨痠羥化酶%基因突變%迴族
분병동뇨증%분병안산간화매%기인돌변%회족
Phenylketonuria%Phenylalanine hydroxylase%Mutation%Hui ethnic group
目的 探讨宁夏回族地区苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因突变特点,为该地区苯丙酮尿症(phenylketonuria,PKU)的基因诊断和产前诊断提供依据.方法 应用PCR产物直接测序法,对宁夏地区35例回族PKU患儿和50名正常健康个体的PAH基因第1～13外显子及其旁侧内含子区域进行基因突变分析.结果 共检出20种突变类型,包括错义突变8种(40％)、无义突变5种(25％)、剪切位点突变4种(20％)、缺失突变3种(15％),等位基因突变检出率为68.57％(48/70).最常见的基因突变类型是p.R243Q(12.86％)、p.R241C(11.43％)、EX6-96A＞G(5.71％)、p.Y356X(5.71％)、p.R413P(4.29％)和p.Q232X(4.29％)；较常见的突变类型为S16fsX10(2.86％)、p.R111X(2.86％)和p.L430P(2.86％).其中S16fsX10、p.L430P、p.D222G和IVS11+1G→A突变为国内首次报道,p.Y414X和S303fsX38突变为国内本名族中首次报道.50名正常对照中未检出上述突变.结论 宁夏回族地区PAH基因的突变特点有别于我国其他地区,表现出基因突变的多样性、复杂性和地域性,具有显著的民族特色.
目的 探討寧夏迴族地區苯丙氨痠羥化酶(phenylalanine hydroxylase,PAH)基因突變特點,為該地區苯丙酮尿癥(phenylketonuria,PKU)的基因診斷和產前診斷提供依據.方法 應用PCR產物直接測序法,對寧夏地區35例迴族PKU患兒和50名正常健康箇體的PAH基因第1～13外顯子及其徬側內含子區域進行基因突變分析.結果 共檢齣20種突變類型,包括錯義突變8種(40％)、無義突變5種(25％)、剪切位點突變4種(20％)、缺失突變3種(15％),等位基因突變檢齣率為68.57％(48/70).最常見的基因突變類型是p.R243Q(12.86％)、p.R241C(11.43％)、EX6-96A＞G(5.71％)、p.Y356X(5.71％)、p.R413P(4.29％)和p.Q232X(4.29％)；較常見的突變類型為S16fsX10(2.86％)、p.R111X(2.86％)和p.L430P(2.86％).其中S16fsX10、p.L430P、p.D222G和IVS11+1G→A突變為國內首次報道,p.Y414X和S303fsX38突變為國內本名族中首次報道.50名正常對照中未檢齣上述突變.結論 寧夏迴族地區PAH基因的突變特點有彆于我國其他地區,錶現齣基因突變的多樣性、複雜性和地域性,具有顯著的民族特色.
목적 탐토저하회족지구분병안산간화매(phenylalanine hydroxylase,PAH)기인돌변특점,위해지구분병동뇨증(phenylketonuria,PKU)적기인진단화산전진단제공의거.방법 응용PCR산물직접측서법,대저하지구35례회족PKU환인화50명정상건강개체적PAH기인제1～13외현자급기방측내함자구역진행기인돌변분석.결과 공검출20충돌변류형,포괄착의돌변8충(40％)、무의돌변5충(25％)、전절위점돌변4충(20％)、결실돌변3충(15％),등위기인돌변검출솔위68.57％(48/70).최상견적기인돌변류형시p.R243Q(12.86％)、p.R241C(11.43％)、EX6-96A＞G(5.71％)、p.Y356X(5.71％)、p.R413P(4.29％)화p.Q232X(4.29％)；교상견적돌변류형위S16fsX10(2.86％)、p.R111X(2.86％)화p.L430P(2.86％).기중S16fsX10、p.L430P、p.D222G화IVS11+1G→A돌변위국내수차보도,p.Y414X화S303fsX38돌변위국내본명족중수차보도.50명정상대조중미검출상술돌변.결론 저하회족지구PAH기인적돌변특점유별우아국기타지구,표현출기인돌변적다양성、복잡성화지역성,구유현저적민족특색.
Objective To determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU).Methods For 35 PKU children patients and 50 healthy individuals,all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing.Results Twenty mutations,including 8 missense mutations (40％),5 nonsense mutations (25 ％),4 splice site mutations (20 ％) and 3 deletion mutants (15 ％) were discovered.The overall detection rate was 68.57％ (48/70).Common mutations have included R243Q (12.86％),R241C (11.43％),EX6-96A＞G (5.71％),Y356X (5.71％),R413P (4.29％) and Q232X (4.29％),whilst rarer ones have included S16fsX10 (2.86％),R111X (2.86％) and L430P (2.86％).Among these,S16fsX10,L430P,D222G and IVS11+1G→A have not been reported previously.Y414X and S303fsX38 have not been reported in Hui ethnic group.No mutation was detected in the 50 normal controls.Conclusion The types and distribution of PAH gene mutations in ethnic Hui from Ningxia have been different from other areas of China.The mutations also showed a rich diversity.
