中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
1期
26-30
,共5页
余伍忠%仇东辉%宋防%刘丽%刘绍明%何新建%金煜炜%张燕铃%邹红云%何江%雷权%刘兴文
餘伍忠%仇東輝%宋防%劉麗%劉紹明%何新建%金煜煒%張燕鈴%鄒紅雲%何江%雷權%劉興文
여오충%구동휘%송방%류려%류소명%하신건%금욱위%장연령%추홍운%하강%뢰권%류흥문
苯丙酮尿症%苯丙氨酸羟化酶%基因突变
苯丙酮尿癥%苯丙氨痠羥化酶%基因突變
분병동뇨증%분병안산간화매%기인돌변
phenylketonuria%phenylalanine hydroxylase%gene mutation
目的 了解新疆地区苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因的突变规律及特点.方法 应用聚合酶链反应一单链构象多态性分析及基因测序列方法 ,检测46例苯丙酮尿症患者PAH基因第3、5、6、7、11和12外显子及其两侧内含子序列.结果 在92个PAH等位基因中共检出20种不同的突变基因,总检出率为73.9%(68/92).其中常见基因突变R243Q、EX6-96A＞G、R111X、Y356X和V399V与我国北方地区基本类似.较常见基因突变F161S、L255S、P281L和R413P与国内其他地区相比差异较大.E280G和A434D为在国际上第2次检出;L255S、P281L、R261Q和165T为在国内第2次检出.新疆少数民族也发现了13种PAH基因突变,均系在本民族中首次报道,其突变基因的类型表现出鲜明的民族特色.结论 从对新疆地区PAH突变基因的研究结果 来看,该地的遗传基因不仅具有独立、保守的特性,而且还存在着相互交叉、相互融合的特征.
目的 瞭解新疆地區苯丙氨痠羥化酶(phenylalanine hydroxylase,PAH)基因的突變規律及特點.方法 應用聚閤酶鏈反應一單鏈構象多態性分析及基因測序列方法 ,檢測46例苯丙酮尿癥患者PAH基因第3、5、6、7、11和12外顯子及其兩側內含子序列.結果 在92箇PAH等位基因中共檢齣20種不同的突變基因,總檢齣率為73.9%(68/92).其中常見基因突變R243Q、EX6-96A＞G、R111X、Y356X和V399V與我國北方地區基本類似.較常見基因突變F161S、L255S、P281L和R413P與國內其他地區相比差異較大.E280G和A434D為在國際上第2次檢齣;L255S、P281L、R261Q和165T為在國內第2次檢齣.新疆少數民族也髮現瞭13種PAH基因突變,均繫在本民族中首次報道,其突變基因的類型錶現齣鮮明的民族特色.結論 從對新疆地區PAH突變基因的研究結果 來看,該地的遺傳基因不僅具有獨立、保守的特性,而且還存在著相互交扠、相互融閤的特徵.
목적 료해신강지구분병안산간화매(phenylalanine hydroxylase,PAH)기인적돌변규률급특점.방법 응용취합매련반응일단련구상다태성분석급기인측서렬방법 ,검측46례분병동뇨증환자PAH기인제3、5、6、7、11화12외현자급기량측내함자서렬.결과 재92개PAH등위기인중공검출20충불동적돌변기인,총검출솔위73.9%(68/92).기중상견기인돌변R243Q、EX6-96A＞G、R111X、Y356X화V399V여아국북방지구기본유사.교상견기인돌변F161S、L255S、P281L화R413P여국내기타지구상비차이교대.E280G화A434D위재국제상제2차검출;L255S、P281L、R261Q화165T위재국내제2차검출.신강소수민족야발현료13충PAH기인돌변,균계재본민족중수차보도,기돌변기인적류형표현출선명적민족특색.결론 종대신강지구PAH돌변기인적연구결과 래간,해지적유전기인불부구유독립、보수적특성,이차환존재착상호교차、상호융합적특정.
Objective To study the characteristics of the PAH gene mutation in patients with phenylketonuria(PKU)in Xinjiang area.Methods The mutations in exons 3,5,6,7,11 and 12 and the flanking intronic sequence of the PA H gene were detected by PCR/SSCP analysis and direct DNA sequencing in 46 PKU patients.Results Twenty different mutations were found in 68/92 alleles(73.9%).The prevalent mutations of R243Q,EX6-96A＞G,R111X,Y356X and V399V were similar to that of Northern China populations.The mutations F161S,L255S,P281L,and R413P were significantly different from that in other Chinese populations.It was the second time that E280G and A434D mutations were reported in the world,that L255S,P281L,R261Q,and 165T mutations were found in China.Thirteen different mutations were first found in Chinese Uygur,which showed a distinct ethnic characteristics.Conclusion The study showed not only a distinct and conservative,but also a crossed and syncretic genetic characteristics in Xinjiang Uygur population.The results suggest that Xinjiang could be an ideal genetic resource repertoire for studying diversity of gene mutations,heterogeneity of PAH gene,human origins and migration.
