中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2008年
12期
1344-1347
,共4页
余伍忠%仇东辉%宋昉%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%宋昉%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%突变
苯丙酮尿癥%苯丙氨痠羥化酶%突變
분병동뇨증%분병안산간화매%돌변
Phenylketonurias%Phenylalanine hydroxylase%Mutation
目的 探讨新疆少数民族苯丙酮尿症(PKU)患者的基因突变特征,为有针对性的防治策略提供科学依据.方法 采用单链构象多态性分析技术和PCR产物直接测序方法 ,检测12例少数民族PKU患者的苯丙氨酸羟化酶(PAH)基因突变.结果 从12例维吾尔族、回族和哈萨克族PKU患者(24个PAH等位基因)中,检出13种基因突变,包括错义突变8种、无义突变1种、剪切位点突变3种,其中突变频率最高的是EX6-96A＞G和P281L,EX6-96A＞G常见于国内和亚洲地区,P281L多见于欧洲各地.突变频率较高的R243Q、R111X、R176X和F161S 4种突变中,其中R243Q是我国北方地区居首位的突变,R111X处于第3位.而R176X和F161S在世界范围内都极为少见,尤其F161S是具有中国特色的基因突变,是第2次在中国人中发现.结论 新疆少数民族中的PAH突变基因不仅与亚洲黄种人和欧洲及拉美人种表现出密切的联系,而且也存在着明显的差异,形成了自身独立的遗传规律和特点,是我国一个十分特殊的PAH突变基因分布区域.
目的 探討新疆少數民族苯丙酮尿癥(PKU)患者的基因突變特徵,為有針對性的防治策略提供科學依據.方法 採用單鏈構象多態性分析技術和PCR產物直接測序方法 ,檢測12例少數民族PKU患者的苯丙氨痠羥化酶(PAH)基因突變.結果 從12例維吾爾族、迴族和哈薩剋族PKU患者(24箇PAH等位基因)中,檢齣13種基因突變,包括錯義突變8種、無義突變1種、剪切位點突變3種,其中突變頻率最高的是EX6-96A＞G和P281L,EX6-96A＞G常見于國內和亞洲地區,P281L多見于歐洲各地.突變頻率較高的R243Q、R111X、R176X和F161S 4種突變中,其中R243Q是我國北方地區居首位的突變,R111X處于第3位.而R176X和F161S在世界範圍內都極為少見,尤其F161S是具有中國特色的基因突變,是第2次在中國人中髮現.結論 新疆少數民族中的PAH突變基因不僅與亞洲黃種人和歐洲及拉美人種錶現齣密切的聯繫,而且也存在著明顯的差異,形成瞭自身獨立的遺傳規律和特點,是我國一箇十分特殊的PAH突變基因分佈區域.
목적 탐토신강소수민족분병동뇨증(PKU)환자적기인돌변특정,위유침대성적방치책략제공과학의거.방법 채용단련구상다태성분석기술화PCR산물직접측서방법 ,검측12례소수민족PKU환자적분병안산간화매(PAH)기인돌변.결과 종12례유오이족、회족화합살극족PKU환자(24개PAH등위기인)중,검출13충기인돌변,포괄착의돌변8충、무의돌변1충、전절위점돌변3충,기중돌변빈솔최고적시EX6-96A＞G화P281L,EX6-96A＞G상견우국내화아주지구,P281L다견우구주각지.돌변빈솔교고적R243Q、R111X、R176X화F161S 4충돌변중,기중R243Q시아국북방지구거수위적돌변,R111X처우제3위.이R176X화F161S재세계범위내도겁위소견,우기F161S시구유중국특색적기인돌변,시제2차재중국인중발현.결론 신강소수민족중적PAH돌변기인불부여아주황충인화구주급랍미인충표현출밀절적련계,이차야존재착명현적차이,형성료자신독립적유전규률화특점,시아국일개십분특수적PAH돌변기인분포구역.
Objective To study the mutation characteristics in phenylalanine hydroxylase gene of Xinjiang minority nationality phenylketonuria (PKU) patients and provide a scientific basis for PKU prevention and cure strategy.Methods Mutations in phenylalanine hydroxylase gene were detected by Dolymerase chain reaction-single strand comformation polymorphism (PCR/SSCP) and gene sequencing in 12 minoritv nationality patients.Results Thirteen different mutations,including 8 missense mutations,1 nonsense mutation and 3 splice mutations were found in 24 alleles.The moat common mutations were EX696A＞G and P281 L.which were respectively prevalent in Asia and Europe populations.The common mutations were R243Q,R111X,R176X and F161S.The mutation frequency of R243Q was the highest and R111X was the third highest in Northern China.R176X and F161S were two rare mutations world wide.Especially.F161S was a Chinese-specific mutation because it was for the second time that it was found in China.The mutations detected in this study were first reported in these 3 minority nationality populations,which showed a distinct ethical characteristic.Condusions There is not only a consanguineous relation but also a distinct difference in PAH gene distribution between Xinjiang minority nationality population and yellow race and Latin-American.The results suggest that Xinjiang could probably be a special PAH gene distribution region.
