中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
1期
11-15
,共5页
唐利芳%肖冰%徐燕%季星%蒋雯婷%刘晓青%陶炯
唐利芳%肖冰%徐燕%季星%蔣雯婷%劉曉青%陶炯
당리방%초빙%서연%계성%장문정%류효청%도형
脆性X综合征%FMR1基因%AGG排布
脆性X綜閤徵%FMR1基因%AGG排佈
취성X종합정%FMR1기인%AGG배포
Fragile X syndrome%FMR1 gene%AGG interspersion
目的 研究中国正常人群FMR1基因与其不稳定扩增相关的(CGG)n重复序列的多态性及AGG排布式.方法 应用AmplideX(R) FMR1 PCR Kit试剂盒扩增随机选取的380条X染色体,其中男性176例,女性102例,将11例脆性X综合征前突变携带者、10例脆性X综合征全突变患者作为阳性对照,用GeneMapper V4.0软件分析毛细管电泳结果,用SPSS 11.0软件进行数据分析.结果 女性样本杂合子比例为64.70%.在正常男性和女性样本中检测到的等位基因数分别为15和14种,AGG排布式为26和27种,男性(CGG)n重复数范围为17~45,女性为21~44,其中1例为灰区携带者.男性和女性最大频率等位基因数均为29,其次为30、36,(CGG)n重复数为28的等位基因缺如.AGG排布式以9A9A9最常见.在正常人群中,99.21%有不同形式和数目的AGG嵌入,其中6A嵌人模块所占的比例高达10.02%,且多分布在较大的重复数片段中,而57.58%对照样本无AGG嵌入,且无1例患者样本有6A嵌入.正常男性、女性(CGG)n重复数的频数分布、AGG排布式差异均无统计学意义(P>0.05),AGG数目在正常人群与对照间差异有统计学意义(P<0.05).结论 AGG数目及排布式可能对保持中国大陆人群(CGG)n稳定性有重要的意义,9A9A6A9可能为亚洲人群阻止(CGG)n不稳定扩增的一种特殊的排布式.
目的 研究中國正常人群FMR1基因與其不穩定擴增相關的(CGG)n重複序列的多態性及AGG排佈式.方法 應用AmplideX(R) FMR1 PCR Kit試劑盒擴增隨機選取的380條X染色體,其中男性176例,女性102例,將11例脆性X綜閤徵前突變攜帶者、10例脆性X綜閤徵全突變患者作為暘性對照,用GeneMapper V4.0軟件分析毛細管電泳結果,用SPSS 11.0軟件進行數據分析.結果 女性樣本雜閤子比例為64.70%.在正常男性和女性樣本中檢測到的等位基因數分彆為15和14種,AGG排佈式為26和27種,男性(CGG)n重複數範圍為17~45,女性為21~44,其中1例為灰區攜帶者.男性和女性最大頻率等位基因數均為29,其次為30、36,(CGG)n重複數為28的等位基因缺如.AGG排佈式以9A9A9最常見.在正常人群中,99.21%有不同形式和數目的AGG嵌入,其中6A嵌人模塊所佔的比例高達10.02%,且多分佈在較大的重複數片段中,而57.58%對照樣本無AGG嵌入,且無1例患者樣本有6A嵌入.正常男性、女性(CGG)n重複數的頻數分佈、AGG排佈式差異均無統計學意義(P>0.05),AGG數目在正常人群與對照間差異有統計學意義(P<0.05).結論 AGG數目及排佈式可能對保持中國大陸人群(CGG)n穩定性有重要的意義,9A9A6A9可能為亞洲人群阻止(CGG)n不穩定擴增的一種特殊的排佈式.
목적 연구중국정상인군FMR1기인여기불은정확증상관적(CGG)n중복서렬적다태성급AGG배포식.방법 응용AmplideX(R) FMR1 PCR Kit시제합확증수궤선취적380조X염색체,기중남성176례,녀성102례,장11례취성X종합정전돌변휴대자、10례취성X종합정전돌변환자작위양성대조,용GeneMapper V4.0연건분석모세관전영결과,용SPSS 11.0연건진행수거분석.결과 녀성양본잡합자비례위64.70%.재정상남성화녀성양본중검측도적등위기인수분별위15화14충,AGG배포식위26화27충,남성(CGG)n중복수범위위17~45,녀성위21~44,기중1례위회구휴대자.남성화녀성최대빈솔등위기인수균위29,기차위30、36,(CGG)n중복수위28적등위기인결여.AGG배포식이9A9A9최상견.재정상인군중,99.21%유불동형식화수목적AGG감입,기중6A감인모괴소점적비례고체10.02%,차다분포재교대적중복수편단중,이57.58%대조양본무AGG감입,차무1례환자양본유6A감입.정상남성、녀성(CGG)n중복수적빈수분포、AGG배포식차이균무통계학의의(P>0.05),AGG수목재정상인군여대조간차이유통계학의의(P<0.05).결론 AGG수목급배포식가능대보지중국대륙인군(CGG)n은정성유중요적의의,9A9A6A9가능위아주인군조지(CGG)n불은정확증적일충특수적배포식.
Objective To analyze (CGG)n repeats sequence and AGG interspersion correlated with unstable expansion of FMR1 gene in a general Chinese population.Methods AmplideX(R) EMR1 PCR Kit was used to amplify 380 X chromosomes from randomly selected 176 males and 102 females,11 permutation carriers and 10 full mutation patients have served as controls.Results of capillary electrophoresis were analyzed with GeneMapper software Version 4.0.SPSS 11.0 software was used for statistical analysis.Results The ratio of heterozygous females was 64.70%.The number of alleles in general males and females was 15 and 14,the classes of AGG pattern was 26 and 27,respectively.The range of alleles was between 17-45 CGG repeats in males and 21-44 CGG repeats in females,and 1 male was identified as gray zone carrier.The most frequent allele was 29 CGG repeats,which was followed by 30 and 36 repeats,while 28 CGG repeats were absent.The most common AGG pattern was 9A9A9,99.21% of the population was detected with different forms and numbers of AGG interruption,and 6A interruption pattern was found in 10.02% samples especially in individuals with more CGG repeats.However,57.58% of control samples had no AGG interruption,and none of the controls had 6A interruption pattern.No significant difference was observed in allele frequent distribution of (CGG)n repeats and AGG interspersion patterns between the males and females (P > 0.05),and AGGs was significantly different between general population and controls (P<0.05).Conclusion AGGs and AGG pattern may have important roles in maintaining (CGG)n stability in general population of China,9A9A6A9 may be a special pattern for preventing (CGG)n unstable expansion in Asian populations.