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公开(公告)号：EP2531618A4
公开(公告)日：2013-09-25
申请号：EP11740443
申请日：2011-02-04
申请人： QUEST DIAGNOSTICS INVEST INC , HANTASH FERAS , SUN WEIMIN , TSAO DAVID C , ROOT DANA MARIE , STROM CHARLES M
发明人： HANTASH FERAS , SUN WEIMIN , TSAO DAVID C , ROOT DANA MARIE , STROM CHARLES M
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q1/683 , C12Q1/6858 , C12Q2600/154 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , G06F19/10 , C12Q2525/151 , C12Q2525/155 , C12Q2525/161 , C12Q2537/16
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公开(公告)号：EP2531618A2
公开(公告)日：2012-12-12
申请号：EP11740443.4
申请日：2011-02-04
申请人： Quest Diagnostics Investments Incorporated , Hantash, Feras , Sun, Weimin , Tsao, David C. , Root, Dana Marie , Strom, Charles M.
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q1/683 , C12Q1/6858 , C12Q2600/154 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , G06F19/10 , C12Q2525/151 , C12Q2525/155 , C12Q2525/161 , C12Q2537/16
摘要： Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5'-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.
摘要翻译： 提供了FMR1基因中存在或不存在CCG重复序列扩增的FMR1基因中CGG重复序列的扩增存在或不存在的方法。 该方法可用于鉴定由于在5'-非翻译区域中CGG重复和CCG重复的扩增，FMR1基因和FMR2基因的正常/中间，相对于前体或全突变等位基因的个体。 该方法还可用于筛选脆性X综合征的新生儿或筛选妇女以确定CCG重复道全部前体的杂合状态。 该方法在估计前遗症和全突变载体频率以及估计人群中FXTAS和FXPOI的患病率方面也很有用。 方法简单，快速，需要少量样品。
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