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公开(公告)号：EP3056574B1
公开(公告)日：2018-08-22
申请号：EP16151944.2
申请日：2011-02-04
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.
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公开(公告)号：EP2798090B1
公开(公告)日：2018-10-24
申请号：EP12863794.9
申请日：2012-12-27
发明人： STROM, Charles M.
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6881 , C12Q1/6851 , C12Q2600/158 , C12Q2527/137 , C12Q2565/629
摘要： The present invention provides methods for analyzing large nucleic acids including chromosomes and chromosomal fragments. In one aspect, the present invention provides a method of nucleic acid analysis comprising the steps of (a) obtaining a sample of nucleic acid comprising at least one chromosome or fragment greater than about 1000 base pairs in length and containing a target region; (b) creating an emulsion in which each drop of the emulsion contains an average of between about 0-2, 0-1.75, 0-1.5, 0-1.0, 0-0.75, 0-0.5, or fewer chromosomes or fragments of step (a), (c) performing emulsion PCR, (d) quantifying the number of emulsion droplets containing amplified nucleic acid from the target region; (e) calculating the ratio of droplets containing amplified nucleic acid from the target region to total droplets; and (f) comparing the ratio of step (e) to a reference ratio representing a known genotype.
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公开(公告)号：EP2798085B1
公开(公告)日：2018-01-24
申请号：EP12861230.6
申请日：2012-12-28
发明人： BOCK, Chris , AYERS, Deborah , NIKRAD, Malti P. , GAWANDE, Bharat Nathu , BERTINO, Jennifer C. , SUN, Weimin , STROM, Charles M. , PARK, Noh Jin
IPC分类号： C12N15/115 , G01N33/574
CPC分类号： G01N33/57492 , C07H21/04 , C12N15/115 , C12N2310/16 , C12N2310/317 , C12N2310/3513 , C12N2310/3517 , C12N2320/10 , G01N2333/71 , G01N2800/52
摘要： The present invention provides aptamers that specifically bind to the EGF receptor in a sample, and diagnostic and analytical methods using those aptamers. In some embodiments, the aptamers include a 3' cap. In some embodiments, the 3' cap is an inverted deoxythymidine. In some embodiments the aptamers include a spacer and at least one moiety selected from the group consisting of binding pair member and a detectable label, wherein the spacer is attached to the 5'-end of the aptamer and the moiety is attached the 5' end of the spacer. In some embodiments the spacer is hexaethylene glycol. In some embodiments, the binding pair member biotin. In some embodiments the detectable label is a fluorophore.
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公开(公告)号：EP3056574A1
公开(公告)日：2016-08-17
申请号：EP16151944.2
申请日：2011-02-04
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： 提供了用于确定FMR1基因中CGG重复序列扩增的存在或不存在或者FMR2基因中CCG重复序列不扩增的方法。 由于CGG重复序列和CCG重复序列在5'非翻译区的扩增，这些方法可用于鉴定具有正常/中间的个体，相对于FMR1基因和FMR2基因的前突或全突变等位基因。 这些方法也可用于筛查新生儿脆性X综合征或筛查女性以确定杂合性状态，并完全预测CCG重复序列。 该方法也可用于估计前兆和完全突变携带者频率，并估计人口中FXTAS和FXPOI的流行率。 该方法简单，快速，需要少量样品。
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公开(公告)号：EP2798090A1
公开(公告)日：2014-11-05
申请号：EP12863794.9
申请日：2012-12-27
发明人： STROM, Charles M.
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6881 , C12Q1/6851 , C12Q2600/158 , C12Q2527/137 , C12Q2565/629
摘要： The present invention provides methods for analyzing large nucleic acids including chromosomes and chromosomal fragments. In one aspect, the present invention provides a method of nucleic acid analysis comprising the steps of (a) obtaining a sample of nucleic acid comprising at least one chromosome or fragment greater than about 1000 base pairs in length and containing a target region; (b) creating an emulsion in which each drop of the emulsion contains an average of between about 0-2, 0-1.75, 0-1.5, 0-1.0, 0-0.75, 0-0.5, or fewer chromosomes or fragments of step (a), (c) performing emulsion PCR, (d) quantifying the number of emulsion droplets containing amplified nucleic acid from the target region; (e) calculating the ratio of droplets containing amplified nucleic acid from the target region to total droplets; and (f) comparing the ratio of step (e) to a reference ratio representing a known genotype.
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公开(公告)号：EP2798085A1
公开(公告)日：2014-11-05
申请号：EP12861230.6
申请日：2012-12-28
发明人： BOCK, Chris , AYERS, Deborah , NIKRAD, Malti P. , GAWANDE, Bharat Nathu , BERTINO, Jennifer C. , SUN, Weimin , STROM, Charles M. , PARK, Noh Jin
IPC分类号： C12Q1/68
CPC分类号： G01N33/57492 , C07H21/04 , C12N15/115 , C12N2310/16 , C12N2310/317 , C12N2310/3513 , C12N2310/3517 , C12N2320/10 , G01N2333/71 , G01N2800/52
摘要： The present invention provides aptamers that specifically bind to the EGF receptor in a sample, and diagnostic and analytical methods using those aptamers. In some embodiments, the aptamers include a 3' cap. In some embodiments, the 3' cap is an inverted deoxythymidine. In some embodiments the aptamers include a spacer and at least one moiety selected from the group consisting of binding pair member and a detectable label, wherein the spacer is attached to the 5'-end of the aptamer and the moiety is attached the 5' end of the spacer. In some embodiments the spacer is hexaethylene glycol. In some embodiments, the binding pair member biotin. In some embodiments the detectable label is a fluorophore.
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