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    • 1. 发明申请
    • DESIGN OF STEM-LOOP PROBES AND UTILIZATION IN SNP GENOTYPING
    • SNP基因组中的循环探针设计与利用
    • US20130095474A1
    • 2013-04-18
    • US13272961
    • 2011-10-13
    • JOSEPH MAMONEHoward Gamper
    • JOSEPH MAMONEHoward Gamper
    • C12Q1/68G01N21/64C07H21/04
    • C12Q1/6827C12Q1/6888C12Q2600/156C12Q2600/16C12Q2525/301C12Q2563/107C12Q2563/143C12Q2537/125C12Q2565/501
    • Stem-loop probe for single nucleotide polymorphism (SNP) genotyping of individual SNP nucleic acid target sequences has first, second, and third single stranded nucleic acid portions. Second portion is between the first and third portions. First and third portions build a double stranded, intramolecular stem. Second portion forms a single stranded oligonucleotide loop with a nucleotide sequence, complementary to individual SNP nucleic acid target sequences. The nucleotide sequence of probe is matches probe/target hybrids have a melting point Tm that is at least 5° C. higher than Tm of mismatched probe/target hybrids. A method of detecting SNP in nucleic acid containing samples uses a pair of stem-loop probes for SNP genotyping of two individual SNP nucleic acid target sequences. The probes comprise the same first, second, and third portions and a ratio of perfect match probe/target hybrids to mismatched probe/target hybrids is detected at a certain temperature.
    • 单个SNP核酸靶序列的单核苷酸多态性(SNP)基因分型的茎环探针具有第一,第二和第三单链核酸部分。 第二部分在第一和第三部分之间。 第一和第三部分构建双链,分子内茎。 第二部分形成具有与单个SNP核酸靶序列互补的核苷酸序列的单链寡核苷酸环。 探针的核苷酸序列是匹配探针/靶杂交体具有比错配的探针/靶杂交体的Tm高至少5℃的熔点Tm。 检测含有核酸的样品中的SNP的方法使用一对用于SNP基因分型的两个单个SNP核酸靶序列的茎环探针。 探针包括相同的第一,第二和第三部分,并且在一定温度下检测到完美匹配探针/靶杂交体与错配的探针/靶杂交体的比率。
    • 2. 发明申请
    • PARTIAL GENOTYPING BY DIFFERENTIAL HYBRIDIZATION
    • 通过差异杂交进行部分基因分析
    • US20130183666A1
    • 2013-07-18
    • US13352742
    • 2012-01-18
    • Marc N. FeiglinJoseph MamoneHoward Gamper
    • Marc N. FeiglinJoseph MamoneHoward Gamper
    • C12Q1/68
    • C12Q1/6813C12Q1/6827C12Q2525/151C12Q2525/186
    • In a method of detecting the number of repeat units in a selected short tandem repeat (STR) in a genomic sample, the genomic sample is amplified by PCR and a single stranded target DNA is selected and separated for use in differential hybridization experiments. Subsequent partial genotyping comprises the steps of admixing to the target DNA at least one fluorescent labeled STR probe oligonucleotide and one different fluorescent labeled reference probe oligonucleotide allowing hybridization to the single stranded target DNA in a hybridization experiment. Measurement of the fluorescence intensities of the probes that are bound to the repeat units of the selected STR and normalizing the fluorescence intensity of the STR probes on the base of the reference probe intensity reveals a relative fluorescence signal representing the result of the differential hybridization experiment. Also disclosed are kits for carrying out partial genotyping by differential hybridization.
    • 在基因组样品中选择的短串联重复序列(STR)中检测重复单元数目的方法中,通过PCR扩增基因组样品,并选择并分离单链靶DNA用于差异杂交实验。 随后的部分基因分型包括在杂交实验中将至少一种荧光标记的STR探针寡核苷酸和一种不同荧光标记的参考探针寡核苷酸混合到靶DNA上以允许与单链靶DNA杂交的步骤。 测量与所选STR的重复单元结合的探针的荧光强度并且在参考探针强度的基础上标准化STR探针的荧光强度,显示表示差异杂交实验结果的相对荧光信号。 还公开了用于通过差异杂交进行部分基因分型的试剂盒。
    • 3. 发明申请
    • Cartridge and System for Manipulating Samples in Liquid Droplets
    • 用于操作液滴样品的墨盒和系统
    • US20130020202A1
    • 2013-01-24
    • US13188584
    • 2011-07-22
    • Marc N. FEIGLINJoseph MamoneAnne R. Kopf-SillIan FitzpatrickMark RobPhillip Duncan
    • Marc N. FEIGLINJoseph MamoneAnne R. Kopf-SillIan FitzpatrickMark RobPhillip Duncan
    • G01N27/447B01D57/02
    • B01L3/502738B01L3/502715B01L3/502784B01L3/5029B01L3/523B01L3/527B01L7/52B01L2200/025B01L2200/027B01L2200/04B01L2200/0647B01L2200/141B01L2300/044B01L2300/0672B01L2300/0681B01L2300/0829B01L2300/0864B01L2300/0867B01L2300/0887B01L2300/089B01L2300/161B01L2400/0427B01L2400/043B01L2400/0478B01L2400/0638B01L2400/0683
    • A cartridge (1) comprises a working film (10) for manipulating samples in liquid droplets with an electrode array (20) when the working film (10) of the cartridge (1) is placed on said electrode array (20). The cartridge (1) comprises a body (2,2′,2″) with a number of wells (5) configured to hold therein reagents (6) or samples (6′); a flexibly deformable top structure (7) impermeable to liquids and configured to seal a top side of the wells (5); a piercable bottom structure (8) impermeable to liquids and configured to seal a bottom side of the wells (5); a working film (10) located below a lower surface (4) of the body (2,2′,2″), the working film (10) being impermeable to liquids and comprising a hydrophobic upper surface (11); a peripheral spacer (9,9′,9″) located below the lower surface (4) of the body (2,2′,2″) and connecting the working film (10) to the body (2,2′,2″); a gap (12) between the lower surface (4) of the body (2,2′,2″) and the hydrophobic upper surface (11) of the working film (10), the gap (12) being defined by the peripheral spacer (9,9′,9″); and a number of piercing elements (13) located below piercable bottom structures (8) and configured to pierce the piercable bottom structures (8) for releasing reagents or samples (6,6′) from the wells (5) into the gap (12). Also disclosed is a system (40) with an electrode array (20) onto which the cartridge (1) can be placed.
    • 当药筒(1)的工作薄膜(10)被放置在所述电极阵列(20)上时,墨盒(1)包括用于用电极阵列(20)操纵液滴样品的工作薄膜(10)。 墨盒(1)包括具有多个孔(5)的主体(2,2',2“),其构造成容纳其中的试剂(6)或样品(6'); 柔性可变形顶部结构(7),其不透液体并且构造成密封所述孔(5)的顶侧; 不透液体并且被构造成密封井(5)的底侧的可穿透底部结构(8); 位于主体(2,2',2“)的下表面(4)下方的工作薄膜(10),所述工作薄膜(10)不透液体并包括疏水性上表面(11); 位于主体(2,2',2“)的下表面(4)下方的外围间隔件(9,9',9”),并将工作膜(10)连接到主体(2,2',2“ “); 主体(2,2',2“)的下表面(4)与工作薄膜(10)的疏水性上表面(11)之间的间隙(12),间隙(12)由周边 间隔物(9,9',9“); 以及位于穿孔底部结构(8)下面的多个穿孔元件(13),并被构造成刺穿可穿透底部结构(8),用于将试剂或样品(6,6')从孔(5)释放到间隙(12) )。 还公开了一种具有电极阵列(20)的系统(40),其上可以放置盒(1)。
    • 4. 发明授权
    • Cartridge and system for manipulating samples in liquid droplets
    • 用于操作液滴样品的墨盒和系统
    • US08470153B2
    • 2013-06-25
    • US13188584
    • 2011-07-22
    • Marc N. FeiglinJoseph MamoneAnne R. Kopf-SillIan FitzpatrickMark RobPhillip Duncan
    • Marc N. FeiglinJoseph MamoneAnne R. Kopf-SillIan FitzpatrickMark RobPhillip Duncan
    • C02F1/04C02F11/00C25B9/00C25B11/00C25B13/00G01N27/00
    • B01L3/502738B01L3/502715B01L3/502784B01L3/5029B01L3/523B01L3/527B01L7/52B01L2200/025B01L2200/027B01L2200/04B01L2200/0647B01L2200/141B01L2300/044B01L2300/0672B01L2300/0681B01L2300/0829B01L2300/0864B01L2300/0867B01L2300/0887B01L2300/089B01L2300/161B01L2400/0427B01L2400/043B01L2400/0478B01L2400/0638B01L2400/0683
    • A cartridge (1) comprises a working film (10) for manipulating samples in liquid droplets with an electrode array (20) when the working film (10) of the cartridge (1) is placed on said electrode array (20). The cartridge (1) comprises a body (2,2′,2″) with a number of wells (5) configured to hold therein reagents (6) or samples (6′); a flexibly deformable top structure (7) impermeable to liquids and configured to seal a top side of the wells (5); a piercable bottom structure (8) impermeable to liquids and configured to seal a bottom side of the wells (5); a working film (10) located below a lower surface (4) of the body (2,2′,2″), the working film (10) being impermeable to liquids and comprising a hydrophobic upper surface (11); a peripheral spacer (9,9′,9″) located below the lower surface (4) of the body (2,2′,2″) and connecting the working film (10) to the body (2,2′,2″); a gap (12) between the lower surface (4) of the body (2,2′,2″) and the hydrophobic upper surface (11) of the working film (10), the gap (12) being defined by the peripheral spacer (9,9′,9″); and a number of piercing elements (13) located below piercable bottom structures (8) and configured to pierce the piercable bottom structures (8) for releasing reagents or samples (6,6′) from the wells (5) into the gap (12). Also disclosed is a system (40) with an electrode array (20) onto which the cartridge (1) can be placed.
    • 当药筒(1)的工作薄膜(10)被放置在所述电极阵列(20)上时,墨盒(1)包括用于用电极阵列(20)操纵液滴样品的工作薄膜(10)。 墨盒(1)包括具有多个孔(5)的主体(2,2',2“),所述孔被配置为容纳其中的试剂(6)或样品(6'); 柔性可变形顶部结构(7),其不透液体并且构造成密封所述孔(5)的顶侧; 不透液体并且被构造成密封井(5)的底侧的可穿透底部结构(8); 位于主体(2,2',2“)的下表面(4)下方的工作薄膜(10),工作薄膜(10)不透液体并包括疏水性上表面(11); 位于主体(2,2',2“)的下表面(4)下方的外围间隔件(9,9',9”),并将工作膜(10)连接到主体(2,2' ,2“); 主体(2,2',2“)的下表面(4)与工作膜(10)的疏水性上表面(11)之间的间隙(12),间隙(12)由 外围间隔物(9,9',9“); 以及位于穿孔底部结构(8)下面的多个穿孔元件(13),并被构造成刺穿可穿透底部结构(8),用于将试剂或样品(6,6')从孔(5)释放到间隙(12) )。 还公开了一种具有电极阵列(20)的系统(40),其上可以放置盒(1)。