Markers for prenatal diagnosis and monitoring
First Claim
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1. A method for detecting trisomy 21 in a fetus carried by a pregnant woman, comprising the steps of:
- (a) obtaining a biological sample from the woman, wherein the sample is whole blood, serum, or plasma;
(b) determining the methylation status of a CpG-containing genomic sequence in the sample, wherein the genomic sequence from the fetus and the genomic sequence from the woman are differentially methylated, thereby distinguishing the genomic sequence from the woman and the genomic sequence from the fetus in the sample, wherein the genomic sequence is at least 15 nucleotides in length, comprising at least one cytosine, and is within genomic locus Holocarboxylase Synthetase (HLCS) on chromosome 21;
(c) determining the amount of the methylated genomic sequence from the fetus; and
(d) comparing the amount of the methylated genomic sequence from the fetus with a standard control, wherein an increase from the standard control indicates the presence of trisomy 21.
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Abstract
This application provides the use of novel fetal markers for prenatal diagnosis and monitoring of certain pregnancy-related conditions. More specifically, the invention resides in the discovery that certain CpG islands located on fetal chromosome 21 demonstrate a methylation profile that is distinct from that of the corresponding CpG islands located on maternal chromosome 21. This application also provides kits for diagnosing or monitoring of the relevant conditions.
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Citations
27 Claims
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1. A method for detecting trisomy 21 in a fetus carried by a pregnant woman, comprising the steps of:
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(a) obtaining a biological sample from the woman, wherein the sample is whole blood, serum, or plasma; (b) determining the methylation status of a CpG-containing genomic sequence in the sample, wherein the genomic sequence from the fetus and the genomic sequence from the woman are differentially methylated, thereby distinguishing the genomic sequence from the woman and the genomic sequence from the fetus in the sample, wherein the genomic sequence is at least 15 nucleotides in length, comprising at least one cytosine, and is within genomic locus Holocarboxylase Synthetase (HLCS) on chromosome 21; (c) determining the amount of the methylated genomic sequence from the fetus; and (d) comparing the amount of the methylated genomic sequence from the fetus with a standard control, wherein an increase from the standard control indicates the presence of trisomy 21. - View Dependent Claims (2, 3, 4, 5, 6, 7, 27)
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8. A method for detecting trisomy 21 in a fetus carried by a pregnant woman, comprising the steps of:
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(a) obtaining DNA in a biological sample from the woman, wherein the sample is whole blood, serum, or plasma; (b) treating the DNA from step (a) with bisulfite; and (c) performing an amplification reaction using the DNA from step (b) and two primers to amplify a CpG-containing genomic sequence, wherein the genomic sequence is at least 15 nucleotides in length, comprises at least one cytosine, and is within genomic locus Holocarboxylase Synthetase (HLCS) on chromosome 21; and wherein at least one of the two primers binds differentially to the genomic sequence from the fetus; and (d) comparing the amount of the amplified portion of the genomic sequence from step (c) with a standard control, wherein an increase from the standard control indicates the presence of trisomy 21. - View Dependent Claims (9, 10, 11, 12, 13)
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14. A method for detecting trisomy 21 in a fetus carried by a pregnant woman, comprising the steps of:
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(a) obtaining a biological sample from the woman, wherein the sample is whole blood, serum, or plasma; (b) determining the amount of a CpG-containing genomic sequence in the sample, wherein the genomic sequence is at least 15 nucleotides in length, comprises at least one methylated cytosine, and is within genomic locus Holocarboxylase Synthetase (HLCS) on chromosome 21; and (c) comparing the amount of the genomic sequence with a standard control, wherein an increase from the standard control indicates the presence of trisomy 21. - View Dependent Claims (15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26)
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Specification