MOLECULAR ANALYSES USING LONG CELL-FREE FRAGMENTS IN PREGNANCY

• Main Authors: JIANG Peiyong, CHAN Kwan Chee, CHEUNG Yee Ting, CHENG Suk Hang, PENG Wenlei, LO Yuk- Ming Dennis, CHIU Rossa Wai Kwun, YU Cheuk Yin
• Format: Patent
• Language: English; Spanish
• Published: 05.09.2022
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

Methods and systems described herein involve using long cell-free DNA fragments to analyze a biological sample from a pregnant subject. The status of methylated CpG sites and single nucleotide polymorphisms (SNPs) is often used to analyze DNA fragments of a biological sample. A CpG site and a SNP are typically separated from the nearest CpG site or SNP by hundreds or thousands of base pairs. Finding two or more consecutive CpG sites or SNPs on most cell-free DNA fragments is improbable or impossible. Cell-free DNA fragments longer than 600 bp may include multiple CpG sites and/or SNPs. The presence of multiple CpG sites and/or SNPs on long cell-free DNA fragments may allow for analysis than with short cell-free DNA fragments alone. The long cell-free DNA fragments can be used to identify a tissue of origin and/or to provide information on a fetus in a pregnant female. Los métodos y sistemas descritos en la presente implican el uso de fragmentos largos de ADN extracelular circulante para analizar una muestra biológica de una persona gestante. El estado de los sitios de CpG metilados y los polimorfismos de un solo nucleótido (SNP) se usa a menudo para analizar fragmentos de ADN de una muestra biológica. Un sitio CpG y un SNP suelen estar separados del sitio CpG o SNP más cercano por cientos o miles de pares de bases. Es improbable o imposible encontrar dos o más sitios de CpG o SNP consecutivos en la mayoría de los fragmentos de ADN extracelular circulante. Los fragmentos de ADN extracelular circulante de más de 600 pb pueden incluir múltiples sitios de CpG y/o SNP. La presencia de múltiples sitios de CpG y/o SNP en fragmentos largos de ADN extracelular circulante puede permitir un análisis que solo con fragmentos cortos de ADN extracelular circulante. Los fragmentos largos de ADN extracelular circulante pueden usarse para identificar un tejido de origen y/o proporcionar información sobre un feto en una mujer embarazada.