首页> 外国专利> PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES

PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES

机译:基于甲基化的胎儿样品中胎儿核酸用于甲基化富集的过程和组成

摘要

PROBLEM TO BE SOLVED: To provide processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses.SOLUTION: Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies. The invention provides inter alia human epigenetic biomarkers that are useful for the noninvasive detection of fetal genetic traits, including, but not limited to, the presence or absence of fetal nucleic acid, the absolute or relative amount of fetal nucleic acid, fetal sex, and fetal chromosomal abnormalities such as aneuploidies.SELECTED DRAWING: None
机译:解决的问题:提供用于基于母体样品的甲基化富集胎儿核酸的方法和组合物,用于非侵入性产前诊断。解决方案:提供利用母亲和母亲之间差异甲基化的基因组区域的组合物和方法。她的胎儿从母体样本中分离,分离或富集胎儿核酸。本文所述的组合物和方法可用于非侵入性产前诊断,包括染色体非整倍性的检测。本发明尤其提供了人类表观遗传生物标志物,其可用于非侵入性检测胎儿遗传特征,包括但不限于胎儿核酸的存在或不存在,胎儿核酸的绝对或相对量,胎儿性别,和胎儿染色体异常,如非整倍性。

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