一种确定生物体样本中染色体数量是否异常的检测方法

• Format: Patent
• Language: Chinese
• Published: 15.11.2022
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

一种确定生物体样本中染色体数量是否异常的检测方法，该方法包括以下步骤：确定每种待检测染色体上需要检测的基因种类的最小数量，选择至少一种参比染色体，确定每种待检测染色体上选定已知数量的基因以及每种参比染色体上选定已知数量的基因的拷贝数；和确定样本中待检染色体的数量，从而确定待检染色体数量是否异常。该方法可以精准、并行地检测多种染色体数量的异常情况，对于无创产前筛查13、18、21号染色体三体综合征和X、Y染色体数量异常等重大需求具有广阔的应用前景。 The invention provides a detection method for determining the abnormality of the chromosome number in biological samples. The method includes the following steps that the minimum quantity of to-be-detected genes on each to-be-detected chromosome is determined, at least one reference chromosome is selected, the genes with the known amount on each to-be-detected chromosome and the copy number of thegenes with the known amount on each reference chromosome are determined; the number of the to-be-detected chromosome in a sample is determined, and thus whether the amount of the to-be-detected chromosome is abnormal is determined. The method can accurately and concurrently detect the abnormalities of multiple chromosomes, and has broad application prospects for noninvasive prenatal screening of