Novel chromosome microdeletion/microduplication syndrome detection system and kit

Abstract

The invention discloses a novel chromosome microdeletion / microduplication syndrome detection system which mainly comprises 643 pairs of probes, multiplex PCR (polymerase chain reaction) amplification primers and correlation detection reaction reagents. The detection process comprises the following steps: hybridizing a probe set with target nucleic acid in the sample; connecting the hybridized probe; amplifying the connecting probe; and detecting the amplification product to determine the existence or quantity of the target nucleic acid in the sample. The platform can implement systematic screening and detection on 24 chromosome aneuploids, 24 chromosome telomere abnormities, more than 70 chromosome microdeletion / microduplication syndromes and multiple monogenic disease mutation hot spots at one time by using the optimized probe set and reaction system. Compared with the existing like detection techniques (such as MLPA and the like), the detection system covers nearly all definite pathogenic regions with abnormal number of copies in the DECIPHER database, has the advantages of wide detection range, high detection precision and low cost, and is simple to operate.

Description

technical field [0001] The invention relates to the field of chromosome detection, in particular to a new detection system and kit for chromosome microdeletion / microduplication syndrome. Background technique [0002] According to the "Global Birth Defects Report" released by the United States in 2006, it is estimated that the number of new birth defects in the world exceeds 8 million every year, and 90% of them occur in low- and middle-income countries. my country is a country with a high incidence of birth defects, and there are as many as 800,000 to 1,200,000 children with birth defects each year, accounting for about 4-6% of the annual birth population. As a public health and social issue that affects the quality of the Chinese nation, basic and applied research on the prevention of birth defects has become a major topic of priority in population health science research. [0003] With the advancement of medical technology, some diseases with non-genetic factors have been...

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Problems solved by technology

At present, there is a lack of high-throughput, high-precision, low-cost, and automated screening and detection technologies for known genetic causes. This patent is to alleviate the urgent need for clinical application

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