Molecular combination probe for diagnosing and screening chromosome microdeletion syndrome

Abstract

The invention belongs to the technical field of biology, and particularly relates to a molecular combination probe for diagnosing and screening chromosome microdeletion syndrome. The molecular combination probe is used for selecting the key gene of the Williams syndrome, the 22q11 microdeletion syndrome, the Prader-Willi syndrome, the Angelman syndrome, the 15q13.3 microdeletion syndrome and the Rett syndrome, or the gene within a critical area, or the gens arranged at two ends within a duplication / deletion fragment, selecting the sequence which meets a corresponding condition as a probe sequence according to the sequence of the gene, and adding a general primer sequence and adding a phosphorylation mark to the 5'end of a probe left-half sequence and the 3'end of a right-half probe to prepare the combination probe for the multiple continuous probe amplification technology. According to the combination probe provided by the invention, the defects of the fluorescent quantitative PCR (polymerase chain reaction) can be overcome, a plurality of sequences can be analyzed for once, and the molecular combination probe is higher in resolution ratio, sensitivity and repeatability. The probe can be used for the clinical molecular diagnosing and screening of the six-chromosome microdeletion syndrome.

Description

technical field [0001] The invention belongs to the field of biological technology, and relates to a molecular probe for chromosome microdeletion syndrome, in particular to a molecular combination probe for diagnosis and investigation of chromosome microdeletion syndrome. The probe can be used for diagnosis and screening of 6 common chromosomal microdeletion syndromes. Background technique [0002] According to medical research reports, chromosomal microdeletion syndromes, especially the six common chromosomal microdeletion syndromes are: Williams syndrome (Williams Syndrome, WS), 22q11 microdeletion syndrome (22q11 deletion syndrome, 22q11DS), Prader-Willi Syndrome (PWS), Angelman syndrome (AS), 15q13.3 microdeletion syndrome and Rett syndrome (RTS); currently, the clinical diagnosis of the above microdeletion syndromes mainly depends on clinical manifestations and related laboratory and imaging examinations, among which FISH examination is the gold standard for genetic di...

AI Technical Summary

Problems solved by technology

[0015] The molecular combination probe of the present invention is a probe that can be used in the MLPA experimental method, and can be aimed at the chromosomal microdeletion syndrome (Williams syndrome, 22q11 microdeletion syndrome, which is relatively difficult to be clinically diagnosed solely on the phenotype and related to mental development). syndrome, Prader-Willi syndrome, Angelman syndrome, 15q13.3 microdeletion syndrome, and Rett syndrome) for cost-effective and rapid screening

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