Combination probe for screening multiple anomalysyndrome

Abstract

The invention belongs to the technical field of biology, and relates to a combination probe for screening multiple anomalysyndrome, and in particular relates to combination probe for screening the multiple continuous probe amplification of the multiple anomalysyndrome. The combination probe is used for selecting the key gene of the 1p36 microdeletion syndrome, the Sotos syndrome, the 18 down syndrome, the CHARGE syndrome, the Williams Beuren syndrome, the 22q11 microdeletion / duplication syndrome, the 21 down syndrome, the Smith Magenis syndrome, the 13 down syndrome, the Cri du Chat syndrome, the Prader Willi syndrome, the WolfHirschhorn syndrome and the 17q21.31 microdeletion 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 synthesize the combination probe for the multiple continuous probe amplification. The probe can be used for preliminarily screening the multiple anomalysyndrome.

Description

technical field [0001] The invention belongs to the field of biological technology, and relates to a probe for screening multiple malformation syndromes, in particular to a combined probe for multiple continuous probe amplification for screening multiple malformation syndromes. The probe can be used for preliminary screening of multiple malformation syndrome. Background technique [0002] Congenital malformation (CA) refers to morphological or structural abnormalities that exist at birth; including single malformations (such as cleft lip, polydactyly, etc.) and multiple congenital malformations (MCA). Studies have found that there are a variety of multiple deformities that are specifically combined under the action of a certain cause and become a deformity syndrome. At present, more than 250 malformation syndromes have been identified and diagnosed in medicine; however, due to the obvious specificity and imbalance in the phenotypes of multiple malformation syndromes, it is ...

AI Technical Summary

Problems solved by technology

At present, more than 250 malformation syndromes have been recognized and diagnosed in medicine; however, due to the obvious specificity and imbalance in the phenotypes of multiple malformation syndromes, it is difficult to achieve accurate diagnosis only by clinical

[0003] With the continuous development of molecular genetic detection technology for the genetic etiology of MCA; in the 1970s, chromosome G-banding technology found microscopic chromosomal abnormalities such as deletions, duplications, translocations, and inversions, but traditional optical microscopy was not effective for abnormal chromosome structures. The maximum resolution is 5-10Mb, and the high-resolution banding technology is only 3-5Mb, so the diagnostic rate is still less than 5%

[0004] At present, the above-mentioned syndromes are usually diagnosed by the method of detecting genome copy number variation in medicine; this method has the following defects: karyotype analysis can only detect duplications / deletions larger than 5Mb; quantitative PCR, with low throughput, is not suitable for multiple sites The screening test of the array platform; the chip test of the Array platform, the cost is significantly higher than that of MLPA, and it is not suitable for the screening of large sample size

Images