Molecular combination probe for diagnosing and screening chromosome microdeletion syndrome

A technology of chromosome microdeletion and combined probes, which is applied in the determination/testing of microorganisms, recombinant DNA technology, DNA/RNA fragments, etc., and can solve problems such as difficult diagnosis

Inactive Publication Date: 2013-04-03
FUDAN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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 rel

Method used

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  • Molecular combination probe for diagnosing and screening chromosome microdeletion syndrome
  • Molecular combination probe for diagnosing and screening chromosome microdeletion syndrome
  • Molecular combination probe for diagnosing and screening chromosome microdeletion syndrome

Examples

Experimental program
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Effect test

Embodiment 1

[0048] Common chromosomal diseases and selection of key genes

[0049] refer to http: / / www.ncbi.nlm.nih.gov / sites / GeneTests / Review? db=GeneTests According to the description of the six syndromes of WS, 22Q11, PWS, AS, 15q13.3 microdeletion and Rett syndrome, the key genes or key regions were selected according to the description and relevant published literature reports. If the key genes or key regions have not been identified,

[0050] (1) Design of probe sequence

[0051] The selected target gene sequence is in http: / / genome.ucsc.edu / cgi-bin / hgBlat Obtain and distinguishably mark coding regions, SNPs and repeat sequences.

[0052] For each target gene, the probe consists of a left-half sequence and a right-half sequence. The 3' end is in sequence: phosphate label, right half-probe sequence, and right universal primer sequence. The left and right probe sequences are the same as the target sequence of the target gene, and can be directly linked under the action of ligas...

Embodiment 2

[0058] (1) Negative case control

[0059] Select normal population, QIAgen kit to extract whole genome DNA, conduct MLPA experiment, apply Genemarker Demo version 1.80 software for data analysis. The result is as image 3 shown.

[0060] (2) Positive case control

[0061]Nine cases of 22q11 syndrome were selected and verified by commercialized MLPA kits as patients with 22q11 syndrome as positive controls. After the whole genome DNA was extracted by the QIAgen kit, MLPA experiments were performed, and GenemarkerDemo version 1.80 software was used for data analysis (such as Figure 4 shown).

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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...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
Inventor 马端王慧君朱海涛钱琰琰
Owner FUDAN UNIV
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