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Method for detecting deficiency of 7q11.23

An analysis method and sequence technology, applied in the field of molecular biology, to achieve the effect of reducing operation steps, high accuracy and shortening detection cycle

Inactive Publication Date: 2017-07-21
SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, there is no report on the detection method of the 7q11.23 deletion of the present invention

Method used

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  • Method for detecting deficiency of 7q11.23
  • Method for detecting deficiency of 7q11.23

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0027] Embodiment 1 detection method

[0028] 1. Materials and Instruments

[0029] Rotor-Gene Q real-time fluorescent quantitative PCR analyzer (qiagen), Klentaq enzyme (Ab Peptides), LCgreen fluorescent dye (BioFire Defense), primers (Shanghai Sangong Biotechnology), blood DNA extraction samples from patients with Williams–Beuren syndrome (7q11. 23 long fragment deletion), healthy human blood DNA extraction samples (no deletion of 7q11.23).

[0030] 2. Method

[0031] 1. Primer design: Four genes were selected in the deletion-prone region of 7q11.23, which were located at the proximal end of the region (BAZ1B), near the centromere end (CLIP2) and in the middle (ELN, LIMK1). Primers were designed for these four genes as the target genes, so that they can specifically amplify the amplicons of 58-88bp. At the same time, primers were designed using the stable 2-copy gene CFTR outside the 7q11.23 region as a control gene, and the length of the amplicon was 54bp. The Tm values...

Embodiment 2

[0039] Verification of embodiment 2 detection method

[0040] The detection method of Example 1 and the Affymetrix gene chip were used to detect and analyze the blood DNA extraction samples of unknown 7q11.23 deletion, and clinical observation was carried out. The results were compared, and the accuracy rate was 100%.

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Abstract

The invention relates to a method for detecting deficiency of 7q11.23 on the basis of limited dNTP (Diethyl-Nitrophenyl Thiophosphate) competitive PCR (Polymerase Chain Reaction) and HRM. According to the method, a CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene is adopted as a reference gene, and copy numbers of genes BAZ1B, CLIP2, ELN and LIMK1 are detected. The invention further provides a primer combination, a kit and the like related to the method. The method has the advantages that the method is implemented under a same reaction condition, detection can be implemented simultaneously by using one PCR tester, only 79 minutes are taken from PCR amplification to HRM detection, and the detection period can be shortened. Pipe opening operation is not needed after PCR amplification, and operation steps and possible pollution can be reduced. Appropriate genes are selected, proper primer sequences are designed, and PCR reaction systems and procedures are set reasonably. The method provided by the invention is very high in accuracy, and has great advantages in 7q11.23 micro deficiency detection and large-scale population screening.

Description

technical field [0001] The invention relates to the technical field of molecular biology, in particular to a detection method for 7q11.23 deletion. Background technique [0002] Williams–Beuren syndrome [OMIM 194050] is an inherited disorder of mental retardation affecting 1 in 7500 live births. Williams–Beuren syndrome is caused by a microdeletion of the gene in the 11.23 (7q11.23) region of the long arm of chromosome 7, and the length of the deletion is about 1.5Mb to 1.8Mb. Among them, 96% of patients had deletion of ELN gene. According to the clinical manifestations and characteristics, patients with this syndrome can be initially diagnosed, and the detection of the 7q11.23 deletion fragment is an important basis for the diagnosis of the disease. [0003] The earliest method used to detect 7q11.23 deletion fragments is fluorescence in situ hybridization (FISH). This method has a short test cycle and intuitive effects, but requires good experimental equipment and techno...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/686C12Q1/6883C12Q2600/156C12Q2527/107C12Q2537/143C12Q2563/107
Inventor 傅启华张立辰张晓青游国岭
Owner SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
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