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A set of detection primers, detection kits and detection methods for detecting genetic syndromes based on str technology

A technology for detecting primers and syndromes, which is applied in the field of detection primers for detecting genetic syndromes, and can solve problems such as low resolution, low efficiency, and poor repeatability

Active Publication Date: 2018-09-25
GUANGDONG WOMEN & CHILDREN HOSPITAL
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  • Claims
  • Application Information

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Problems solved by technology

[0011] In order to solve the problems of low resolution, poor repeatability, cumbersome operation and low efficiency of methylated PCR-agarose electrophoresis technology, the object of the present invention is to provide a set of detection primers, detection kits and methods for detecting genetic syndromes based on STR technology. Its detection method

Method used

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  • A set of detection primers, detection kits and detection methods for detecting genetic syndromes based on str technology
  • A set of detection primers, detection kits and detection methods for detecting genetic syndromes based on str technology
  • A set of detection primers, detection kits and detection methods for detecting genetic syndromes based on str technology

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Experimental program
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Embodiment 1

[0073] The PWS and AS positive control DNAs of the present invention are the peripheral blood genomic DNAs of clinical PWS and AS patients.

[0074] The detection primers used are as follows:

[0075]

[0076] 1. EDTA or sodium citrate anticoagulant tubes were used to collect 1 mL of peripheral venous blood from children with PWS, children with AS, and parents, respectively;

[0077] 2. Using a kit (Lab-Aid 820 Nucleic Acid Extraction Mini Reagent, purchased from Xiamen Zhishan Biotechnology Co., Ltd.) or an automatic nucleic acid extraction instrument (Lab-Aid 820 Nucleic Acid Extractor, purchased from Xiamen Zhishan Biotechnology Co., Ltd. ) to extract the collected peripheral venous blood genomic DNA of children and parents and measure the DNA concentration, 260 / 280 and 260 / 230, to ensure that the nucleic acid concentration is 30-150ng / μL, and the purity is OD 260 / 280 =1.7~2.0;

[0078] 3. Prepare multiple fluorescent PCR reaction system as follows:

[0079] System (1...

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Abstract

The invention discloses a detection primer based on the STR technology and used for detecting a genetic syndrome, a detection kit and a detection method of the detection kit. Based on existing research, six common STR loci and 3 standby STR loci are selected from chromosomal regions 15q11-13 with diseases, a multi-fluorescence PCR technology is used for detecting allele situation of a child patient in the regions, and possible mutation situations can be effectively found with the combination of detection of corresponding loci of the father or mother of the child patient in the regions. To improve the detection accuracy, more STR loci than that in previous methods are selected, the high-definition technology of capillary electrophoresis is used for replacing the agarose electrophoresis technology, the resolution ratio is increased, and repeatability is improved.

Description

Technical field: [0001] The invention belongs to the field of gene diagnosis, and in particular relates to a set of detection primers, a detection kit and a detection method for detecting genetic syndromes based on STR technology. Background technique: [0002] Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two genetic syndromes associated with genome imprinting, with an incidence of about 1 / 22,000 to 1 / 10,000. The main clinical manifestations of PWS patients are obesity, mental retardation, hypotonia, and hypogonadism; Angelman syndrome mainly manifests as special facial features and mental retardation. Although the incidence of these two diseases is not high, each child will bring a heavy burden to the family and society. The former is often accompanied by increasingly serious obesity, metabolic syndrome, inability to take care of themselves and mental retardation, while the latter is They accompany their daily life with an angelic smile but cannot take care o...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6858C12Q1/6883C12N15/11
CPCC12Q1/6858C12Q2531/113C12Q2537/143C12Q2563/107C12Q2565/125
Inventor 张彦尹爱华丁红珂王继成刘舒
Owner GUANGDONG WOMEN & CHILDREN HOSPITAL