Method for detecting 22q11.2 copy number deletion

A copy number and gene copy number technology, applied in the field of molecular biology, to achieve the effect of reasonable program setting, reduced cost input and low cost
CN106319079AActive Publication Date: 2017-01-11SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
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Patent Information

Authority / Receiving Office
CN Β· China
Current Assignee / Owner
SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
Publication Date
2017-01-11

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Abstract

The invention provides a method for detecting 22q11.2 copy number deletion by limited dNTP (deoxyribonucleotide triphosphate) competitive (polymerase chain reaction) in combination with an HRM (high resolution melt) technique. The method comprises the step of detecting CLTCL1, SNAP29, KLHL22, PI4KA and CFTR genes. The invention also provides a primer combination and kit of the method. The method is simple and quick to operate, and only comprises the processes of PCR reaction and subsequent HRM analysis, thereby shortening the detection period. The method implements closed pipe operation; and since fluorescent dyes are added in the PCR, HRM curve analysis can be performed without other treatments after the detection segment amplification is completed, thereby effectively avoiding the pollution. In the reaction, only conventional PCR reagents and small amounts of fluorescent dyes are needed, and special detection and analysis apparatuses are not needed. The detection on 99 patients and normal person control samples indicates that the sensitivity and specificity respectively reach 100%, and the stability and accuracy of the system are confirmed.
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Description

technical field

[0001] The invention relates to the technical field of molecular biology, in particular to a method for detecting 22q11.2 copy number deletion by using limited dNTP competitive PCR combined with HRM technology. Background technique

[0002] 22q11.2 microdeletion syndrome is the most common clinical genetic syndrome, which is caused by deletion of 22q11.21-q11.23 microfragment near the centromere in the long arm of chromosome 22. Its core region is located between the low-copy repeat sequence LCR22-A to LCR22-D on the 22q11.2 region, with a size of 3Mb. About 90% of the syndrome patients show an overall deletion of one copy of this fragment, and some patients have different Combinations of deletions among low-copy repeats. According to the clinical manifestations and characteristics, patients with this syndrome can be initially diagnosed, and the detection of the 22q11.2 deletion fragment is an important basis for the diagnosis of the disease.

[0003] At pr...

Claims

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