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Rapid detection method of PWS and AS

A detection method and rapid technology, applied in the field of genetic disease gene detection, can solve the problems of complex detection method, slow detection process, long time required, etc., to avoid improper handling, standardize detection process, and ensure the effect of success rate

Inactive Publication Date: 2017-10-13
杭州博圣医学检验实验室有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The above detection method is relatively complicated, takes a long time, and the detection process is slow

Method used

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  • Rapid detection method of PWS and AS
  • Rapid detection method of PWS and AS
  • Rapid detection method of PWS and AS

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0054] A rapid detection method for PWS and AS is carried out according to the following steps:

[0055] 1. Sample collection and transportation requirements (hospital sampling)

[0056]To detect PWS-AS disease at the genetic level, it is necessary to obtain DNA samples, and we extract the genome by collecting blood, amniotic fluid, saliva, and tissues.

[0057] 1.1 EDTA anticoagulation tube collection

[0058] Use EDTA anticoagulant tubes to collect 5 mL of peripheral blood from pregnant women, and immediately invert the mixed blood collection tubes 10 times gently. After mixing, put the blood collection tube upright on the test tube rack and place it at 4°C. Put the EDTA anticoagulant tubes into bubble wrap and pack them independently. Place ice packs wrapped in newspaper on the bottom of the foam box (newspapers need to be wrapped in more layers), and then put the wrapped EDTA anticoagulant tubes in newspaper, foam, etc. Fill the foam box with soft filler, seal the box, ...

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PUM

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Abstract

The invention relates to a rapid detection method of PWS and AS. The PWS / AS is detected by adopting an MS-PCR method. The rapid detection method has the benefits that a DNA sample is treated by using bisulfite to complete within a short time, and meanwhile, the whole operation flow is simpler and more convenient by adopting a method of removing a sulfuric acid group on a column; meanwhile, more details are treated and adjusted, so that a complete set of inspection system is formed; multiple quality control points are set; the rapid detection method is reliable through clinical verification. MS-PCR is a quick and efficient molecular diagnostic method with optimal specificity and sensitivity; meanwhile, the detection cost is lower, and the majority of PWS / AS clinical cases can be diagnosed.

Description

technical field [0001] The invention belongs to the technical field of genetic disease gene detection and relates to a rapid detection method for PWS and AS. Background technique [0002] PWS / AS are two genetic diseases associated with genomic imprinting. Gene defects in the paternal 15q11-13 region lead to Prader-Willi syndrome (PWS), which is clinically manifested as neonatal hypotonia, developmental delay, short stature, Thalamic gonadal dysplasia, etc.; genetic defects in the maternal 15q11-13 region lead to Angelman syndrome (AS). Unbalanced translocations occur between the replicons in the 15q11-13 zone. Since these replicons contain highly conserved sequences that are very important for species survival, the loss of 15q11-13 genetic material will cause developmental delays, language barriers and other clinical symptoms. which performed. [0003] Imprinted genes have differential expression characteristics, and this difference is often modified when the alleles of th...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/686C12Q1/6883C12Q2600/154
Inventor 俞晓敏杨丽萍吴欢罗旌万
Owner 杭州博圣医学检验实验室有限公司
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