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Human chromosome 15q11-13 genetic variation detection kit and application thereof

A detection kit and a technology for genetic variation, applied in the determination/inspection of microorganisms, biochemical equipment and methods, etc., can solve the problems of lack of detection tools, etc., and achieve the effect of good typing map, balanced amplification, and avoiding pollution

Inactive Publication Date: 2018-04-20
SHANGHAI CHROMYSKY MEDICAL RES
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] The practical difficulty faced by current molecular diagnostic strategies is that there is still a lack of detection tools that can simultaneously perform 15q11-13 microdeletion and uniparental diploid linkage analysis

Method used

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  • Human chromosome 15q11-13 genetic variation detection kit and application thereof
  • Human chromosome 15q11-13 genetic variation detection kit and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0045] Example 1: Preparation of genomic DNA from human blood samples

[0046] Test samples were donated by volunteers with informed consent. According to medical routine, 1 mL of peripheral venous blood was collected and anticoagulated with EDTA. Genomic DNA was extracted using the Human Peripheral Blood Genome Extraction Kit from QIAGEN, with an elution volume of 100 microliters, quantified using a UV spectrometer, and the concentration of genomic DNA was diluted to 1 ng / μL.

Embodiment 2

[0047] Embodiment 2: PCR system preparation

[0048] Prepare the PCR reaction system according to the following system (the total reaction system is 20 μL):

[0049] 2×PCR reaction master mix 10μL

[0050] Primer mix 2 μL

[0051] Sample DNA template 1 μL

[0052] wxya 2 O 7μL

[0053] Take out the primer composition container and the PCR reaction mother solution container from the kit. According to the total number of reactions multiplied by the individual reaction requirements in the above reaction system, the required amount of PCR reaction mother solution, primer composition amount, PCR reaction auxiliary liquid amount and ddH 2 O amount, mix the above reagents evenly in a 1.5mL EP tube, divide and number each PCR reaction tube 19 μL, then add 1 μL of the sample DNA template according to the sample number, and mix again.

Embodiment 3

[0054] Embodiment 3: PCR reaction

[0055] ABI 9700 PCR instrument was used for PCR reaction.

[0056] The PCR conditions are as follows: 95°C for 10 minutes after starting, 95°C for 30 seconds, 60°C for 60 seconds, 72°C for 60 seconds, a total of 30 cycles, then 72°C for 60 minutes, and then 4°C for incubation.

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Abstract

The invention belongs to the technical field of in-vitro human nucleic acid detection, and particularly relates to a human chromosome 15q11-13 genetic variation detection kit and application thereof.A multiplex PCR amplification system for simultaneously amplifying 16 STR loci distributed on a human chromosome 15 is firstly designed, and a PCR amplification primer set is as follows: SEQ ID No.1-SEQ ID No.32; a genotyping detection kit comprises a primer composition container and a PCR reaction mother solution container; the primer composition container contains a composition stock solution ofprimers SEQ ID No. 1-SEQ ID No. 32. Single-tube amplification of the 16 STR loci is achieved, the STR loci in each fluorescence channel and in different fluorescence channels are amplified in a balanced manner, and a typing pattern is good; in addition, the cost, the manpower and the time can be significantly reduced, and the working efficiency can be improved.

Description

technical field [0001] The invention belongs to the technical field of in vitro detection of human nucleic acid, in particular to the detection of the genotypes of highly polymorphic STR loci in human genome DNA, and in particular to a method for detecting 16 STR loci on human chromosome 15 by multiple polymerase chain reaction. A detection kit for genotyping and genetic linkage analysis of STR loci and its application. Background technique [0002] Prader-Willi syndrome (Prader-Willi syndrome, PWS, OMIM# 176270), also known as hypotonia-low intelligence-hypogonadal development-obesity syndrome, children with feeding difficulties and slow growth during the neonatal period , generally starting from about 2 years old to eat unrestrainedly, which leads to continuous weight gain and severe obesity, motor and language developmental delay, and mental retardation. Angelman syndrome (Angelman syndrome, AS, OMIM# 105830), also known as "Happy Puppet Syndrome", is characterized by se...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6858
CPCC12Q1/6858C12Q2537/143C12Q2531/113
Inventor 周巍金云舟
Owner SHANGHAI CHROMYSKY MEDICAL RES
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