STR sites of PKD2 gene and application of STR sites of PKD2 gene

A locus and gene technology, applied in the field of clinical molecular diagnosis, can solve the problems of low detection efficiency, long distance, low heterozygosity, etc.

Active Publication Date: 2017-01-04
苏州天昊医学检验实验室有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0014] The present invention aims to solve the technical problem that the detection efficiency of the STR site of the PKD2 gene is not high due to the disadvantages of a long distance from the PKD2 gene, high recombination rate, and low het

Method used

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  • STR sites of PKD2 gene and application of STR sites of PKD2 gene
  • STR sites of PKD2 gene and application of STR sites of PKD2 gene
  • STR sites of PKD2 gene and application of STR sites of PKD2 gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0033] Embodiment 1 screens out the new STR site of 6 PKD2 genes

[0034] 1. STR prediction

[0035] (1) Use the biological public database to check and organize STR information (database refers to NCBI http: / / www.ncbi.nlm.nih.gov / database before November 2011), and obtain NCBI reported STR information;

[0036] (2) Bioinformatics predicts STR, and obtains several loci with repeating unit 2bp repeating times more than 10 times;

[0037] (3) Compare the number of repetitions of these STR sites in the three genomes (refercese, HuRef, Celera) in the NCBI database, and obtain information on STR sites with large differences in the number of repetitions;

[0038] (4) Combined with the literature, biological database and bioinformatics prediction, according to the sequence characteristics of the actual STR, 6 STRs predicted by bioinformatics were screened out, and named as T4S0005 (SEQ ID NO.1), T4S0006 (SEQ ID NO. ID NO.2), T4S0008 (SEQ ID NO.3), T4S0009 (SEQ ID NO.4), T4S0012 (SE...

Embodiment 2

[0041] Example 2 STR new site sample verification

[0042] The newly screened 6 STR loci (T4S0005, T4S0006, T4S0008, T4S0009, T4S0012, T4S0014) were combined with 4 common gene loci D4S395 (SEQ ID NO.7), D4S2929 (SEQ ID NO.8), D4S414 ( SEQ ID NO.9), Amelogenin (Amelo X: SEQ ID NO.10; Amelo Y: SEQ ID NO.11) combination, using two-step multiplex fluorescent PCR technology to detect two individual samples.

[0043] The specific experimental steps are as follows:

[0044] (1) DNA sample preparation

[0045] Blood was collected from two selected sample individuals in the hospital; the DNA samples were extracted through DNA extraction kits, and 1 μl of 1% agarose electrophoresis was taken for quality inspection and concentration estimation of the samples, and then the samples were diluted to The working concentration is 5-10ng / μl.

[0046] (2) PCR reaction

[0047] Take 1ul samples for PCR reaction.

[0048] The total volume of the PCR reaction system is 10 μl (1 μl 10×PCR buff...

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Abstract

The invention discloses STR sites of a PKD2 gene. The STR sites are selected from nucleotide sequences as show in SEQ ID NO.1-SEQ ID NO.6. The invention also discloses an application of the STR sites of the PKD2 gene, wherein the STR sites are applicable to preimplantation genetic diagnosis or prenatal disgnosis of autosomal dominant polycystic kidney disease. The STR sites of the PKD2 gene are higher in resolution ratio; and the STR sites, when applied to linkage genetic analysis of the PKD2 gene, can significantly improve typing recognition efficiency and accuracy; therefore, a basis is provided for the clinical preimplantation genetic diagnosis of the autosomal dominant polycystic kidney disease.

Description

technical field [0001] The invention relates to the technical field of clinical molecular diagnosis, in particular to an STR site of a PKD2 gene and an application thereof. Background technique [0002] Autosomal dominant polycystic kidney disease (Autosomal dominant polycystic kidney disease, ADPKD) is one of the most common monogenic diseases in humans, with an incidence of about 0.1%. Its main clinical feature is the formation of multiple liquid vesicles in both kidneys, and the progressive growth of the cysts, resulting in damage to the structure and function of the kidneys. By the age of 60, about 50% of patients develop end-stage renal failure, accounting for about 100% of end-stage renal failure. 10% of causes of functional failure. In addition to kidney changes, patients with polycystic kidney disease can also affect multiple organs of the body, such as liver, pancreas, spleen cysts, intracranial aneurysms, and hypertension. Another scholar believes that it is rela...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/68
Inventor 徐晨明陈松长黄荷凤张军玉白彩虹
Owner 苏州天昊医学检验实验室有限公司
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