STR locus of PKD1 gene and application thereof

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., and achieve the effect of good compatibility and rich selection range

Active Publication Date: 2017-01-04
THE INT PEACE MATERNITY & CHILD HEALTH HOSPITAL OF CHINA WELFARE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0016] The present invention aims to solve the technical problem that the detection efficiency of the STR site of the PKD1 gene is not high due to the disadvantages of a long distance from the PKD1 gene, high recombination rate, and low heterozygosity, and provides a new STR site of the PKD1 gene with higher resolution. site, the new STR site is used for linkage genetic analysis of the PKD1 gene, which can effectively improve the efficiency and accuracy of typing recognition

Method used

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  • STR locus of PKD1 gene and application thereof
  • STR locus of PKD1 gene and application thereof
  • STR locus of PKD1 gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0033] Example 1 Screening out 2 new STR sites of PKD1 gene

[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) Combining literature, biological databases and bioinformatics predictions, according to the sequence characteristics of actual STRs, two STRs predicted by bioinformatics were screened out and named as T16S0002 and T16S0004. The STR site sequence of T16S0002 is shown in SEQ ID NO.1, and the STR site sequence of T16S0004 is ...

Embodiment 2

[0041] Example 2 STR new site sample verification

[0042] The newly screened 2 STR loci (T16S0002, T16S0004) were combined with 7 commonly used gene loci D16S521 (SEQ ID NO.3), D16S3024 (SEQ ID NO.4), D16S3395 (SEQ ID NO.5), D16S291 (SEQ ID NO.6), D16S664 (SEQ ID NO.7), D16S418 (SEQ ID NO.8), Amelogenin (Amelo X: SEQ ID NO.9; Amelo Y: SEQ ID NO.10) combination, using two Two individual samples were detected by one-step multiplex fluorescent PCR technology.

[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 volu...

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Abstract

The invention discloses an STR locus of a PKD1 gene. The STR locus has a nucleic acid sequence shown by SEQ ID NO.1 or SEQ ID NO.2. The invention also discloses an application of the STR locus of the PKD1 gene, wherein the STR locus is applied to the preplantation genetile diagnosis or prenatal diagnosis of autosomal dominant polycystic kidney. With higher resolution, the STR locus of the PKD1 gene disclosed by the invention is applied to the linkage heredity analysis of the PKD1 gene, can be used for remarkably improving the typing recognition efficiency and accuracy, and provides a basis for clinical preplantation genetile diagnosis of autosomal dominant polycystic kidney.

Description

technical field [0001] The invention relates to the technical field of clinical molecular diagnosis, in particular to an STR site of a PKD1 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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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/11C12Q1/68
Inventor 徐晨明陈松长黄荷凤张军玉白彩虹
Owner THE INT PEACE MATERNITY & CHILD HEALTH HOSPITAL OF CHINA WELFARE INST
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