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Isolated nucleic acids encoding popdc1 mutants and uses thereof

A mutant and nucleic acid technology, which is applied in the field of biotechnology and can solve problems such as difficulty in statistics on the incidence of LGMD

Active Publication Date: 2020-08-07
石家庄华大医学检验实验室有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

It is precisely because the symptoms of LGMD are very changeable, and some symptoms are similar to other muscle diseases, the incidence of LGMD is difficult to count

Method used

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  • Isolated nucleic acids encoding popdc1 mutants and uses thereof
  • Isolated nucleic acids encoding popdc1 mutants and uses thereof
  • Isolated nucleic acids encoding popdc1 mutants and uses thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0095] Methods for identifying mutated genes for limb-girdle muscular dystrophy, as follows:

[0096] 1. Sample collection

[0097] In this example, samples from 4 families in different regions were collected, and there were patients with limb-girdle muscular dystrophy in each family. Among them, the patient information in the family is as follows:

[0098] No. 1 family, the family picture is as follows Figure 2A As shown, the family is a family from the Calabria region in southern Italy, which shows pseudo-dominant inheritance, and the family originated from a small town in the Albanian enclave with a population of about 3000. The grandfather was a patient, and he had 2 brothers and 7 sisters with normal phenotypes; one of the sisters had two grandchildren with similar symptoms, and both parents believed that they were not consanguineous. Among them, the specific conditions of the patients are as follows

[0099] Patient Ⅰ1, whose grandfather suffered from limb-girdle mu...

Embodiment 2

[0123] Due to a certain degree of false positives in exome sequencing, this example uses the Sanger sequencing method to verify the mutation sites of the POPDC1 gene found in the 4 families in Example 1. The specific method is as follows:

[0124] Using the 4 families in Example 1, the Sanger method was used to verify the pathogenic mutation sites of limb-girdle muscular dystrophy, including designing primers for the No. 3 and No. 4 exons of the POPDC1 gene and the sequences around them, and amplifying The relevant sequence of the POPDC1 gene was obtained by means of amplification, product purification and sequencing, and the correlation between POPDC1 and the patient's clinical phenotype was verified according to whether the sequence determination result was mutant or wild type. Specific steps are as follows:

[0125] 1. DNA extraction

[0126] Peripheral venous blood was collected from two brothers of patients in family No. 1, their parents and grandfather, patient II 2 fro...

Embodiment 3

[0141] Carry out gene interaction analysis on the mutation gene detection results of No. 2, No. 3 and No. 4 families detected in Example 1. The specific analysis content is as follows:

[0142] In the analysis of the No. 2 family, the inventor detected the missense mutation of the LMNA gene (c.1070A>C, p.D357A) in the form of heterozygosity in patient Ⅱ2 and its diseased patients by using clinical exome analysis. sister and a healthy son, while LMNA mutations and another subtype were found to be associated with DCM (dilated cardiomyopathy) in similar cases.

[0143] In family No. 3, the inventors used clinical exome analysis to detect 4 heterozygous missense mutations in the following four genes: SDHA (R465Q), DSP (I1216V), and TTN (G33394D and S35939T), a total of Segregation analysis showed that these mutations were inherited from mother I2. In family No. 4 from Italy, the SDHA mutation was predicted to be a deleterious mutation according to the Polyphen software, and the fr...

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Abstract

The invention discloses a POPDC1 gene mutant and an application thereof, and more specifically relates to isolated nucleic acid coding the POPDC1 mutant, isolated polypeptide, a system for screening a biological sample predisposed to limb-girdle muscular dystrophy, a kit used for screening the biological sample predisposed to limb-girdle muscular dystrophy, and a method for constructing a medicine screening model. Compared with SEQ ID NO:1, the isolated nucleic acid coding the POPDC1 mutant comprises at least one of c.602C>T mutation, c.515G>A mutation, c.385C>T mutation, and c.427A>G mutation. By detecting whether the new mutant exists in the biological sample or not, whether the biological sample is predisposed to limb-girdle muscular dystrophy symptom or not can be effectively detected.

Description

technical field [0001] The present invention relates to the field of biotechnology, specifically, to an isolated nucleic acid encoding a POPDC1 mutant and applications thereof, more specifically, to an isolated nucleic acid encoding a POPDC1 mutant, an isolated polypeptide, and screening for susceptible limb-girdle muscular dystrophy A system for biological samples of the disease, a kit, a construct, a recombinant cell, and a method for constructing a drug screening model for screening biological samples of predisposed limb-girdle muscular dystrophy. Background technique [0002] Limb-girdle muscular dystrophy (LGMD) is a group of diseases characterized clinically by varying degrees of weakness or atrophy of the shoulder girdle and pelvic girdle muscles. The most common type other than Becker's dystrophy (DMD / BMD). [0003] The age of onset of LGMD can vary widely, ranging from infancy to age 50, and affects both men and women. The first symptoms are often pelvic girdle an...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C07K14/47C12M1/34C12Q1/6883C12N5/10
Inventor 张建国亚历山大·费利利方明艳蒋慧徐讯王俊
Owner 石家庄华大医学检验实验室有限公司
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