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Method for diagnosing myotonic dystrophy type 1

A technology of muscular dystrophy and diagnosis method, which is applied in the field of diagnosis of myotonic dystrophy type 1, and can solve problems such as no preventive method

Inactive Publication Date: 2015-12-16
SAMSUNG LIFE PUBLIC WELFARE FOUND +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Myotonic dystrophy type 1 is a genetic disease, and there is no more effective preventive method other than prevention before pregnancy or early pregnancy, and it is necessary to secure a diagnostic method for myotonic dystrophy type 1

Method used

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  • Method for diagnosing myotonic dystrophy type 1
  • Method for diagnosing myotonic dystrophy type 1
  • Method for diagnosing myotonic dystrophy type 1

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0061] Example 1: Screening examination for myotonic dystrophy type 1 in pregnant women or female subjects of childbearing age

[0062] Prepare deoxyribonucleotide samples

[0063] Diagnosis of myotonic dystrophy type 1 was performed on pregnant women or women of childbearing age at Yonsei University Gangnam Seifrans Hospital (Seoul, Korea), and blood samples were collectively collected from the above-mentioned subjects for diagnosis. According to the manufacturer's protocol, the "High Pure PCR Template Preparation Kit (High Pure PCR Template Preparation Kit)" of Roche was used to separate deoxyribonucleotides from the above blood samples, and the extracted deoxyribonucleosides The acid is kept refrigerated at -20°C until inspection.

[0064] polymerase chain reaction

[0065] In order to confirm the number of CTG repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene, polymerase chain reaction was performed using deoxyribonucleotides isolated fr...

Embodiment 2

[0102] Example 2: Screening examination for fetal myotonic dystrophy type 1

[0103] Preparation of deoxyribonucleotide samples and diagnostic test method

[0104] The pregnant women judged positive in the above-mentioned Example 1 were used as subjects for the diagnosis of myotonic dystrophy type 1, and samples of chorion, amniotic fluid or umbilical cord blood of the pregnant women were collected for diagnosis.

[0105] Gene scanning analysis by polymerase chain reaction, blot hybridization, and CTG sequence for confirming the number of CTG repeat sequences at the 3'-UTR site of the myotonic dystrophy protein kinase gene were performed in the same manner as in Example 1 above. Repeat the primer-polymerase chain reaction.

[0106] Screening for myotonic dystrophy type 1 fetuses

[0107] ①In the genetic scanning analysis of the fetus, if no allele with an increase in the number of repeats at the 3'-UTR site of the myotonic dystrophy protein kinase gene to more than 35 times ...

Embodiment 3

[0112] Example 3: Screening examination for neonatal myotonic dystrophy type 1

[0113] Preparation of deoxyribonucleotide samples and diagnostic test method

[0114] Diagnosis of myotonic dystrophy type 1 was carried out on neonates born or hospitalized at Yonsei University Gangnam Seifrans Hospital (Seoul, Korea), and blood samples were collected collectively from the above-mentioned subjects for diagnosis.

[0115] Gene scanning analysis by polymerase chain reaction, blot hybridization, and CTG sequence repeat primers for confirming the number of CTG repeat sequences at the 3'-UTR site of the myotonic dystrophy protein kinase gene were performed in the same manner as in Example 1 above polymerase chain reaction.

[0116] Screening of newborns with myotonic dystrophy type 1

[0117]①In the gene scanning analysis of newborns, the number of repeats at the 3'-UTR site of the myotonic dystrophy protein kinase gene is less than 34 times, and two peaks are observed, and both all...

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Abstract

The present invention relates to a method for diagnosing myotonic dystrophy type 1 or a method for identifying myotonic dystrophy type 1 patients by using a computer processor. The method of the present invention is an early diagnosis method of a genetic disorder having no effective prevention method except prevention in the early months of pregnancy, and can be applied to a method for diagnosing various dominant or recessive genetic disorders in which a specific repeating base sequence of a specific gene is abnormal. According to the method of the present invention, it is possible to take suitable measures related to symptoms, which will occur later, by classifying a genetic carrier and first to third risk groups according to the repetition number of the CTF sequence of 3'-noncoding region of the DDMPK gene. Particularly, the method of the present invention numerically provides a genetic carrier or the approximate prevalence of a disease with respect to an unborn baby, thereby allowing the risk of disorders to be accurately understood.

Description

technical field [0001] This patent application was filed with the Korean Intellectual Property Office on April 18, 2013, and is the priority of Korean Patent Application No. 10-2013-0042873, the entire contents of which are hereby incorporated by reference. [0002] The present invention relates to a method for diagnosing myotonic dystrophy type 1. Background technique [0003] Myotonic dystrophy type 1 is the most frequently occurring hereditary muscle disease among Koreans, and is an autosomal dominant genetic disease characterized by myotonia and active weakness. Above-mentioned disease has the feature (HarperPSetal., DGM.Myotonic dystrophy, inEngelAG, Franzini-ArmstrongC(eds): Myology( ed3). In. New York: NY, McGraw Hill Professional, 2004: 1039-76). According to the gene of origin, it is divided into myotonic dystrophy type 1 and myotonic dystrophy type 2 (DMtype1, 2, DM1, DM2). In the 3' untranslated region of the chromosome 19 gene that encodes myotonic dystrophy p...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11G16B20/20
CPCC12Q2600/156G16B20/00C12Q1/6883G16B20/20C12N15/11C12Q1/6813C12Q1/6869C12Q2600/112C12Q2600/16C12Q2600/172
Inventor C·S·池
Owner SAMSUNG LIFE PUBLIC WELFARE FOUND
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