32 results about "Dmd gene" patented technology

The present disclosure provides, among other things, improved compositions and methods for treating muscular dystrophy. For example, the disclosure provides methods for treating Duchenne muscular dystrophy patients having a mutation in the DMD gene that is amenable to exon 51 skipping by administering an effective amount of eteplirsen.

The present disclosure provides, among other things, improved compositions and methods for treating muscular dystrophy. For example, the disclosure provides methods for treating Duchenne muscular dystrophy patients having a mutation in the DMD gene that is amenable to exon 45 skipping by administering an effective amount of casimersen.

The invention discloses three novel human dystrophin (DMD) gene STR gene loci and a typing method thereof, which is characterized in that the three DMD gene STR loci are respectively positioned in the 60th, the 30th and the second introns of the DMD gene and are respectively DXSDMD-in60, DXSDMD-in30 and DXSDMD-in2; and the locus fragments of the three gene STR loci have moderate sizes and are allsuitable for PCR amplification. The invention selects 15 novel candidate STR sequences of the DMD gene from NCBI, uses gene typing and DNA sequence analysis and definition, studies the allele frequency distribution of the genetic structure of DMD gene STR in health populations, and obtains the DNA typing results in the health populations of the Han nationality in Xi'an city. Proven by statisticaltreatment, the polymorphic information contents of the three STR loci in the studied populations are all larger than 0.60, and the three STR loci can be used in population genetics and medicolegal practice and provide a theoretical basis for the gene diagnose and molecular mechanism study of Duchenne muscular dystrophy disease.

The invention discloses a test kit of preimplantation embryonic genetics diagnosis and prenatal diagnosis for DMD, which comprises a DMD gene linked SNP site capture probe group, the DMD gene linked SNP site refers to 199 or more SNPs sites which are within 2M of the upstream and downstream of the DMD gene and have high mutation frequency in people. The probe group in the test kit disclosed by theinvention can be used for rapidly and accurately capturing the DMD gene and the DMD gene linked SNP at the same time, and the detection specificity and accuracy of the DMD preimplantation embryonic genetic diagnosis can be improved.

The invention discloses a nucleotide sequence for repairing DMD gene mutation and a system. A gene editing system is capable of knocking out a Dystrophin genomic region between the 31792310th site andthe 31854834th site, or between the 31747866th site and the 31838091th site, or between the 31747866th site and the 31854834th site of an X chromosome, and preferably, the gene editing system is capable of knocking out a Dystrophin genomic region between the 31815201th site and the 31846518th site, between the 31769972th site to the 31815200th site, or the 31769972th site to the 31846518th site of the X chromosome. The geneediting system can target to more than 17% of DMD patients, including EX51 (deficiency) 4%, EX50 (deficiency) 13%, EX45-50 (deficiency), EX48-50 (deficiency), EX50 (deficiency), EX51 (deficiency), EX52 (deficiency) and EX50 or EX51 exon area point mutation and other forms of mutations, and the adaptability is higher.

The invention discloses a method and a system for accurately analyzing a DMD gene structural variation breakpoint. The method includes steps of receiving of fragment sequences, initial comparison, repeat comparison, position analysis, analysis of suspected breakpoint, and in-depth correction; through the method, the type and the breakpoint position of DMD gene copy number variation can be accurately analyzed; the mean detection bias rate is less than 4 bp; the accuracy is high, and the stability is good; besides, the method and the system can cover the variation detection of an exon and an introne at the same time, solve the shortcoming that the breakpoint of the gene copy number variation cannot be accurately analyzed in the prior art, and provide technical support for realizing the rapid and parallel DMD breakpoint detection service and the study of the DMD structure gene variation molecular mechanism.

The invention discloses a probe and a kit for detecting pseudo-hypertrophic muscular dystrophy. The probe for detecting pseudo-hypertrophic muscular dystrophy comprises nucleic acid sequences shown by SEQ NO:1-SEQ ID NO:546, and the kit for detecting pseudo-hypertrophic muscular dystrophy comprises nucleic acid sequences shown by SEQ ID NO:1-SEQ ID NO:546. The probe and the kit for detecting pseudo-hypertrophic muscular dystrophy can be used for detecting complete mutation information of DMD genes, including exon deletion / repetition and point mutation, have the advantages of completeness, rapidness, accuracy and appropriate price, and can be used for solving the problems of DMD molecular diagnosis; the kit disclosed by the invention is suitable for detection of various tissue samples of muscle, blood, amniotic fluid and the like, can detect pathogenic mutation of exons and introns as well as known mutations and unreported pathogenic mutations, and is also used for detecting whether patient genotypes are corrected or not after stem cell therapy.