Three novel human dystrophin gene STR loci and typing method thereof

Abstract

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 all suitable 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 statistical treatment, 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.

Description

Technical field [0001] The invention relates to a nucleic acid detection method, in particular to three new human dystrophin (DMD) gene STR gene loci and a typing method thereof. Background technique [0002] Short tandem repeats (short tandem repeats, abbreviated as STR) are a type of microsatellite DNA sequence formed by tandem repeats with 2-7 base pairs as the core unit. The fragments can be amplified by PCR technology. STR is mainly due to the change in the number of core repeat units to form the genetic polymorphism of the STR gene locus, and its alleles can be typed by silver staining, fluorescent labeling and autoradiography. In the human genome, there is an STR locus every 6-10kb on average, providing a rich source of high-information locus for forensic personal identification and paternity testing. [0003] STR has the following significant advantages in research and application: good repeatability, stable and reliable typing results, simple and fast operation; fragment ...

AI Technical Summary

Problems solved by technology

However, the linkage analysis method is a probabilistic diagnosis, and the density of STR sites in this gene region is too low, which will lead to erroneous analysis results due to gene recombination

[0007] 2) For new STR loci, there are no standard typing kits and allelic cloning libraries in the world

[0008] 3) International studies on the association between known STR loci and Duchenne muscular dystrophy have not obtained consistent results, that is, no genetic loci that are stably associated with Duchenne muscular dystrophy have been found

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