Heterozygous-mutation dried-blood-spot positive quality control product applicable to detection of mutant genes of deafness

Abstract

The invention discloses a heterozygous-mutation dried-blood-spot positive quality control product applicable to detection of mutant genes of deafness. The heterozygous-mutation dried-blood-spot positive quality control product is characterized in that DNA fragments containing mutation sites or plasmids containing the DNA fragments are mixed with whole blood to prepare dried blood spots; the mutation sites comprise 11 mutation sites of four genes such as GJB2, GJB3, 12SrRNA and SLC26A4. The heterozygous-mutation dried-blood-spot positive quality control product applicable to detection of mutantgenes of deafness is close to a clinical sample, and has the advantages that the needed blood volume is less, the sample collection is convenient, the biological stability of the sample can be maintained, the biological risk can be reduced, and the transportation and storage are convenient. The heterozygous-mutation dried-blood-spot positive quality control product can be still used normally after being stored for 2 years at the temperature of 4 DEG C, and the detection result can not be influenced.

Description

technical field [0001] The invention relates to the technical field of detection of heterozygous mutation sites of deafness genes, and more specifically, relates to a heterozygous mutation dried blood spot positive quality control product suitable for detection of deafness mutation genes. Background technique [0002] There are 27.8 million hearing-impaired people in my country, accounting for more than one-third of the total disabled population of 82.69 million in the country. The proportion of the normal population carrying the genetic deafness-causing gene is about 6%. About 30,000 hearing-impaired children are born every year. Including patients with delayed-onset deafness, there are more than 60,000 new hearing-impaired children nationwide every year. 50% of the hearing-impaired population is delayed-onset deafness, which cannot be detected by traditional hearing screening. The permanent hearing loss is caused by the stimulation of acquired environmental factors. This p...

AI Technical Summary

Problems solved by technology

There are two methods for the traditional in vitro construction of a plasmid containing a known mutant gene: 1. Directly dilute the recombinant plasmid with a single PCR product that is positive for the mutation to 10 3 Copies / μL is used as a positive quality control product. The quality control product prepared by this method can only cover the insert fragment containing the specific mutation site, but other regions of genomic DNA cannot be covered; 2. Positive with two or more mutations The PCR product recombinant plasmids were mixed in proportion and diluted to 10 3 Copies / μL is used as a positive quality control substance. Although this method can simulate the detection of two or more mutation sites, it cannot cover other regions of genomic DNA; the quality control substances prepared by the above two methods cannot truly simulate human genomic DNA

[0006] Now there is a lack of a positive quality control product that is easy to prepare, has good stability and repeatability, is non-biologically infectious, can monitor the entire detection process, and has reliable results for the heterozygous mutation of the deafness gene.

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