Deafness gene screening chip

Abstract

The invention discloses a deafness gene screening chip, which includes a solid phase carrier and an oligonucleotide probe fixed thereon. Nucleotide sequences of the oligonucleotide probe are represented as the Seq ID No.1-1152. The deafness gene screening chip is suitable for Chinese people, wherein most of deafness mutation detection loci are reported among Chinese people and comprise the most common eight hot-spot mutation. The screening chip has following advantages: (1) high-throughput: the screening chip contains 384 detection loci; (2) wide coverage: the screening chip covers mitochondria and 46 different deafness genes located on autosomes, which includes 240 deafness mutation loci and 144 SNP loci, wherein the deafness mutation loci includes 200 non-syndrome deafness loci and 40 common syndrome deafness loci; and (3) high sensitivity and specificity: a direct sequencing test proves the GJB2-1-BP-DEL-235C detection locus is 96.3% in sensitivity and is 100% in specificity.

Description

technical field [0001] The invention relates to a deafness gene screening chip in the field of gene chips. Background technique [0002] Deafness is the most common sensory neurological disease. It is not only a disease that causes hearing disability and affects human physical and mental health, but also brings great inconvenience to patients' communication in life, family, work and study. At the same time, deafness has also brought a heavy burden to society. According to reports, 250 million people worldwide suffer from moderate or greater hearing loss. Before the age of 5, the prevalence rate of sensorineural deafness was 2.7, and it increased to 3.5 in adolescence. One newborn in every 500 newborns had bilateral permanent sensorineural hearing loss above 40dBHL. About 30,000 congenitally deaf children are born in China every year. According to the second national sample survey of disabled people in 2006, there are about 20.04 million hearing disabled people in my count...

AI Technical Summary

Problems solved by technology

Third, the clinical phenotype of hereditary deafness is complex

Fourth, the existing genetic diagnosis methods are limited

[0012] (2) The screening coverage is small: the detection range is narrow, which cannot meet the comprehensive screening of hereditary deafness in the Chinese population

[0013] (3) Functional limitations: the chip can only conduct independent result analysis on the individual tested, and cannot realize the linkage analysis of the family

[0014] (4) The operation process is complicated: in order to prevent the interaction between some primers, multiple allele-specific PCR is carried out in two tubes

In addition, in practice, 1% to 5% of the test results are difficult to distinguish. The most common problem is that it is difficult to distinguish homozygous mutations from heterozygous mutations. This is mainly due to non-specific PCR amplification or hybridization, which requires repeated DNA templates. Quantity, PCR reaction system, hybridization system, primers and probe sequences were adjusted

[0016] (6) There are limitations in further improvement: the fluorescent labeling method and asymmetric allele-specific PCR technology currently used in this chip limit the further development of the chip

[0022] (2) The user population is not clear: it does not meet the mutation spectrum of the Chinese population, and cannot be used as a comprehensive screening for hereditary deafness in the Chinese population

[0023] (3) Functional limitations: the chip can only conduct independent result analysis on the individual tested, and cannot realize the linkage analysis of the family

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