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Mutation type and mutation frequency of hereditary hearing loss gene SLC26A4 in Chinese crowd and usage of mutation type

A technology of hereditary deafness and mutation type, applied in the field of tr, can solve problems such as protein structure and function impact

Inactive Publication Date: 2009-06-03
韩东一 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0029] Mutations in the UTR region do not directly cause amino acid changes, but may affect the structure and function of the protein through regulation

Method used

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  • Mutation type and mutation frequency of hereditary hearing loss gene SLC26A4 in Chinese crowd and usage of mutation type
  • Mutation type and mutation frequency of hereditary hearing loss gene SLC26A4 in Chinese crowd and usage of mutation type
  • Mutation type and mutation frequency of hereditary hearing loss gene SLC26A4 in Chinese crowd and usage of mutation type

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Experimental program
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Effect test

Embodiment 1

[0079] The inventor first reported in China that 3 cases of patients with sporadic large vestibular aqueducts were screened for SLC26A4 gene, and one case was found to be heterozygous for the G316X mutation, and two cases were homozygous for IVS7-2A>G, and then detected in two large vestibular aqueduct families The mutation of SLC26A4 gene preliminarily confirmed the correlation between SLC26A4 gene and large vestibular aqueduct.

[0080] In this study, according to our previous findings in 38 cases of large vestibular aqueduct from 35 families, the mutation of SLC26A4 gene IVS7-2A>G is a high-frequency mutation in Chinese large vestibular aqueduct syndrome, accounting for 10% of the total number of mutations. This mutation can be found in 63.5%, 71.9% of patients with large vestibular aqueduct, and 1% of normal people carry this heterozygous mutation.

[0081] Therefore, for this specific mutation, we designed a series of diagnostic screening methods and tools. Through this s...

Embodiment 2

[0083]In order to understand the mutation status of SLC26A4 gene in Chinese severe-very severe deafness population and its relationship with deafness, on the basis of the above research, we launched a nationwide screening of SLC26A4 gene hotspot mutation regions, and detected single heterozygous Carriers of combined mutations are further screened and sequenced to find additional mutations that may exist. The screening method includes designing multiple PCR primers or kits according to conventional methods based on the aforementioned possible 86 mutation types of the SLC26A4 gene. PCR or multiplex PCR testing or sequencing. The subjects of the study were patients with bilateral severe-profound deafness, selected from Beijing, Shanghai, Mudanjiang of Heilongjiang Province, Jilin of Jilin Province, Datong of Shanxi Province, Anyang of Henan Province, Gaobeidian and Zhuozhou of Hebei Province, Foshan of Guangdong Province, Liuzhou of Guangxi Zhuang Autonomous Region , Fuzhou in Fu...

Embodiment 3

[0087] According to the above research results, we designed three sets of qualitative gene chips, namely

[0088] Chipset A: Contains two mutation sites, IVS7-2A>G and A2168G;

[0089] Chipset B: Contains 13 mutation sites including IVS7-2A>G, A2168G, A1174T, C1229T, T2027A, IVS15+5G>A, G589A, A1238G, T1826G, C281T, G1226A, C1336T, 1548insC;

[0090] Chipset C: Contains IVS7-2A>G, A2168G, A1174T, C1229T, T2027A, IVS15+5G>A, G589A, A1238G, T1826G, C281T, G1226A, C1336T, 1548insC, G1975C, G259T, T279A, G6659T, C110319T, C118del , C1225T, G1595T, 1299_1300insC, C2162T, 1339_1340delA, C1343A, 1687_1693insA, C2167G and other 27 mutation sites.

[0091] Three sets of gene chips were used to detect 58 patients with vestibular aqueduct enlargement (a total of 95 mutant alleles were detected by sequencing of the SLC26A4 gene coding region), and the results are as follows:

[0092] chip

Group sample

number allele

factor The detected SLC26A4

number of mutant...

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Abstract

The invention relates to 86 types of particular mutation type atlases of SLC26A4 gene related to hearing loss in Chinese crowd, 27 types of relative hot-spot mutation type atlases and frequency information thereof, 13 types of hotspot mutation type atlases and frequency information thereof, and 2 types of hottest-spot mutation type atlases and frequency information thereof. 59 SLC26A4 gene mutation types are newly discovered in the Chinese crowd, wherein, 47 mutation types lead to the change of encoded protein amino acid of the SLC26A4 gene or influence genetic transcription and translation, 6 mutation types lead to base change rather than the change of amino acid, and 6 types are intron mutation types of the SLC26A4 gene. The discovery has a vital practical significance in developing an SLC26A4 gene diagnosing chip and a kit, which conform to hereditary features of the Chinese crowd suffering hearing loss.

Description

Background technique [0001] The SLC26A4 gene was first discovered by Everett et al. in a family with an autosomal recessive genetic disease - Pendred syndrome (large vestibular aqueduct or with inner ear malformation, neurological deafness and goiter), and later Usami et al. SLC26A4 gene screening was carried out, and mutations in this gene were also found. The SLC26A4 gene, also known as the PDS gene (Pendred syndrome, PDS), is located on human chromosome 7q31, contains 21 exons, and encodes the protein Pendrin containing 780 amino acids. The full length of SLC26A4 gene mRNA is 4930bp (SEQ ID NO: 1), and the open reading frame is 2343bp. The open reading frame of SLC26A4 gene started from exon 2 and distributed across the remaining 20 exons. Except exon 21 (2380bp), the length of other exons is about 55-231bp. Only some of the bases in exon 21 are involved in encoding amino acids, and the rest are not involved in protein encoding. Functionally, they belong to the 5'UTR reg...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12Q1/68
Inventor 戴朴袁永一韩东一
Owner 韩东一
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