Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment

Li Qi

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Li Qi . Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment[J]. Journal of Kunming Medical University, 2018, 39(05): 7-10.

Citation:

Li Qi . Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment[J]. Journal of Kunming Medical University, 2018, 39(05): 7-10.

Li Qi . Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment[J]. Journal of Kunming Medical University, 2018, 39(05): 7-10.

Citation:

Li Qi . Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment[J]. Journal of Kunming Medical University, 2018, 39(05): 7-10.

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Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment

Li Qi ¹

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基金：国家自然科学基金资助项目 (31060155); 云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目 (2014FB092); 云南省教育厅理工类重点基金资助项目 (2014Z038);

Received Date: 2017-09-21

Abstract

Abstract

Objective To investigate the gene mutations of calcium-and integrin-binding protein 2 (CIB2) 196 C>T, 272 T > C and 297 C > G carried by students with non-syndromic hearing impairment from special educational schools in Yunnan Province. Me thods The experimental group included 337 students with non-syndromic hearing impairment who failed to carry deafness gene with GJB2 (35 del G, 176＿191 del16, 235 del C, 299＿300 del AT) , GJB3 (C538 T, G547 A) , mt DNA 12 S r RNA (A1555 G, C1494 T) , and SLC26 A4 (IVS7＿2 A>G, A2168 G) . The control group consisted with 150 healthy people. Genomic DNA was isolated from peripheral blood with EDTA anti-coagulate. The subject's DNA fragments including CIB2 196 C>T, 272 T > C and 297 C > G were amplified by polymerase chain reaction (PCR) , and subsequently analyzed by direct sequencing to identify deafness-associated mutations. Re s ults Both in the experimental group and control group, we failed to find the mutation of CIB2 196 C>T, 272 T > C and 297 C > G in all individuals. Conclus ion Mutations in CIB2 gene 196 C>T, 272 T > C and 297 C > G are not a frequent cause of non-syndromic hearing loss among deaf people in Yunnan province. It provided important information for deafness with formulating landscape of gene screening in this region.
- Deafness,
- CIB2 gene,
- DNA,
- Mutation,
- Sequencing

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References(16)

References

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