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Molecular Genetic Analysis of the Mitochondrial DNA 1555 Mutation Gene among Nonsyndromic Hearing Impairment Patients from Jilin Province

Author: ChenJinXia
Tutor: ZhangGuiRu
School: Jilin University
Course: Clinical
Keywords: Non - syndromic deafness mtDNA Gene mutation Screening Restriction endonuclease analysis
CLC: R764.43
Type: Master's thesis
Year: 2007
Downloads: 56
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Abstract


Objective: To study the characteristics of the etiology of the deaf population in Jilin Province, to examine the region's non-syndromic deafness mitochondrial genome (mtDNA) 12SrRNA A1555G mutation frequency, etiology research and to establish the corresponding gene diagnosis and gene therapy method provides new theoretical basis, and to provide scientific guidance for the development of the measures of prevention and treatment of drug-induced deafness. Methods: 129 cases of deaf students of the school for the deaf in Changchun City mtDNA A1555G mutation screening of the gene. Selected 129 cases of deaf students by the detailed questionnaire, general physical examination and pure tone audiometry, all confirmed patients with non-syndromic deafness (NSHI). Deafness in patients with peripheral venous blood collected extract leukocyte DNA by polymerase chain reaction (polymerase chain reaction, PCR) amplification of mtDNA target fragment, and then to the restriction endonuclease Alw26I detected mtDNA A1555G mutation. Results: 129 cases are detected NSHI students, 73 boys and 56 girls, aged 7 to 20 years of age, with an average age of 13.4 years old. The age of onset is mainly before 3 years of age, from birth to 3 years of age accounted for 86.0% incidence. 37 cases the initially identified deafness as AmAn NSHI patients, accounting for 28.7%. Sample of 129 cases of NSHI cases and 10 normal control samples, were obtained by PCR amplification of specific DNA target fragment of 463bp PCR amplification products after the restriction endonuclease Alw26I digested digestion and agarose gel electrophoresis, three cases digested positive, two cases explicitly deaf before AmAn application history, and one cases no clear medication history, and remaining 126 cases NSHI patients and 10 normal controls were samples digested negative, suggesting that the three cases in patients with mtDNA A1555G mutation. Inferred, the the region NSHI deafness patients mtDNA A1555G mutation frequency was 2.33%, mtDNA A1555G by AmAn deafness of NSHI of patients mutation frequency of 5.41%, both lower than the national average. Conclusion: 1, aminoglycoside ototoxicity induced deafness are important causes of non-syndromic deafness in Jilin Province. The region NSHI patients mtDNA A1555G mutation frequency of 2.33%, the deafness of AmAn ototoxicity NSHI patients of mtDNA of A1555G detection rate of 5.41%, both lower than the national average. MtDNA A1555G mutation screening of the gene causes the incidence of hearing impaired patients to understand the region, has an important significance for the prevention of drug-induced deafness. High-risk groups or specific populations the the mtDNA A1555G mutant gene screening, and AmAn to susceptible individuals to provide early diagnosis, early intervention and genetic counseling, can reduce the incidence of drug-induced deafness.

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CLC: > Medicine, health > Otorhinolaryngology > Otology,ear disease > Ear nervous system diseases > Deaf
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