Molecular approach of auditory neuropathy / Abordagem molecular da neuropatia auditiva
Braz. j. otorhinolaryngol. (Impr.)
;
81(3): 321-328, May-Jun/2015. tab
Article
Dans Anglais
| LILACS
| ID: lil-751902
ABSTRACT
INTRODUCTION:
Mutations in the otoferlin gene are responsible for auditory neuropathy.OBJECTIVE:
To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy.METHODS:
This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism.RESULTS:
The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%).CONCLUSION:
There are differences at the molecular level in patients with and without auditory neuropathy. .RESUMO
INTRODUÇÃO:
Mutações no gene da otoferlina (OTOF) são responsáveis pela neuropatia auditiva.OBJETIVO:
Investigar a prevalência de mutações no gene OTOF em pacientes com e sem neuropatia auditiva.MÉTODO:
Estudo de casos em corte transversal sendo avaliados 16 casos índice com neuropatia auditiva, 13 pacientes com deficiência auditiva sensorioneural (DASN) e 20 indivíduos ouvintes. DNA foi extraído de leucócitos do sangue periférico e regiões do gene OTOF foram analisadas pela técnica PCR-RFLP.RESULTADOS:
Dos 16 casos índice, 9 (56%) são do gênero feminino e 7 (44%) do masculino. Dos 13 pacientes com DASN, 7 (54%) são masculinos e 6 (46%) femininos. Dos 20 ouvintes, 13 (65%) são masculinos e 7 (35%) femininos. Treze (81%) casos índice apresentam o genótipo selvagem (AA) e 3 (19%) o genótipo heterozigoto AG para a mutação IVS8-2A-G (intron 8). A mutação 5473C-G (exon 44) foi encontrada em heterozigose (CG) em 7 (44%) dos casos índice e 9 (56%) apresentam o genótipo selvagem (CC). Destes mutantes, dois (25%) são heterozigotos compostos para as mutações encontradas no intron 8 e exon 44. Os pacientes com DASN e os ouvintes não apresentam mutações (100%).CONCLUSÃO:
Existem diferenças, ao nível molecular, em pacientes com e sem neuropatia audi tiva. .
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Surdité centrale
/
Protéines membranaires
/
Mutation
Type d'étude:
Étude observationnelle
/
Étude de prévalence
/
Facteurs de risque
Limites du sujet:
Adolescent
/
Adulte
/
Adulte très âgé
/
Enfant
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Braz. j. otorhinolaryngol. (Impr.)
Thème du journal:
Otolaryngologie
Année:
2015
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Faculdade de Medicina de São José do Rio Preto/BR
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