کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4114877 1606096 2007 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population: Impact on the newborn hearing screening
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population: Impact on the newborn hearing screening
چکیده انگلیسی

SummaryObjectiveHearing loss is a complex multifactorial disorder caused by genetic and environmental factors. The 35delG mutation in the GJB2 gene is the most prevalent mutation in Caucasian patients with genetic sensorineural deafness. The A1555G mutation in the mitochondrial 12S rRNA is the main genetic alteration associated with aminoglycoside-induced deafness. The aim of this study was to evaluate the prevalence of both mutations in general population of Argentina.MethodsA total of 712 samples of unrelated healthy blood donors and 330 newborn dried blood spots were studied by PCR–RFLP.ResultsThe 35delG mutation was detected in 11/ 712 unrelated blood donors. The carrier frequency found in this sample (1/65) proved to be lower than that found in Southern European countries, mainly Spain and Italy, from where Argentina originally received its major immigration waves. When the populations of Southern Europe were considered altogether, this difference reached statistical significance. The A1555G mutation was not found in any of the 1042 samples tested.ConclusionsTaking into account the 35delG carrier frequency found in this study, it could be estimated that 130–160 children with congenital deafness due to mutations in the connexin genes would be born per year in Argentina. In contrast, the mitochondrial mutation A1555G appears to be infrequent in general Argentinean population.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 71, Issue 4, April 2007, Pages 639–643
نویسندگان
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