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SM ISO690:2012 BUZA, Anastasia, PARII, Sergiu, BUTOVSCAIA, Cristina, GALEA-ABDUȘA, Daniela, CUROCICHIN, Ghenadie. Frecvența mutației 35delG a genei GJB2 în populația Republicii Moldova. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 47. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | |||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | |||||
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Background. The single-nucleotide guanine deletion 35delG in GJB2 exon 2 is the leading pathogenic mutation for up to 70% of cases of congenital nonsyndromic sensorineural hearing loss (NSHL) among Europeans. The early molecular diagnostic of hearing loss has become a considerable public health issue. Objective of the study. To establish carrier frequency of 35delG deletion in GJB2 gene among patients with severe NSHL as well as among volunteers with normal hearing residents of Republic of Moldova. Material and Methods. 40 patients with congenital bilateral profound NSHL, as well as 300 individuals with normal hearing were examined for deletion 35delG, using Custom TaqMan SNP genotyping Assay. Results. We detected 12 (30%) patients with homozygous genotype for 35delG mutation, 8 patients (20%) with heterozygous form. We also detected 4 (1,33%) individuals of 35delG mutation carriers among the 300 Moldavian individuals with normal hearing. Conclusion. Our results suggest a need of including the 35delG testing into national program of newborn molecular screening. Taking clinical impact into consideration it can be useful to introduce carrier detection in genetic counseling and pregnancy planning. |
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Cuvinte-cheie GJB2, 35delG mutation, nonsyndromic sensorineural eafness, GJB2, mutația 35delG, surditate neurosenzorială nonsindromică |
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