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Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss
المؤلفون المشاركون
Grillo, Ana Paula
de Oliveira, Flávia Marcorin
de Carvalho, Gabriela Queila
Medrano, Ruan Felipe Vieira
da Silva-Costa, Sueli Matilde
de Oliveira, Camila Andréa
Sartorato, Edi Lúcia
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-05-17
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Single nucleotide polymorphisms (SNPs) are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases.
The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss.
Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated.
The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL).
The SNPs rs3751385 (C/T), rs7994748 (C/T), rs7329857 (C/T), rs7987302 (G/A), rs7322538 (G/A), rs9315400 (C/T), rs877098 (C/T), rs945369 (A/C), and rs7333214 (T/G) were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR.
There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P<0.05).
No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098.
Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Grillo, Ana Paula& de Oliveira, Flávia Marcorin& de Carvalho, Gabriela Queila& Medrano, Ruan Felipe Vieira& da Silva-Costa, Sueli Matilde& Sartorato, Edi Lúcia…[et al.]. 2015. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss. BioMed Research International،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055040
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Grillo, Ana Paula…[et al.]. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss. BioMed Research International No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1055040
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Grillo, Ana Paula& de Oliveira, Flávia Marcorin& de Carvalho, Gabriela Queila& Medrano, Ruan Felipe Vieira& da Silva-Costa, Sueli Matilde& Sartorato, Edi Lúcia…[et al.]. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055040
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1055040
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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