Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCR

2007 ◽  
Vol 364 (2) ◽  
pp. 153-158 ◽  
Author(s):  
Carmen Cañadas ◽  
Ana Sánchez-de-Abajo ◽  
Juan Manuel Fernández ◽  
Miguel Martín ◽  
Eduardo Diaz-Rubio ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Specific Pcr ◽  
Allele Specific ◽  
Allele Specific Pcr

scholarly journals Single Nucleotide Polymorphisms of theGJB2andGJB6Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Ana Paula Grillo ◽  
Flávia Marcorin de Oliveira ◽  
Gabriela Queila de Carvalho ◽  
Ruan Felipe Vieira Medrano ◽  
Sueli Matilde da Silva-Costa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Single Nucleotide Polymorphisms ◽  
Autosomal Recessive ◽  
Nucleotide Polymorphisms ◽  
Nonsyndromic Hearing Loss ◽  
Single Nucleotide ◽  
Specific Pcr ◽  
Sequence Variations ◽  
Allele Specific ◽  
Allele Specific Pcr

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. TheDFNB1locus, which contains theGJB2andGJB6genes, 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 theDFNB1locus 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 theGJB2andGJB6genes may have an influence on ARNSHL in humans.

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