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An improved diagnostic test for rod cone dysplasia 1 (rcdl) using allele-specific polymerase chain reaction

Authors :
Maria D. Lara Tejero
Gustavo D. Aguirre
Kunal Ray
Victoria J. Baldwin
Source :
Current Eye Research. 15:583-587
Publication Year :
1996
Publisher :
Informa UK Limited, 1996.

Abstract

Purpose. To develop an improved diagnostic test for rod-cone dysplasia type 1 (rcdl). The rcdl phenotype is an early onset, autosomal recessive disease caused by a mutation in the canine rod cyclic GMP phosphodiesterase (β-subunit (PDE6B) gene. A G to A transition in codon 807 at nucleotide position 2420 results in a stop codon. This is the only disease causing mutation detected so far in the canine PDE6B gene.Methods. Allele specific primers were designed in which the 3' end had the nucleotide corresponding to either the wild type or the mutant rcdl allele. PCR was done using the allele specific primers in combination with a common primer complementary to the opposite strand to distinguish between the wild type and the rcdl alleles.Results. The wild type and rcdl alleles were identified successfully in two independent ASPCRs done with two different sets of allele specific primers. Further, both alleles could be amplified in a single tube and distinguished based on the size difference of the PCR products ...

Details

ISSN :
14602202 and 02713683
Volume :
15
Database :
OpenAIRE
Journal :
Current Eye Research
Accession number :
edsair.doi...........c7ab96354e3c2ba7d9b37b4d2cafac34
Full Text :
https://doi.org/10.3109/02713689609000770