@article {Rabionet260, author = {Raquel Rabionet and Xavier Estivill}, title = {Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene}, volume = {36}, number = {3}, pages = {260--261}, year = {1999}, doi = {10.1136/jmg.36.3.260}, publisher = {BMJ Publishing Group Ltd}, abstract = {Despite the large number of genes that are expected to be involved in non-syndromal, recessive deafness, only a few have been cloned. One of these genes is GJB2, which encodes connexin 26. A frameshift mutation in this gene has been reported to be common in several populations and a carrier frequency of about 1 in 30 people has been detected in Italy and Spain. Mutation 35delG is difficult to detect because it lies within a stretch of six guanines flanked by thymines, so the deletion of one G does not create or destroy a restriction site and mutagenesis primers are not useful for this mutation. We have generated an allele specific oligonucleotide method that uses 12-mer oligonucleotides and easily discriminates between the normal and 35delG alleles. The method should permit a rapid analysis of this mutation in congenital cases (recessive or sporadic), including diagnosis and carrier detection of 35delG in the population.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/36/3/260}, eprint = {https://jmg.bmj.com/content/36/3/260.full.pdf}, journal = {Journal of Medical Genetics} }