Τίτλος:
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the greek population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to 40% of congenital, autosomal recessive, severe to profound hearing impairment cases result from mutations in a single gene, GJB2, that encodes the connexin 26 protein. One specific mutation in this gene, 35delG, accounts for the majority of GJB2 mutations detected in Caucasian populations. Some previous studies have assumed that the high frequency of the 35delG mutation reflects the presence of a mutational hot spot, while other studies support the theory of a common founder. Greece is among the countries with the highest carrier frequency of the 35delG mutation (3.5%), and a recent study raised the hypothesis of the origin of this mutation in ancient Greece. We genotyped 60 Greek deafness patients homozygous for the 35delG mutation for six single nucleotide polymorphisms (SNPs) and two microsatellite markers inside or flanking the GJB2 gene. The allele distribution in the patients was compared to 60 Greek normal hearing controls. A strong linkage disequilibrium was found between the 35delG mutation and markers inside or flanking the GJB2 gene. Furthermore, we found a common haplotype with a previous study, suggesting a common founder for the 35delG mutation. © 2008 Wiley-Liss, Inc.
Συγγραφείς:
Kokotas, H.
Van Laer, L.
Grigoriadou, M.
Iliadou, V.
Economides, J.
Pomoni, S.
Pampanos, A.
Eleftheriades, N.
Ferekidou, E.
Korres, S.
Giannoulia-Karantana, A.
Van Camp, G.
Petersen, M.B.
Περιοδικό:
American Journal of Medical Genetics. Part A
Λέξεις-κλειδιά:
connexin 26; genomic DNA, article; autosomal recessive inheritance; disease severity; gene; gene frequency; gene linkage disequilibrium; gene mutation; genetic marker; genotype; GJB2 gene; Greece; hearing loss; human; major clinical study; nucleotide sequence; polymerase chain reaction; priority journal; single nucleotide polymorphism, Alleles; Case-Control Studies; Connexins; Deafness; Founder Effect; Gene Frequency; Genes, Recessive; Greece; Haplotypes; Homozygote; Humans; Linkage Disequilibrium; Microsatellite Repeats; Polymorphism, Single Nucleotide; Sequence Deletion
DOI:
10.1002/ajmg.a.32546
