title: Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.
abstract: The purpose of this work was to characterise the W24X mutation of the GJB2 gene in order to provide more representative and geographicaly relevant carrier rates of healthy Roma subisolates and the Hungarian population. 493 Roma and 498 Hungarian healthy subjects were genotyped for the GJB2 c.71G>A (rs104894396, W24X) mutation by PCR-RFLP assay and direct sequencing. This is the first report on GJB2 W24X mutation in geographically subisolated Roma population of Hungary compared to local Hungarians. Comparing the genotype and allele frequencies of GJB2 rs104894396 mutation, significant difference was found in GG (98.4 vs. 99.8 %), GA (1.62 vs. 0.20 %) genotypes and A (0.8 vs. 0.1 %) allele between the Roma and Hungarian populations, respectively (p < 0.02). None of the subjects of Roma and Hungarian samples carried the GJB2 W24X AA genotype. Considerable result of our study, that the proportion of GJB2 W24X GA heterozygotes and the A allele frequency was eight times higher in Roma than in Hungarians. Considering the results, the mutant allele frequency both in Roma (0.8 %) and in Hungarian (0.1 %) populations is lower than expected from previous results, likely reflecting local differentiated subisolates of these populations and a suspected lower risk for GJB2 mutation related deafness. However, the significant difference in GJB2 W24X carrier rates between the Roma and Hungarians may initiate individual diagnostic investigations and effective public health interventions.
authors: Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti 12, Pecs, 7624, Hungary, csilla.sipeky@aok.pte.hu.
authors: Csilla
authors: C
authors: Sipeky
authors: Petra
authors: P
authors: Matyas
authors: Marton
authors: M
authors: Melegh
authors: Ingrid
authors: I
authors: Janicsek
authors: Renata
authors: R
authors: Szalai
authors: Istvan
authors: I
authors: Szabo
authors: Reka
authors: R
authors: Varnai
authors: Greta
authors: G
authors: Tarlos
authors: Alma
authors: A
authors: Ganczer
authors: Bela
authors: B
authors: Melegh
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D034381:Hearing Loss / Q000208:ethnology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D006178:Romani People / Q000235:genetics; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26