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Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates
Author(s) -
Ben Arab Saïda,
Hmani Mounira,
Denoyelle Françoise,
BoulilaElgaied Amel,
Chardenoux Sebastien,
Hachicha Slah,
Petit Christine,
Ayadi Hammadi
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570607.x
Subject(s) - genetics , locus (genetics) , biology , genetic heterogeneity , gene , founder effect , locus heterogeneity , allele , haplotype , phenotype
Geographically isolated populations have been successfully used to localize genes for recessive inherited diseases, including non‐syndromic sensorineural recessive deafness (NSRD). To date, 25 loci for NSRD have been localized on human chromosomes (DFNB loci), and six of the corresponding genes have been identified.
Here, we report on the contribution of the DFNB1 locus ( GJB2 gene) to NRSD in seven affected families living in three northern Tunisian geographic isolates, and we provide evidence for genetic heterogeneity within isolates. This finding challenges the classical view of a single ‘founder’ mutation segregating in such isolates.