Abstract
Autosomal recessive muscular dystrophies called 'sarcoglycanopathies' result from mutations in the genes encoding α-, β-, γ-, or δ-sarcoglycan complex components. The present study involved six unrelated families from Northern Italy showing mutations in the β- or γ-sarcoglycan genes. An 8 bp duplication in the β-sarcoglycan gene and 1 bp insertion in the γ- sarcoglycan gene occur with high frequency in our population. These mutations have never been reported thus far in other countries. Many patients are homozygotes for a single mutation, although they derived from non- consanguineous marriages. We suggest that these alleles are 'private' mutations of this geographical region. A panel of highly informative microsatellite markers that map in the β- and γ-sarcoglycan gene locus was used to assess the haplotypes among affected patients and control population, in order to test the presence of linkage disequilibrium. We found that the 8 bp duplication in the β-sarcoglycan gene and the 1 bp insertion in the γ- sarcoglycan gene are in linkage disequilibrium with neighbouring polymorphisms. The recurrence of specific sarcoglycan mutations in Northern Italy is probably due to a founder effect, combined with a relative genetic isolation. (C) 2000 Wiley-Liss, Inc.
Original language | English |
---|---|
Pages (from-to) | 13-17 |
Number of pages | 5 |
Journal | Human Mutation |
Volume | 16 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2000 |
Keywords
- Founder effect
- LGMD2C
- LGMD2E
- Limb-girdle muscular dystrophy
- Linkage disequilibrium
- Sarcoglycan
- SGCB
- SGCG
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)