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 |
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Keywords
- Founder effect
- LGMD2C
- LGMD2E
- Limb-girdle muscular dystrophy
- Linkage disequilibrium
- Sarcoglycan
- SGCB
- SGCG
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Private β- and γ-sarcoglycan gene mutations : Evidence of a founder effect in Northern Italy. / Fanin, Marina; Hoffman, Eric P.; Angelini, Corrado; Pegoraro, Elena.
In: Human Mutation, Vol. 16, No. 1, 2000, p. 13-17.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Private β- and γ-sarcoglycan gene mutations
T2 - Evidence of a founder effect in Northern Italy
AU - Fanin, Marina
AU - Hoffman, Eric P.
AU - Angelini, Corrado
AU - Pegoraro, Elena
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - Founder effect
KW - LGMD2C
KW - LGMD2E
KW - Limb-girdle muscular dystrophy
KW - Linkage disequilibrium
KW - Sarcoglycan
KW - SGCB
KW - SGCG
UR - http://www.scopus.com/inward/record.url?scp=0033924147&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033924147&partnerID=8YFLogxK
U2 - 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V
DO - 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V
M3 - Article
C2 - 10874299
AN - SCOPUS:0033924147
VL - 16
SP - 13
EP - 17
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 1
ER -