Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes - PubMed (original) (raw)

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes

G Sirugo et al. Am J Hum Genet. 1992 Mar.

Abstract

Eleven Acadian families with Friedreich ataxia (FA) who were from southwest Louisiana were studied with a series of polymorphic markers spanning 310 kb in the D9S5-D9S15 region previously shown to be tightly linked to the disease locus. In particular, three very informative microsatellites were tested. Evidence for a strong founder effect was found, since a specific extended haplotype spanning 230 kb from 26P (D9S5) to MCT112 (D9S15) was present on 70% of independent FA chromosomes and only once (6%) on the normal ones. There was no evident correlation between haplotypes and clinical expression. The typing of an additional microsatellite (GS4) located 80 kb from MCT112 created a divergence of the main FA-linked haplotype, generating four minor and one major haplotype. A similar split was observed with GS4 in a patient homozygous for a rare 26P-to-MCT112 haplotype. These results suggest that GS4 is flanking marker for the disease locus, although other interpretations are possible.

PubMed Disclaimer

Similar articles

• Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.
  Rodius F, Duclos F, Wrogemann K, Le Paslier D, Ougen P, Billault A, Belal S, Musenger C, Brice A, Dürr A, et al. Rodius F, et al. Am J Hum Genet. 1994 Jun;54(6):1050-9. Am J Hum Genet. 1994. PMID: 8198128 Free PMC article.
• Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
  Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL. Fujita R, et al. Proc Natl Acad Sci U S A. 1990 Mar;87(5):1796-800. doi: 10.1073/pnas.87.5.1796. Proc Natl Acad Sci U S A. 1990. PMID: 1968638 Free PMC article.
• A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
  Fujita R, Sirugo G, Duclos F, Abderrahim H, Le Paslier D, Cohen D, Brownstein BH, Schlessinger D, Mandel JL, Koenig M. Fujita R, et al. Hum Genet. 1992 Jul;89(5):531-8. doi: 10.1007/BF00219179. Hum Genet. 1992. PMID: 1353054
• Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites.
  Sirugo G, Duclos F, Fujita R, Keats JB, Pandolfo M, Mandel JL, Koenig M. Sirugo G, et al. Biomed Pharmacother. 1994;48(5-6):219-24. doi: 10.1016/0753-3322(94)90136-8. Biomed Pharmacother. 1994. PMID: 7999982
• Attempts to identify the chromosomal localization of the Friedreich's ataxia locus.
  Chamberlain S, Worrall C, Williamson R. Chamberlain S, et al. Adv Neurol. 1988;48:257-60. Adv Neurol. 1988. PMID: 2891256 Review. No abstract available.

Cited by

• Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
  Robichaud PP, Allain EP, Belbraouet S, Bhérer C, Mamelona J, Harquail J, Crapoulet S, Crapoulet N, Bélanger M, Ben Amor M. Robichaud PP, et al. BMC Med Genomics. 2022 Apr 29;15(1):98. doi: 10.1186/s12920-022-01249-1. BMC Med Genomics. 2022. PMID: 35488281 Free PMC article.
• Bayesian analysis of haplotypes for linkage disequilibrium mapping.
  Liu JS, Sabatti C, Teng J, Keats BJ, Risch N. Liu JS, et al. Genome Res. 2001 Oct;11(10):1716-24. doi: 10.1101/gr.194801. Genome Res. 2001. PMID: 11591648 Free PMC article.
• Friedreich ataxia: an overview.
  Delatycki MB, Williamson R, Forrest SM. Delatycki MB, et al. J Med Genet. 2000 Jan;37(1):1-8. doi: 10.1136/jmg.37.1.1. J Med Genet. 2000. PMID: 10633128 Free PMC article. Review.
• A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
  Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K. Weiler T, et al. Am J Hum Genet. 1998 Jul;63(1):140-7. doi: 10.1086/301925. Am J Hum Genet. 1998. PMID: 9634523 Free PMC article.
• Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
  Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N. Neufeld EJ, et al. Am J Hum Genet. 1997 Dec;61(6):1335-41. doi: 10.1086/301642. Am J Hum Genet. 1997. PMID: 9399900 Free PMC article.

References

1. 1. Am J Hum Genet. 1990 Jan;46(1):133-7 - PubMed
2. 1. Nucleic Acids Res. 1990 May 25;18(10):3097 - PubMed
3. 1. Genomics. 1989 Jan;4(1):110-1 - PubMed
4. 1. Am J Med Genet. 1989 Jun;33(2):266-8 - PubMed
5. 1. Nature. 1988 Jul 21;334(6179):248-50 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • PubMed Central

• Other Literature Sources

  • The Lens - Patent Citations

• Medical

  • MedlinePlus Health Information