Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11

American Journal of Human Genetics

Volumn 64, Issue 3, 1999, Pages 768-775

  Richter, Andrea ^a   Rioux, John D ^d   Bouchard, Jean Pierre ^g   Mercier, Jocelyne ^a   Mathieu, Jean ^e   Ge, Bing ^b   Poirier, Josée ^a   Julien, Dominique ^a   Gyapay, Gabor ^f   Weissenbach, Jean ^f   Hudson, Thomas J ^b,c,d   Melançon, Serge B ^a   Morgan, Kenneth ^b,c  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MONTREAL GENERAL HOSPITAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^e CHICOUTIMI HOSPITAL   (Canada)

^f GÉNÉTHON   (France)

^g Hôpital Sainte Justine ^*

Author keywords

[No Author keywords available]

Indexed keywords

SARCOGLYCAN;

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CANADA; CHROMOSOME 13Q; DNA SEQUENCE; FAMILIAL DISEASE; FOUNDER EFFECT; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MYELINATION; PEDIGREE; PRIORITY JOURNAL; RETINA NERVE CELL; SPASTICITY;

ATAXIA;

EID: 0033361944     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302274     Document Type: Article

References (40)

1. Bouchard G, De Braekeleer M (eds) (1991) Histoire d'un génome: population et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery
2. Bouchard G, Laberge C, Scriver CR (1988) Reproduction démographique et transmission génétique dans le nord-est de la province de Québec (18e-20e siecles). Eur J Popul 4: 39-67
3. Bouchard J-P (1991) Recessive spastic ataxia of Charlevoix-Saguenay. In: de Jong JMBV (ed) Handbook of clinical neurology. Vol 16: Hereditary neuropathies and spinocerebellar degenerations, Elsevier Science, Amsterdam, pp 451-459
4. Bouchard J-P, Barbeau A, Bouchard R, Bouchard RW (1978) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 5:61-69
5. Bouchard J-P, Barbeau A, Bouchard R, Bouchard RW (1979) Electomyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 6:185-189
6. Bouchard J-P, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB (1998) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord 8: 474-479
7. Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408-1415
8. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869
9. Cayanis E, Russo JJ, Kalachikov S, Ye X, Park SH, Sunjevaric I, Bonaldo MF, et al (1998) High-resolution YAC-cosmid-STS map of human chromosome 13. Genomics 47:26-43
10. Charbonneau H, Robert N (1987) The French origins of the Canadian population 1608-1759. In: Harris RC (ed) Historical atlas of Canada. Vol 1: From the beginning to 1800. University of Toronto Press, Toronto, plate 45
11. Chumakov IM, Rigault P, Le Gall I, Bellanné-Chantelot C, Billault A, Guillou S, Soularue P, et al (1995) A YAC contig map of the human genome. Nature Suppl 377:175-297
12. Clerget-Darpoux F (1982) Bias of the estimated recombination fraction and lod score due to an association between a disease gene and a marker gene. Ann Hum Genet 46:363-372
13. Collins A, Frezal J, Teague J, Morton NE (1996) A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci USA 93:14771-14775
14. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
15. De Braekeleer M, Giasson F, Mathieu J, Roy M, Bouchard J-P, Morgan K (1993) Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol 10:17-25
16. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
17. Dubovsky J, Sheffield VC, Duyk GM, Weber J (1995) Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet 4:449-452
18. Gauvreau D, Guérin M, Hamel M (1991) De Charlevoix au Saguenay: mesure et caractéristiques du mouvement migratoire avant 1911. In: Bouchard G, De Brackeleer M (eds) Histoire d'un génome: population et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery, pp 145-159
19. Guilford P, Dodé C, Crozet F, Blanchard S, Chaïb H, Levilliers J, Levi-Acobas F, et al (1995) A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). Genomics 29:163-169
20. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
21. Harding A (1993) Clinical features and classification of inherited ataxias. In: Harding A, Deufel T (eds) Advances in neurology. Vol 61: Hereditary ataxias, Raven Press, New York, pp 1-14
22. Hawkins TL, O'Connor-Morin T, Roy A, Santillan C (1994) DNA purification and isolation using a solid-phase. Nucleic Acids Res 22:4543-4544
23. Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB, Silva J, Slonin DK, et al (1995) An STS-based map of the human genome. Science 270:1945-1954
24. Knoppers BM, Laberge C (1991 ) DNA sampling and informed consent. CMAJ 144:128-129
25. Jetté R, Gauvreau D, Guérin M. (1991) Aux origines d'une région: le peuplement fondateur de Charlevoix avant 1850. In: Bouchard G, DeBraekeleer M (eds) Histoire d'un génome: population et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery, pp 75-106
26. Lange K (1997) Mathematical and statistical methods for genetic analysis. Springer-Verlag, New York
27. Lange K, Weeks D, Boehnke M (1988) Programs for pedigree analysis: MENDEL, FISHER and dGENE. Genet Epidemiol 5:471-472
28. Lathrop GM, Lalouel JM, Julier C, Ott J (1 984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
29. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
30. McNally EM, Passos-Bueno MR, Bönnemann CG, Vainzof M, de Sá Moreira E, Lidov HGW, Ben Othmane K, et al (1996) Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 59:1040-1047
31. Richter A, Morgan K, Bouchard J-P, Mathieu J, Lamarche J, Rioux J, Hudson T, et al (1996) ARSACS: Possibly a lysosomal storage disease? Am J Hum Genet Suppl 59: A379
32. Richter A, Morgan K, Bouchard J-P, Poirier J, Mercier J, Gosselin F, Melançon SB (1993) Clinical and molecuar genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay. In: Harding A, Deufel T (eds) Advances in neurology. Vol 61: Hereditary ataxias, Raven Press, New York, pp 97-103
33. Schäffer AA (1996) Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 46: 226-235
34. Schäffer AA, Gupta SK, Shriram K, Cottingham RW Jr (1994) Avoiding recomputation in linkage analysis. Hum Hered 44: 225-237
35. Shaw SH, Farr JEW, Thiel BA, Matise TC, Weissenbach J, Chakaravarti A, Richard CW III (1995) A radiation hybrid map of 95 STSs spanning human chromosome 13q. Genomics 27:502-510
36. Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337
37. Staden R (1996) The Staden sequence analysis package. Mol Biotechnol 5:233-241
38. Terwilliger JD, Ott J ( 1994) Handbook of human genetic linkage. Johns Hopkins University Press, Baltimore
39. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
40. Weeks DE, Sobel E, O'Connell JR, Lange K (1995) Computer programs for multilocus haplotyping of general pedigrees. Am J Hum Genet 56:1506-1507