A founder effect in the Newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM

American Journal of Human Genetics

Volumn 65, Issue 6, 1999, Pages 1680-1687

  Young, Terry Lynn ^a   Woods, Michael O ^a   Parfrey, Patrick S ^a   Green, Jane S ^a   Hefferton, Donna ^a   Davidson, William S ^b  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^b SIMON FRASER UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; CANADA; CHROMOSOME 11Q; CONTROLLED STUDY; FOUNDER EFFECT; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC RECOMBINATION; GENOTYPE; HAPLOTYPE; HUMAN; PRIORITY JOURNAL;

EID: 0033358604     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302686     Document Type: Article

References (27)

1. Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 34:92-98
2. Bear JC, Nemec TF, Kennedy JC, Marshall WH, Power AA, Kolonel VM, Burke GB (1988) Inbreeding in outport Newfoundland. Am J Med Genet 29:649-660
3. Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, et al (1997) Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics 41: 93-99
4. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 4:9-13
5. Cooper PR, Nowak NJ, Higgins MJ, Simpson SA, Marquardt A, Stoehr H, Weber BHF, et al (1997) A sequence-ready high resolution physical map of the Best macular dystrophy gene region in 11q13. Genomics 41:185-192
6. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
7. Froggatt NJ, Green J, Brassett C, Evans DGR, Bishop DT, Kolodner R, Maher ER (1999) A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 36:97-102
8. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, et al (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321:1002-1009
9. Groenewald JZ, Liebenberg J, Groenewald IM, Warnich L (1998) Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria in South African Afrikaners. Am J Hum Genet 62:1254-1258
10. Guru SC, Olufemi SE, Manickam P, Cummings C, Gieser LM, Pike BL, Bittner ML, et al (1997) A 2.8-Mb clone contig of the multiple endocrine neoplasia type I (MEN1) region at 11q13. Genomics 42:436-445
11. Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211
12. Jorde LB (1995) Linkage disequilibrium as a gene-mapping tool. Am J Hum Genet 56:11-14
13. Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava C, et al (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet 5:392-396
14. Labuda M, Labuda D, Korab-Laskowska M, Cole DEC, Zietkiewicz E, Weissenbach J, Popowska E (1996) Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet 59:633-643
15. Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
16. Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet 7:108-112
17. Litt M, Hauge X, Sharma V (1993) Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures. BioTechniques 15:280-284
18. Manion JJ (ed) (1977) The peopling of Newfoundland: essays in historical geography. Institute of Social and Economic Research, Memorial University of Newfoundland, St. John's, Newfoundland
19. Manickam P, Guru SC, Debelenko LV, Agarwal SK, Olufemi S-E, Weisemann JM, Boguski MS, et al (1997) Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region. Hum Genet 101:102-108
20. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
21. O'Dea D, Parfrey P, Harnett JD, Hefferton D, Cramer BC, Green J (1996) The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kid Dis 27: 776-783
22. Burm) in four kindreds from Newfoundland. Hum Mutat 11:264-269
23. Schäffer AA, Gupta SK, Shriram K, Cottingham RW Jr (1994) Avoiding recomputation in linkage analysis. Hum Hered 44: 225-237
24. Sheffield VS, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, et al (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 3:1331-1335
25. Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (1999) Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Genomics 55:2-9
26. Xiong M, Guo, S-W (1997) Fine-scale genetic mapping based on linkage disequilibrium: theory and practice. Am J Hum Genet 60:1513-1531
27. Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (1999) A fifth locus for Bardet-Biedl syndrome maps to 2q31. Am J Hum Genet 64:900-904