A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.
作者： Terry-Lynn Young , Lynette Penney , Michael O. Woods , Patrick S. Parfrey , Jane S. Green
DOI: 10.1086/302301
关键词: Bardet–Biedl syndrome 、 Family medicine 、 Biology 、 Homozygosity by descent 、 Locus (genetics) 、 Genetics
摘要: We thank the family for their participation in this study. Financial support work came from Kidney Foundation of Canada and Medical Research Council Canada. T.-L.Y. M.O.W. are recipients Graduate Fellowships Faculty Medicine at Memorial University. J.S.G is a recipient grant Canadian Genetic Diseases Network.
core.ac.uk
elsevier.com
sci-hub.se 参考文章(14)
D. Klein, F. Ammann, The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland Journal of the Neurological Sciences. ,vol. 9, pp. 479- 513 ,(1969) , 10.1016/0022-510X(69)90091-4
Val C. Sheffield, Rivka Carml, Anne Kwltek-Black, Tatiana Rokhlina, Darryl Nishlmura, Geoffrey M. Duyk, Khalil Elbedour, Sara L. Sunden, Edwin M. Stone, Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping Human Molecular Genetics. ,vol. 3, pp. 1331- 1335 ,(1994) , 10.1093/HMG/3.8.1331
E. Lander, D Botstein, Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children Science. ,vol. 236, pp. 1567- 1570 ,(1987) , 10.1126/SCIENCE.2884728
Val C Sheffield, Edwin M Stone, Rivka Carmi, Use of isolated inbred human populations for identification of disease genes Trends in Genetics. ,vol. 14, pp. 391- 396 ,(1998) , 10.1016/S0168-9525(98)01556-X
Nigel K. Spurr, Susan Naylor, Report of the Fourth International Workshop on Human Chromosome 2 Mapping 1996 Cytogenetic and Genome Research. ,vol. 73, pp. 255- 273 ,(1992) , 10.1159/000134352
J. C. Bear, T. F. Nemec, J. C. Kennedy, W. H. Marshall, A. A. Power, V. M. Kolonel, G. B. Vurke, John M. Optiz, James F. Reynolds, Inbreeding in outport Newfoundland American Journal of Medical Genetics. ,vol. 29, pp. 649- 660 ,(1988) , 10.1002/AJMG.1320290324
Anne E. Kwitek-Black, Rivka Carmi, Geoffrey M. Duyk, Kenneth H. Buetow, Khalil Elbedour, Ruti Parvari, Chandra Naidu Yandava, Edwin M. Stone, Val C. Sheffield, Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genetics. ,vol. 5, pp. 392- 396 ,(1993) , 10.1038/NG1293-392
Talaat I. Farag, Ahmad S. Teebi, High incidence of Bardet Biedl syndrome among the Bedouin Clinical Genetics. ,vol. 36, pp. 463- 464 ,(2008) , 10.1111/J.1399-0004.1989.TB03378.X
E.A. Bruford, R. Riise, P.W. Teague, K. Porter, K.L. Thomson, A.T. Moore, M. Jay, M. Warburg, A. Schinzel, N. Tommerup, K. Tornqvist, T. Rosenberg, M. Patton, D.C. Mansfield, A.F. Wright, Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21 Genomics. ,vol. 41, pp. 93- 99 ,(1997) , 10.1006/GENO.1997.4613
P L Beales, A M Warner, G A Hitman, R Thakker, F A Flinter, Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. Journal of Medical Genetics. ,vol. 34, pp. 92- 98 ,(1997) , 10.1136/JMG.34.2.92