Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.
作者： D. Ledbetter , S. Ledbetter , K. E. Davies , M. C. Hirst , M. V. Bell
关键词:
摘要: We have localized the gene encoding a cerebellar degeneration related (CDR) protein to region proximal fragile site close DXS98 and DXS105. This is polymorphic with enzyme RsaI therefore also provides new genetic marker in this region. refined localization of locus DXS304 distal breakpoint patient suffering from Hunter disease. confirms previously suggested by linkage studies localizes X mutation relatively small between another hybrid B17.
sci-hub.se 参考文章(16)
Lubs Ha, A marker X chromosome. American Journal of Human Genetics. ,vol. 21, pp. 231- 244 ,(1969)
P.N. Goodfellow, K.E. Davies, H.-H. Ropers, Report of the committee on the genetic constitution of the X and Y chromosomes Cytogenetic and Genome Research. ,vol. 40, pp. 296- 352 ,(1976) , 10.1159/000132178
N. Dahl, K. Hammarström-Heeroma, P. Goonewardena, C. Wadelius, K. -H. Gustavson, G. Holmgren, G. J. B. van Ommen, U. Pettersson, Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome. Human Genetics. ,vol. 82, pp. 216- 218 ,(1989) , 10.1007/BF00291157
Andrew P. Feinberg, Bert Vogelstein, A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity Analytical Biochemistry. ,vol. 132, pp. 6- 13 ,(1983) , 10.1016/0003-2697(83)90418-9
Perry Nisen, Judith Stamberg, Ralph Ehrenpreis, Susana Velasco, Ashok Shende, Jane Engelberg, Gungor Karayalcin, Lewis Waber, The Molecular Basis of Severe Hemophilia B in a Girl The New England Journal of Medicine. ,vol. 315, pp. 1139- 1142 ,(1986) , 10.1056/NEJM198610303151806
M. Patterson, C. Schwartz, M. Bell, S. Sauer, M. Hofker, B. Trask, G. van den Engh, K.E. Davies, Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics. ,vol. 1, pp. 297- 306 ,(1987) , 10.1016/0888-7543(87)90028-0
M. Upadhyaya, M. Sarfarazi, J. S. Bamforth, N. S. T. Thomas, I. Oberle, I. Young, P. S. Harper, Localisation of the gene for Hunter syndrome on the long arm of X chromosome Human Genetics. ,vol. 74, pp. 391- 398 ,(1986) , 10.1007/BF00280492
J Mossman, S Blunt, R Stephens, E E Jones, M Pembrey, Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Archives of Disease in Childhood. ,vol. 58, pp. 911- 915 ,(1983) , 10.1136/ADC.58.11.911
E. J. Dropcho, Y. T. Chen, J. B. Posner, L. J. Old, Cloning of a brain protein identified by autoantibodies from a patient with paraneoplastic cerebellar degeneration Proceedings of the National Academy of Sciences of the United States of America. ,vol. 84, pp. 4552- 4556 ,(1987) , 10.1073/PNAS.84.13.4552
Carolyn Trunca, Eeva Therman, Z. Rosenwaks, The phenotypic effects of small, distal Xq deletions Human Genetics. ,vol. 68, pp. 87- 89 ,(1984) , 10.1007/BF00293879