Prenatal diagnosis of Huntington's disease (HD): experiences with six cases and PCR.
作者： Ulrike Thies , Christine Zühlke , Barbara Bockel , Kirsten Schröder
关键词:
摘要: In the course of a 2-year predictive testing programme for Huntington's disease (HD), six couples from total 52 applicants requested prenatal testing. each case, pregnancy was in first or second trimester when were referred DNA diagnosis. five cases, exclusion offered; one person at risk with an increased being gene carrier all informative markers could be determined. Whenever possible, newer technique polymerase chain reaction (PCR) D4S125 applied to perform rapid Two withdrew before chorionic villus sampling undertaken; diagnosis completed remaining four cases. After testing, two pregnancies determined have and fetuses low HD carriers.
sci-hub.se 参考文章(24)
J J Wasmuth, N Carpenter, U Bengtsson, R E Magenis, B Smith, D Skarecky, Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus. American Journal of Human Genetics. ,vol. 42, pp. 335- 344 ,(1988)
M Bloch, M R Hayden, Opinion: predictive testing for Huntington disease in childhood: challenges and implications. American Journal of Human Genetics. ,vol. 46, pp. 1- 4 ,(1990)
Mette I. Skraastad, Aart Verwest, Egbert Bakker, Maria Vegter-van der Vlis, Inge van Leeuwen-Cornelisse, Raymund A. C. Roos, Peter L. Pearson, Gert-Jan B. van Ommen, Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers. American Journal of Medical Genetics. ,vol. 39, pp. 217- 222 ,(1991) , 10.1002/AJMG.1320390221
Gregory J. Meissen, Richard H. Myers, Carol A. Mastromauro, Walter J. Koroshetz, Katherine W. Klinger, Lindsay A. Farrer, Patricia A. Watkins, James F. Gusella, Edward D. Bird, Joseph B. Martin, Predictive testing for Huntington's disease with use of a linked DNA marker. The New England Journal of Medicine. ,vol. 318, pp. 535- 542 ,(1988) , 10.1056/NEJM198803033180903
Patricia M. Stapleton, Sequence analysis of three polymorphic regions in the human genome detected by the G8 probe for RFLPs associated with Huntington's disease Nucleic Acids Research. ,vol. 16, pp. 2735- 2735 ,(1988) , 10.1093/NAR/16.6.2735
M Fahy, C Robbins, M Bloch, R W Turnell, M R Hayden, Different options for prenatal testing for Huntington's disease using DNA probes. Journal of Medical Genetics. ,vol. 26, pp. 353- 357 ,(1989) , 10.1136/JMG.26.6.353
David Craufurd, Lauren Kerzin-Storrar, Alan Dodge, Rodney Harris, UPTAKE OF PRESYMPTOMATIC PREDICTIVE TESTING FOR HUNTINGTON'S DISEASE The Lancet. ,vol. 334, pp. 603- 605 ,(1989) , 10.1016/S0140-6736(89)90722-8
Bernice A. Allitto, Marcy E. MacDonald, Maja Bucan, Julia Richards, Donna Romano, W.Lance Whaley, Barbara Falcone, James Ianazzi, Nancy S. Wexler, John J. Wasmuth, Francis S. Collins, Hans Lehrach, Jonathan L. Haines, James F. Gusella, Increased recombination adjacent to the Huntington disease-linked D4S10 marker. Genomics. ,vol. 9, pp. 104- 112 ,(1991) , 10.1016/0888-7543(91)90226-5
G. Evers-Kiebooms, A. Swerts, J. J. Cassiman, H. Van Den Berghe, The motivation of at-risk individuals and their partners in deciding for or against predictive testing for Huntington's disease. Clinical Genetics. ,vol. 35, pp. 29- 40 ,(2008) , 10.1111/J.1399-0004.1989.TB02902.X
Gilbert S. Omenn, Victor A. McKusick, Robert J. Gorlin, The association of Waardenburg syndrome and Hirschsprung megacolon American Journal of Medical Genetics. ,vol. 3, pp. 217- 223 ,(1979) , 10.1002/AJMG.1320030302