© 1993 Oxford University Press
OTHER |
Detection of polymorphisms in the estradiol 17ß-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11–q21
Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University 2705 Laurier Boulevard, Québec G1V 4G2 1Centre for Human Genetics and Departments of Medicine and Oncology, McGill University Montréal H3G 1A4, Canada
* To whom correspondence should be addressed
Received November 17, 1992; Revised January 19, 1993; Accepted January 19, 1993
The human estradiol 17ß-hydroxysteroid dehydrogenase II (17ß-HSD II) gene has been assigned by somatic cell hybridization to chromosome 17q11–q21, near the region of assignment of the gene BRCA1, which is involved in hereditary breast-ovarian cancer. The nucleotide sequence of 17ß-HSD II was completely determined in four unrelated individuals. Direct sequencing of PCR fragments that span the complete 17ß-HSD II gene revealed a total of 11 allelic variants which were due to single base substitutions. The presence of these variants was then studied in twenty six additional unrelated individuals. There were nine frequent and two rare polymophisms. Seven of the 11 polymorphisms were in complete linkage disequilibrium. These polymorphisms in the 17ß-HSD II gene provide markers that can be used for the genetic mapping of this locus, and may be used to establish whether 17ß-HSD II is a candidate gene for hereditary breast-ovarian cancer.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. H. Olson, E. V. Bandera, and I. Orlow Variants in Estrogen Biosynthesis Genes, Sex Steroid Hormone Levels, and Endometrial Cancer: A HuGE Review Am. J. Epidemiol., February 1, 2007; 165(3): 235 - 245. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. S. Feigelson, D. G. Cox, H. M. Cann, S. Wacholder, R. Kaaks, B. E. Henderson, D. Albanes, D. Altshuler, G. Berglund, F. Berrino, et al. Haplotype Analysis of the HSD17B1 Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies Cancer Res., February 15, 2006; 66(4): 2468 - 2475. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. H. Payne and D. B. Hales Overview of Steroidogenic Enzymes in the Pathway from Cholesterol to Active Steroid Hormones Endocr. Rev., December 1, 2004; 25(6): 947 - 970. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 V. W. Setiawan, S. E. Hankinson, G. A. Colditz, D. J. Hunter, and I. De Vivo HSD17B1 Gene Polymorphisms and Risk of Endometrial and Breast Cancer Cancer Epidemiol. Biomarkers Prev., February 1, 2004; 13(2): 213 - 219. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. S. Feigelson, R. McKean-Cowdin, G. A. Coetzee, D. O. Stram, L. N. Kolonel, and B. E. Henderson Building a Multigenic Model of Breast Cancer Susceptibility: CYP17 and HSD17B1 Are Two Important Candidates Cancer Res., January 1, 2001; 61(2): 785 - 789. [Abstract] [Full Text]
|
|
|
|
 |
|
 T. Puranen, M. Poutanen, D. Ghosh, P. Vihko, and R. Vihko Characterization of Structural and Functional Properties of Human 17{beta}-Hydroxysteroid Dehydrogenase Type 1 Using Recombinant Enzymes and Site-Directed Mutagenesis Mol. Endocrinol., January 1, 1997; 11(1): 77 - 86. [Abstract] [Full Text]
|
|
|
|
 |
|
 E.A. Ostermeyer, L.S. Friedman, E.D. Lynch, C.I. Szabo, P. Dowd, M.K. Lee, S.E. Rowell, and M.-C. King Green Pigs, Red Herrings, and a Golden Hoe: A Retrospective on the Identification of BRCA1 and the Beginning of Its Characterization Cold Spring Harb Symp Quant Biol, January 1, 1994; 59(0): 523 - 530. [Abstract] [PDF]
|
|