Hum Mol Genet. 1993 Apr;2(4):479-83.

Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21.

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Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Québec, Canada.

Abstract

The human estradiol 17 beta-hydroxysteroid dehydrogenase II (17 beta-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 17 beta-HSD II was completely determined in four unrelated individuals. Direct sequencing of PCR fragments that span the complete 17 beta-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 polymorphisms. Seven of the 11 polymorphisms were in complete linkage disequilibrium. These polymorphisms in the 17 beta-HSD II gene provide markers that can be used for the genetic mapping of this locus, and may be used to establish whether 17 beta-HSD II is a candidate gene for hereditary breast-ovarian cancer.

PMID:: 8389226; [PubMed - indexed for MEDLINE]

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Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA. [Hum Mol Genet. 1993]
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA.
Simard J, Feunteun J, Lenoir G, Tonin P, Normand T, Luu The V, Vivier A, Lasko D, Morgan K, Rouleau GA. Hum Mol Genet. 1993 Aug; 2(8):1193-9.
Human familial and sporadic breast cancer: analysis of the coding regions of the 17 beta-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay. [Hum Genet. 1994]
Human familial and sporadic breast cancer: analysis of the coding regions of the 17 beta-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay.
Mannermaa A, Peltoketo H, Winqvist R, Ponder BA, Kiviniemi H, Easton DF, Poutanen M, Isomaa V, Vihko R. Hum Genet. 1994 Mar; 93(3):319-24.
The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21. [Hum Mol Genet. 1994]
The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21.
Tonin P, Serova O, Simard J, Lenoir G, Feunteun J, Morgan K, Lynch H, Narod S. Hum Mol Genet. 1994 Sep; 3(9):1679-82.
Review Towards cloning the familial breast-ovarian cancer gene on chromosome 17. [Curr Opin Genet Dev. 1994]
Review Towards cloning the familial breast-ovarian cancer gene on chromosome 17.
Brown MA, Solomon E. Curr Opin Genet Dev. 1994 Jun; 4(3):439-45.
Review The multiple murine 3 beta-hydroxysteroid dehydrogenase isoforms: structure, function, and tissue- and developmentally specific expression. [Steroids. 1997]
Review The multiple murine 3 beta-hydroxysteroid dehydrogenase isoforms: structure, function, and tissue- and developmentally specific expression.
Payne AH, Abbaszade IG, Clarke TR, Bain PA, Park CH. Steroids. 1997 Jan; 62(1):169-75.

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Interaction of soy and 17beta-HSD1 gene polymorphisms in the risk of endometrial cancer. [Pharmacogenet Genomics. 2007]
Interaction of soy and 17beta-HSD1 gene polymorphisms in the risk of endometrial cancer.
Dai Q, Xu WH, Long JR, Courtney R, Xiang YB, Cai Q, Cheng J, Zheng W, Shu XO. Pharmacogenet Genomics. 2007 Feb; 17(2):161-7.
Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1. [Am J Hum Genet. 1999]
Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.
Liu X, Barker DF. Am J Hum Genet. 1999 May; 64(5):1427-39.
Site-directed mutagenesis of the putative active site of human 17 beta-hydroxysteroid dehydrogenase type 1. [Biochem J. 1994]
Site-directed mutagenesis of the putative active site of human 17 beta-hydroxysteroid dehydrogenase type 1.
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Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21.
Hum Mol Genet. 1993 Apr ;2(4):479-83.

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Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21.

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