Mapping of the HSD17B2 gene encoding type II 17{beta}-hydroxysteroid dehydrogenase close to D16S422 on chromosome 16q24.1-q24.2
- CHUL Research Center and Laval Univ., Quebec (Canada); and others
The enzymes of the 17{Beta}-hydroxysteroid dehydrogenase (17{Beta}-HSD) gene family are responsible for a key step in the formation and degradation of androgens and estrogens: catalyzing the interconversion of 17-ketosteroids and their active 17{Beta}-hydroxysteroid counterparts. The structure of human type II 17{Beta}-HSD cDNA was recently reported. This enzyme catalyzes the interconversion of {Delta}{sup 4}-androstenedione and testosterone, and rostanedione and dihydrotestosterone, and estrone and 17p-estradiol, whereas type 17{Beta}-HSD catalyzes exclusively the interconversion of estrogens. To locate the HSD17B2 gene, the novel dinucleotide CA repeat sequence found 571 hp downstream from the end of exon 1 was genotyped into eight CEPH reference families by PCR. Two-point linkage analysis was performed between the latter polymorphism and the 2066 microsatellite markers of Genethon. The maximal pairwise lod score (Z{sub max} = 33.3) with a maximal recombination fraction ({theta}{sub max}) of 0.008 was obtained with the marker D16S422 located on 16q24.1-q24.2. To define further the localization of the HSD17B2 gene, we constructed a high-resolution genetic map of the region flanking the polymorphic HSD17B2 gene including eight Genethon markers. The order of the HSD17132 gene and markers is qter- D16S516 - D16S504 - D16S507 - D16S505 - D16S511 - HSD17B2-Dl6S4221-Dl6S520-Dl6S413-tel. 15 refs., 2 figs., 1 tab.
- OSTI ID:
- 232721
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 25; ISSN GNMCEP; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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