A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors.
作者： T. J. Kotlar , R. H. Young , C. Albanese , W. F. Crowley , R. E. Scully
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摘要: A subset of ovarian tumors, referred to as sex cord-stromal produce endocrine manifestations due the secretion estrogens or androgens. Because gonadotropins induce growth, differentiation, and function steroid-producing cells ovary, we hypothesized that mutations in FSH receptor (FSH-R) might occur this group tumors. Ovarian cord tumors (n = 13), small cell carcinomas ovary 3), control DNA specimens (n= 116) were screened for transmembrane domains FSH-R. heterozygous T→C mutation was found at nucleotide 1777 converts codon 591 from phenylalanine serine (F591S). This sixth domain 9 13 (69%) 2 3 carcinomas, but it not present specimens, including 5 normal ovaries, nonsex 16 thyroid 90 peripheral blood leukocyte DNA, suggesting change is a polymorph...
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