Androgen Receptor Gene Mutations are Rarely Associated with Isolated Penile Hypospadias
作者： Richard W. Sutherland , John S. Wiener , Joseph P. Hicks , Marco Marcelli , Edmond T. Gonzales
DOI: 10.1016/S0022-5347(01)65830-0
关键词: Cancer research 、 Hypospadias 、 Receptor 、 Exon 、 Mutation 、 Missense mutation 、 Sequence analysis 、 Androgen 、 Biology 、 Endocrinology 、 Gene 、 Internal medicine
摘要: AbstractPurpose: Hypospadias has no known single etiology but it been linked to androgen insensitivity caused by mutations of the receptor gene. The purpose this study was search for such in cases various degrees isolated hypospadias determine whether an association exists and, if so, with any particular anatomical subgroup.Materials and Methods: Isolated deoxyribonucleic acid from penile tissue 40 patients undergoing reconstructive surgery screened coding regions gene using strand conformational polymorphism analysis. In abnormal findings sequence analysis performed define mutation.Results: A missense mutation exon 2 noted 1 patient distal shaft hypospadias. Sequence revealed that changed amino residue 546 proline to...
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