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Sry gene detection in gonads of intersex patients using FISH

Authors
 Nam Hoon Cho  ;  Sang Won Han  ;  Mahn Jun Ha 
Citation
 JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.12(3) : 204-209, 1997 
Journal Title
 JOURNAL OF KOREAN MEDICAL SCIENCE 
ISSN
 1011-8934 
Issue Date
1997
MeSH
Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; Clitoris/metabolism ; DNA-Binding Proteins/genetics* ; Disorders of Sex Development/genetics* ; Disorders of Sex Development/metabolism ; Female ; Gonads/metabolism* ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Mice ; Nuclear Proteins* ; Sex Differentiation/genetics* ; Sex-Determining Region Y Protein ; Transcription Factors*
Abstract
A candidate gene for sex determination was localized within a 35 kb region of the Y chromosome immediately adjacent to the pseudoautosomal boundary. Here, we describe a study of Sry detection in the gonads of intersex patients including 5 male pseudohermaphrodite (MPH), 4 XX true hermaphrodite (TH) and each 1 mixed gonadal dysgenesis (MGD) and XX sex reversal, and in the clitoris of 3 female pseudohermaphrodite (FPH) by fluorescent in situ hybridization (FISH). Sry gene was observed in all cases of MPH and each case of MGD and sex reversal in contrast to bare expression in all cases of FPH and most of TH. To our knowledge, the Sry gene itself functions testicular determination in almost all intersex cases except true hermaphrodite, a distinguished type of intersex in a different pathogenesis. In addition, FISH might be useful to detect the translocated Sry gene and localize the signal with ease.
Files in This Item:
T199701530.pdf Download
DOI
10.3346/jkms.1997.12.3.204
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Urology (비뇨의학교실) > 1. Journal Papers
Yonsei Authors
Cho, Nam Hoon(조남훈) ORCID logo https://orcid.org/0000-0002-0045-6441
Han, Sang Won(한상원) ORCID logo https://orcid.org/0000-0003-0941-1300
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/177330
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