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Başlık: Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus
Yazarlar: Jin, Woo Jung
Leipoldt, Michael
Bausch, Elke
Scherer, Gerd
Uludağ Üniversitesi/Tıp Fakültesi/Genetik ve Moleküler Biyoloji Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.
Temel, Şehime Gülsün
Gülten, Tuna
Yakut, Tahsin
Sağlam, Halil
Kılıç, Neslihan
6507885442
6505944216
6602802424
35612700100
7005266570
Anahtar kelimeler: SOX9
True Hermaphrodites
46, XX ovotesticular DSD
46, XX testicular DSD
Sex determination
Sex differentiation
Sex reversal
SRY
Campomelic dysplasia
46, Xx Males
Gene
Deletion
Female
Family
Testis
Mice
Transmission
Yayın Tarihi: 2007
Yayıncı: Karger
Atıf: Temel, Ş. G. vd. (2007). "Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus". Sexual Development, 1(1), 24-34.
Özet: It is well established that testicular differentiation of the human embryonic gonad depends on the action of the Y-chromosomal gene SRY. However, exceptional cases such as SRY-negative cases of 46,XX testicular disorder of sexual development (DSD), and of 46,XX ovotesticular DSD document that testicular tissue can develop in the absence of the SRY gene. These SRY-negative XX sex reversal cases are very rare and usually sporadic, but a few familial cases have been reported. We present a large, consanguineous family with nine affected individuals with phenotypes ranging from 46, XX testicular DSD to 46, XX ovotesticular DSD, with predominance of male characteristics. Absence of SRY in peripheral blood was documented by fluorescence in situ hybridization (FISH) and PCR analysis in all nine affected individuals, and by FISH analysis on gonadal sections with testicular tissue in four affected individuals. By quantitative PCR, a duplication of the SOX9 gene was excluded. In addition, as linkage analysis showed that the nine affected members of the family do not share a common SOX9 haplotype, any mutation at the SOX9 locus could be ruled out. Together, these findings implicate a mutation at a sex-determining locus other than SRY and SOX9 as the cause for the XX sex reversal trait in this family.
URI: https://doi.org/10.1159/000096236
https://www.karger.com/Article/FullText/96236
http://hdl.handle.net/11452/28649
ISSN: 16615433
Koleksiyonlarda Görünür:PubMed
Scopus
Web of Science

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