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Boynuzlu Bir Keçide Freemartinizmin Hormonal ve Tekli Multipleks PCR Analiz Uygulamaları ile Tespiti

Application of Hormonal and Single Multiplex PCR Assays for Detection of Freemartinism in a Horned Goat

Journal Name:

  • İstanbul Üniversitesi Veteriner Fakültesi Dergisi

Publication Year:

  • 2012

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
The present study describes a rare case of freemartinism of the 60XX/60XY chimera type in an adult 7-year-old horned, mixed Lori breed phenotypically doe. Signs of masculinisation were evident in both the behavioral patterns and body conformation, but there was no structure similar to penis and hypospadias was observed in this goat. External genital organs were similar to that of a female one. In this study, a single multiplex PCR assay was used to determine the freemartinism status (XX-XY blood chimerism) based on semi-quantitatively co amplify a sex-based polymorphism in the amelogenin locus (AMX and AMY). In addition, serum concentrations of anti-Müllerian hormone (AMH), testosterone and progesterone hormones of this horned intersex goat were evaluated. Serum AMH levels in the present case (0.2 ng/ml) were similar to male (0.2 ng/ml) and lower than female (0.6 ng/ml) goat. The serum concentrations of testosterone (0.2 ng/ml) were remarkably high in comparison to normal control male and female ones (0.02 ng/ml). Progesterone level in the intersex goat (0.4 ng/ml) was close to control buck (0.7 ng/ml) and remarkably lower than control doe (10 ng/ml). The results of the present study showed that the use of hormonal pattern, especially AMH level, and single multiplex PCR technique provide an easy and alternative approaches for indication of XX/XY chimerism or mosaicism in intersex freemartin goats
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Abstract (Original Language): 
Bu çalışmada, nadir bir olgu olan freemartinizmin dişi fenotipine sahip Lori ırkı melezi 7 yaşındaki boynuzlu ergin bir keçide 60XX/XY kimera tipi bildirilmektedir. Davranış biçimlerinde ve vücut yapısında maskülinizasyon belirtileri bulunur iken, penis veya hypospadias gözlenmemiştir. Dış genital organlar dişi keçi ile benzerlik göstermektedir. Bu çalışmada amelogonin lokusundaki (AMX ve AMY) cinsiyete bağlı polimorfizmin semi-kantitatif olarak çoğaltılması ile freemartinizm durumunun (XX-XY kan kimerizmi) belirlenmesinde tekli multipleks PCR yöntemi kullanılmıştır. Ayrıca anti-Müllerian hormon (AMH), testesteron ve progesteron hormonlarının serum konsantrasyonları da değerlendirmeye alınmıştır. Mevcut vakadaki serum AMH düzeyleri (0,2 ng/ml) tekeye benzer (0,2 ng/ml) olarak, dişi keçiden (0,6 ng/ml) ise düşük olarak saptanmıştır. Serum testesteron konsantrasyonu (0,2 ng/ml) kontrol tekeye ve dişi keçiye (0,02 ng/ml) göre önemli düzeyde yüksek bulunmuştur. İnterseks keçide progesteron düzeyi (0,4 ng/ml) kontrol tekedeki düzeye (0,7 ng/ml) yakın, kontrol dişi keçideki düzeyden (10 ng/ml) ise belirgin olarak düşüktür. Mevcut çalışmanın sonuçları interseks freemartin keçilerde XX/XY kimerizmi veya mozaizmini belirlemede AMY düzeyi ve tekli multipleks PCR tekniğinin kolay ve alternatif bir yöntem olduğunu ortaya koymaktadır.
FULL TEXT (PDF): 
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  • 2
175-181
  • English

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