Cinsiyet anomalisi olup 46, XX karyotipine sahip hastalarda DAX1 ve WNT4 gen analizi
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Tarih
2021
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Dicle Üniversitesi, Sağlık Bilimleri Enstitüsü
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Bipotansiyel gonaddan over ya da testis gelişimi sırasında rol alan genetik faktörlerden iki tanesi DAX1 ve WNT4 genleridir. Bu genlerdeki değişim ve mutasyonların cinsel gelişim bozukluğuna (CGB) yol açtığı yapılan çalışmalarla tespit edilmiştir. Bu çalışmada cinsel gelişim bozukluğu olan hastalarda (46,XX karyotipindeki) DAX1 ve WNT4 genlerinde mutasyon analizi yaparak CGB’na olası etkilerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Bu çalışmada Dicle Üniversitesi Tıp Fakültesi Hastaneleri Tıbbi Biyoloji Anabilim Dalı Genetik Tanı Laboratuvarına CGB ön tanısı ile gelen hastalardan alınan periferik kandan önce kromozom analizi yapılıp 46,XX karyotipine sahip bireyler tespit edilmiş, daha sonra 46,XX karyotipine sahip bireylerden elde edilen DNA’lara Real-time PCR (RT-PCR) tekniği uygulanarak DAX1’in exon 1 bölgesindeki 1133A>G (p.Tyr378Cys) mutasyonuna ve WNT4’ün exon 2 bölgesindeki 341C>T (p.Ala114Val) mutasyonuna bakılmıştır. Bulgular: Araştırılan 61 hastanın 16’sında 46,XX karyotipi tespit edilmiştir. 46,XX karyotipine sahip bu olgulara yapılan RT-PCR sonuçlarında incelenen DAX1 ve WNT4 gen bölgelerinde herhangi bir mutasyon olmadığı tespit edilmiştir. Sonuç: Çalışmamızda, cinsel gelişim bozukluğu ön tanısıyla gelen 46,XX karyotipli hastalara yapılan DAX1 ve WNT4 gen analizleri sonucu mutasyon saptanmadığı verisine ulaşılmıştır. Literatürde bildirilen çalışmalarda bu genlerin daha çok dozaja bağlı etki gösterdikleri tespit edilmiştir. Bu nedenle çalışma gurubumuzdaki CGB’na sahip bireylerde bu anomaliye neden olan durumların bilinmesi için daha kapsamlı çalışmalar ortaya konulmalıdır.
Aim: Two of the genetic factors involved in the development of the ovary or testis from the bipotential gonad are the DAX1 and WNT4 genes. It has been determined by studies that changes and mutations in these genes cause sexual development disorder (DSD). . In this study, it was aimed to evaluate the possible effects of DAX1 and WNT4 genes in patients with sexual development disorders (46,XX karyotype) by performing mutation analysis. Material and Method: In this study, chromosomal analysis was performed before peripheral blood taken from patients who came to Dicle University Medical Faculty Hospitals Medical Biology Department Genetic Diagnosis Laboratory with the preliminary diagnosis of CGB, and individuals with 46,XX karyotype were determined. By applying the -time PCR (RT-PCR) technique, the 1133A>G (p.Tyr378Cys) mutation in the exon 1 region of DAX1 and the 341C>T (p.Ala114Val) mutation in the exon 2 region of WNT4 were examined. Results: 46,XX karyotype was detected in 16 of 61 patients investigated. In the RT-PCR results of these cases with 46,XX karyotype, it was determined that there was no mutation in the DAX1 and WNT4 gene regions examined. Conclusion: In our study, it was found that no mutation was detected as a result of DAX1 and WNT4 gene analyzes performed on patients with 46,XX karyotype who presented with a pre-diagnosis of sexual development disorder. In studies reported in the literature, it has been determined that these genes show more dosage-related effects. For this reason, more comprehensive studies should be conducted to know the conditions that cause this anomaly in individuals with DSD in our study group.
Aim: Two of the genetic factors involved in the development of the ovary or testis from the bipotential gonad are the DAX1 and WNT4 genes. It has been determined by studies that changes and mutations in these genes cause sexual development disorder (DSD). . In this study, it was aimed to evaluate the possible effects of DAX1 and WNT4 genes in patients with sexual development disorders (46,XX karyotype) by performing mutation analysis. Material and Method: In this study, chromosomal analysis was performed before peripheral blood taken from patients who came to Dicle University Medical Faculty Hospitals Medical Biology Department Genetic Diagnosis Laboratory with the preliminary diagnosis of CGB, and individuals with 46,XX karyotype were determined. By applying the -time PCR (RT-PCR) technique, the 1133A>G (p.Tyr378Cys) mutation in the exon 1 region of DAX1 and the 341C>T (p.Ala114Val) mutation in the exon 2 region of WNT4 were examined. Results: 46,XX karyotype was detected in 16 of 61 patients investigated. In the RT-PCR results of these cases with 46,XX karyotype, it was determined that there was no mutation in the DAX1 and WNT4 gene regions examined. Conclusion: In our study, it was found that no mutation was detected as a result of DAX1 and WNT4 gene analyzes performed on patients with 46,XX karyotype who presented with a pre-diagnosis of sexual development disorder. In studies reported in the literature, it has been determined that these genes show more dosage-related effects. For this reason, more comprehensive studies should be conducted to know the conditions that cause this anomaly in individuals with DSD in our study group.
Açıklama
Anahtar Kelimeler
Cinsiyet bozuklukları, DAX1, WNT4, Bipotansiyel gonad, Gender disorders, Bipotential gonad
Kaynak
WoS Q Değeri
Scopus Q Değeri
Cilt
Sayı
Künye
Bayar, A. S. (2021).Cinsiyet anomalisi olup 46, XX karyotipine sahip hastalarda DAX1 ve WNT4 gen analizi. Yayımlanmamış yüksek lisans tezi, Dicle Üniversitesi, Diyarbakır.
