Disruption of <i>HDX</i> gene in premature ovarian failure

Okten G., Güneş S., ONAT O. E., Tukun A., Ozcelik T., Koçak İ.

SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, cilt.59, sa.4, ss.218-222, 2013 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 4
  • Basım Tarihi: 2013
  • Doi Numarası: 10.3109/19396368.2013.769028
  • Dergi Adı: SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.218-222
  • Bezmiâlem Vakıf Üniversitesi Adresli: Hayır

Özet

We present a case of a 19-year-old phenotypically normal girl with premature ovarian failure. Cytogenetic analysis using G banding and fluorescence in situ hybridization (FISH) from cultured peripheral blood lymphocytes of the patient and the family revealed a de novo X; 15 translocation and the imbalance to be 46, X, t(X; 15)(Xpter -> Xq21::15q11 -> 15qter; 15pter -> 15q11::Xq21 -> Xqter). ish (CEPX+, wep15+, ISNRPN+, PML+, D15S10+, wcp15-, SNRRN-, PML-)[20]. The X chromosome inactivation (XCI) assay revealed a completely skewed XCI pattern in which selective pressure favors an active maternal allele. The Affymetrix 2.7 M cytogenetics whole-Genome array confirmed the chromosomal imbalance and identified disruption of the HDX gene at Xq21, the translocation breakpoint.