Clinical Applicability of FANCD2 Mono-Ubiquitination Test for Fanconi Anemia Diagnosis and a Suggestion for an Algorithm

Ada B. S., TUNCALI T., Ertem M., ILGIN RUHİ H.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, cilt.36, sa.2, ss.175-182, 2011 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 2
  • Basım Tarihi: 2011
  • Dergi Adı: TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.175-182
  • Anahtar Kelimeler: Fanconi anemia, FANCD2, mono-ubiquitination, diagnosis, DEB testing algorithm, SOMATIC MOSAICISM, PATHWAY, MUTATIONS, REGISTRY, REVERSION, FEATURES, HUMANS, GENE
  • Ankara Üniversitesi Adresli: Evet

Özet

Objectives: Fanconi anemia is caused by mutations in related FANC genes that are involved in DNA repair pathways. Diepoxybutane induced chromosome break test in lymphocytes if positive is affirmative for the diagnosis. However, in 20-25% of the cases the test results have intermediate values which are mostly attributed to somatic mosaicism and cause an ambiguity for diagnosis. Here, we utilize the relatively new and rarely used FANCD2 mono-ubiquitination test to facilitate and resolve the diagnostic problem in a clinical scheme.