LINKAGE ANALYSIS AND A NOVEL COL4A5 MUTATION IN A LARGE TURKISH FAMILY WITH ALPORT SYNDROME

Tuğ E., Perçin F. E., Pala E., Baysoy G.

GENETIC COUNSELING, cilt.22, sa.2, ss.143-153, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 2
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.143-153
  • Gazi Üniversitesi Adresli: Evet

Özet

Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome: Background: Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural hearing loss and ocular changes. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. We describe a large Turkish family with X-linked AS. We performed linkage analysis in this family and sequencing to identify the mutation in the proband whose disease was confirmed by renal biopsy.