Rapid identification of disease-causing mutations using copy number analysis within linkage intervals

BAYRAKLI F., Bilguvar K., Mason C., DiLuna M., BAYRİ Y., Gungör L., ...Daha Fazla

HUMAN MUTATION, cilt.28, sa.12, ss.1236-1240, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 12
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1002/humu.20592
  • Dergi Adı: HUMAN MUTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1236-1240
  • Marmara Üniversitesi Adresli: Hayır

Özet

SNP and comparative genome hybridization arrays (aCGH) are powerful techniques for identifying genome rearrangements, deletions, and duplications. We hypothesized that current array-based detection of copy number variation (CNV) could complement parametric linkage analysis and allow the rapid identification of functional mutations in families with inherited disorders. Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism. Hum Mutat 28(12), 1236-1240, 2007. (c) 2007 Wiley-Liss, Inc.