Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

Christodoulou K., Deymeer F., Serdaroglu P., Ozdemir C., Poda M., Georgiou D., ...Daha Fazla

Neurogenetics, cilt.3, sa.3, ss.127-32, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 3 Sayı: 3
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1007/s100480100112
  • Dergi Adı: Neurogenetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.127-32
  • İstanbul Üniversitesi Adresli: Evet

Özet

Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of the frataxin (X25) gene. Genetic heterogeneity in FRDA has been previously reported in typical FRDA families that do not link to the FRDA locus on chromosome 9q13. We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype.