Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome


Silahtaroglu A., Hol F., Jensen P., Erdel M., Duba H., Geurds M., ...Daha Fazla

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.7, ss.68-76, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 7 Konu: 1
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1038/sj.ejhg.5200260
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Sayfa Sayıları: ss.68-76

Özet

The nail patella syndrome (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and skeletal abnormalities. NPS1 has been mapped to 9q34, to a 1 cM interval between D9S315 and the adenylate kinase gene (AK1). We have mapped the breakpoints within the candidate NPS1 region in two unrelated patients with balanced translocations, One patient [46,XY,t(1;9) (q32,1;q34)] was detected during a systematic survey of old cytogenetic files in Denmark and southern Sweden. The other patient [46,XY,t(9;17) (q34,1;q25)] was reported previously D9S315 and AK1 were used to isolate YACs, from which endclones were used to isolate PACs, Two overlapping PAC clones span the 9q34 breakpoints in both patients, suggesting that NPS1 is caused by halopinsufficiency due to truncation or otherwise inactivation of a gene at or in the vicinity of the breakpoints.