Details

Autor(en) / Beteiligte

• Meeks, M
• Walne, A
• Spiden, S
• Simpson, H
• Mussaffi-Georgy, H
• Hamam, H D
• Fehaid, E L
• Cheehab, M
• Al-Dabbagh, M
• Polak-Charcon, S
• Blau, H
• O'Rawe, A
• Mitchison, H M
• Gardiner, R M
• Chung, E

Titel

A locus for primary ciliary dyskinesia maps to chromosome 19q

Ist Teil von

• Journal of medical genetics, 2000-04, Vol.37 (4), p.241-244

Ort / Verlag

London: BMJ Publishing Group Ltd

Erscheinungsjahr

2000

Link zum Volltext

Quelle

Elektronische Zeitschriftenbibliothek (Open access)

Beschreibungen/Notizen

• Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at α (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity.