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. 2000 Apr;37(4):241–244. doi: 10.1136/jmg.37.4.241

A locus for primary ciliary dyskinesia maps to chromosome 19q

M Meeks 1, A Walne 1, S Spiden 1, H Simpson 1, H Mussaffi-Georgy 1, H Hamam 1, E Fehaid 1, M Cheehab 1, M Al-Dabbagh 1, S Polak-Charcon 1, H Blau 1, A O'Rawe 1, H Mitchison 1, R Gardiner 1, E Chung 1
PMCID: PMC1734555  PMID: 10745040

Abstract

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.


Keywords: cilia; Kartagener syndrome; linkage; 19q

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Selected References

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