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Journal of Medical Genetics 2004;41:233-240
© 2004 BMJ Publishing Group Ltd


LETTER TO JMG

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates

D Jeganathan1,*, R Chodhari1,*, M Meeks1,{dagger}, O Færoe2, D Smyth3, K Nielsen4, I Amirav5, A S Luder5, H Bisgaard6, R M Gardiner1, E M K Chung1, H M Mitchison1

1 Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, UK
2 Landssjukrahusid, Department of Paediatrics, Torshavn, Faroe Island
3 MRC Geneservice, Babraham Bioincubator, Babraham, Cambridge, UK
4 Pulmonary Service, Department of Paediatrics, Righospitalet, National University Hospital, Copenhagen, Denmark
5 Paediatric Pulmonary Unit, Sieff Hospital, Safed, Israel
6 COPSAC Clinical Research Unit, Copenhagen University Hospital, Gentofte, Copenhagen, Denmark

Correspondence to:
Dr Hannah Mitchison
Department of Paediatrics and Child Health, Royal Free and University College Medical School, Rayne Building, 5 University Street, London WC1E 6JJ; hmitchis@ucl.ac.uk] Received 8 September 2003
Revised version received 24 October 2003
20 November 2003

Keywords: cilia; genetic heterogeneity; genetic linkage; laterality; primary ciliary dyskinesia

Abbreviations: PCD, primary ciliary dyskinesia

The first 150 words of the full text of this article appear below.

Primary ciliary dyskinesia (PCD; Immotile cilia syndrome; OMIM 242650) is an autosomal recessive disorder resulting from dysmotility of cilia and sperm flagella.1 Cilia and flagella function either to create circulation of fluid over a stationary cell surface or to propel a cell through fluid.2,3 These related structures are highly complex organelles composed of over 200 different polypeptides.4,5 The core or axoneme of cilia and flagella comprises a bundle of microtubules and many associated proteins. The microtubules are formed from {alpha} and ß tubulin protofilaments and are arranged in a well recognised ‘9+2’ pattern: nine peripheral microtubule doublets in a ring connected around a central pair of microtubules by radial spoke proteins. The peripheral microtubules have dynein motor proteins attached and are connected with each other by nexin links.6–8

In human beings, ciliated epithelium can be found lining the respiratory tract, including the sinuses and middle ear, the brain ependyma, the female . . . [Full text of this article]




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