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 Jeganathan^1,*, R Chodhari^1,*, M Meeks^1,, 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:
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

Accepted 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 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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