Document Detail

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.
MedLine Citation:
PMID:  11062149     Owner:  NLM     Status:  MEDLINE    
Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. The disease is usually inherited as an autosomal recessive trait. To identify a gene locus for PCD, we studied a large consanguineous family of Arabic origin. Direct examination of the respiratory cilia revealed ciliary akinesia. Electron microscopic examination of cilia showed absence of the outer dynein arms. Two of four affected individuals exhibited a situs inversus, typical for Kartagener syndrome, due to randomization of the left/right body axis. A total genome scan with 340 highly polymorphic microsatellites was performed. We localized a new gene locus for PCD to a region of homozygosity by descent on chromosome 5p15-p14 with a parametric multipoint logarithm of odds ratio (LOD) score of Zmax = 3.51 flanked by markers D5S2095 and D5S502 within an interval of 20 centimorgans sex-averaged genetic distance. Applying a polymerase chain reaction-based approach, we identified a 1.5-kb partial complementary DNA of DNAH5 encoding a Chlamydomonas-related axonemal heavy dynein chain within the critical disease interval of this new PCD locus. On the basis of the Chlamydomonas model for PCD, this gene represents an excellent candidate for PCD.
H Omran; K Häffner; A Völkel; J Kuehr; U P Ketelsen; U H Ross; N Konietzko; T Wienker; M Brandis; F Hildebrandt
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of respiratory cell and molecular biology     Volume:  23     ISSN:  1044-1549     ISO Abbreviation:  Am. J. Respir. Cell Mol. Biol.     Publication Date:  2000 Nov 
Date Detail:
Created Date:  2000-12-12     Completed Date:  2000-12-12     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8917225     Medline TA:  Am J Respir Cell Mol Biol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  696-702     Citation Subset:  IM    
University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg, Germany.
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MeSH Terms
Amino Acid Sequence
Chromosome Mapping*
Chromosomes, Human, Pair 5*
Ciliary Motility Disorders / genetics*
Dyneins / genetics*
Genetic Markers
Linkage (Genetics)
Molecular Sequence Data
Sequence Alignment
Reg. No./Substance:
0/Genetic Markers; EC

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