Document Detail

No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees.
MedLine Citation:
PMID:  17908356     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The aetiology of otosclerosis is complex, and probably involves an interaction between genes and environmental factors. Previous studies have revealed genetic linkage with a number of chromosome regions, including position 7q33-36. AIM: To confirm whether linkage exists between otosclerosis and chromosome region 7q33-36. MATERIALS AND METHODS: Seven multiply affected families were ascertained. Deoxyribonucleic acid from members of these families was extracted, and six markers were genotyped to cover a 16 cM region at 7q33-36. Both parametric and non-parametric multipoint linkage analyses were performed. RESULTS: Parametric multipoint linkage analysis excluded any linkage at 7q33-36 (logarithm of odds score <-4.0). Non-parametric linkage analysis also failed to confirm any linkage (non-parametric linkage < 1.66). When tested individually, pedigree four was the only one to show a significant non-parametric linkage score between D7s684 and D7s2513 (non-parametric linkage = 1.96). CONCLUSION: No linkage was detected between otosclerosis and the 7q33-36 region. This could be explained by the study's lack of power, due to the limited number of families available.
F Q Alzoubi; W R Ollier; R T Ramsden; S R Saeed
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-10-02
Journal Detail:
Title:  The Journal of laryngology and otology     Volume:  121     ISSN:  1748-5460     ISO Abbreviation:  J Laryngol Otol     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-12-12     Completed Date:  2008-03-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8706896     Medline TA:  J Laryngol Otol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1140-7     Citation Subset:  AIM; IM    
Otolaryngology Department, Jordan University of Science and Technology, Irbid, Jordan.
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MeSH Terms
Chromosomes, Human, Pair 7 / genetics*
Genetic Predisposition to Disease
Linkage (Genetics)
Lod Score
Microsatellite Repeats
Otosclerosis / genetics*

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