No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees

F. Q. Alzoubi, W. R. Ollier, R. T. Ramsden, S. R. Saeed

    Research output: Contribution to journalArticlepeer-review


    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. © 2007 JLO (1984) Limited.
    Original languageEnglish
    Pages (from-to)1140-1147
    Number of pages7
    JournalThe Journal of laryngology and otology
    Issue number12
    Publication statusPublished - Dec 2007


    • Chromosomes
    • Genetic Linkage
    • Genetics
    • Human
    • Lod Score
    • Otosclerosis
    • Pair 7


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