The Journal of laryngology and otology · 2007
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees.
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Alzoubi F Q, Ollier W R, Ramsden R T, Saeed S R
Аннотация
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.
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.