{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T03:16:35Z","timestamp":1648869395248},"reference-count":30,"publisher":"Cambridge University Press (CUP)","issue":"12","license":[{"start":{"date-parts":[[2007,10,2]],"date-time":"2007-10-02T00:00:00Z","timestamp":1191283200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Laryngol. Otol."],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S0022215107000655_sec1\"><jats:title>Background:<\/jats:title><jats:p>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\u201336.<\/jats:p><\/jats:sec><jats:sec id=\"S0022215107000655_sec2\"><jats:title>Aim:<\/jats:title><jats:p>To confirm whether linkage exists between otosclerosis and chromosome region 7q33\u201336.<\/jats:p><\/jats:sec><jats:sec id=\"S0022215107000655_sec3\"><jats:title>Materials and methods:<\/jats:title><jats:p>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\u201336. Both parametric and non-parametric multipoint linkage analyses were performed.<\/jats:p><\/jats:sec><jats:sec id=\"S0022215107000655_sec4\"><jats:title>Results:<\/jats:title><jats:p>Parametric multipoint linkage analysis excluded any linkage at 7q33\u201336 (logarithm of odds score &lt;\u22124.0). Non-parametric linkage analysis also failed to confirm any linkage (non-parametric linkage &lt;\u00a01.66). When tested individually, pedigree four was the only one to show a significant non-parametric linkage score between D7s684 and D7s2513 (non-parametric linkage\u00a0=\u00a01.96).<\/jats:p><\/jats:sec><jats:sec id=\"S0022215107000655_sec5\"><jats:title>Conclusion:<\/jats:title><jats:p>No linkage was detected between otosclerosis and the 7q33\u201336 region. This could be explained by the study's lack of power, due to the limited number of families available.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0022215107000655","type":"journal-article","created":{"date-parts":[[2007,10,2]],"date-time":"2007-10-02T08:19:41Z","timestamp":1191313181000},"page":"1140-1147","source":"Crossref","is-referenced-by-count":4,"title":["No evidence of linkage between 7q33\u201336 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees"],"prefix":"10.1017","volume":"121","author":[{"given":"F Q","family":"Alzoubi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W R","family":"Ollier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R T","family":"Ramsden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S R","family":"Saeed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2007,10,2]]},"reference":[{"key":"S0022215107000655_ref5","doi-asserted-by":"publisher","DOI":"10.1177\/000348948409300104"},{"key":"S0022215107000655_ref14","doi-asserted-by":"publisher","DOI":"10.1086\/318185"},{"key":"S0022215107000655_ref18","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(02)00679-8"},{"key":"S0022215107000655_ref29","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100072698"},{"key":"S0022215107000655_ref24","doi-asserted-by":"publisher","DOI":"10.1086\/301904"},{"key":"S0022215107000655_ref11","first-page":"1","volume-title":"Otolaryngology","volume":"2","author":"Shambaugh","year":"1956"},{"key":"S0022215107000655_ref21"},{"key":"S0022215107000655_ref27","first-page":"277","article-title":"Sequential tests for the detection of linkage","volume":"7","author":"Morton","year":"1955","journal-title":"Am J Hum Genet"},{"key":"S0022215107000655_ref26","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: a unified multipoint approach","volume":"58","author":"Kruglyak","year":"1996","journal-title":"Am J Hum Genet"},{"key":"S0022215107000655_ref1","first-page":"426","article-title":"The genetics of otosclerosis: a review","volume":"10","author":"Gordon","year":"1989","journal-title":"Am J Otol"},{"key":"S0022215107000655_ref6","first-page":"536","article-title":"Mixed hearing loss in otosclerosis: indication for long-term follow-up","volume":"15","author":"Ramsay","year":"1994","journal-title":"Am J Otol"},{"key":"S0022215107000655_ref9","first-page":"111","article-title":"A genetic study of otosclerosis in a population living in the north of Tunisia","volume":"36","author":"Ben Arab","year":"1993","journal-title":"Ann Genet"},{"key":"S0022215107000655_ref25","unstructured":"25 SPLINK Linkage analysis program. http:\/\/www-gene.cimr.cam.ac.uk\/clayton\/software\/ [15 December 2006]"},{"key":"S0022215107000655_ref28","first-page":"1","article-title":"A genetic and clinical study","volume":"154","author":"Larsson","year":"1960","journal-title":"Acta Otolaryngol Suppl"},{"key":"S0022215107000655_ref10","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100050933"},{"key":"S0022215107000655_ref12","doi-asserted-by":"crossref","first-page":"124","DOI":"10.3109\/00016488909138366","article-title":"Immunohistochemistry of otosclerosis","volume":"470","author":"Arnold","year":"1990","journal-title":"Acta Otolaryngol Suppl"},{"key":"S0022215107000655_ref3","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200109000-00006"},{"key":"S0022215107000655_ref4","doi-asserted-by":"publisher","DOI":"10.1177\/000348949410301204"},{"key":"S0022215107000655_ref13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.285"},{"key":"S0022215107000655_ref16","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.132.4.416"},{"key":"S0022215107000655_ref17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018671"},{"key":"S0022215107000655_ref2","doi-asserted-by":"publisher","DOI":"10.3109\/00016489109100763"},{"key":"S0022215107000655_ref8","first-page":"211","article-title":"Otospongiosis as a genetic disease. 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