Major gene determination of liability to cleft lip with or without cleft palate: a multiracial view.
Major gene determination of liability to cleft lip with or without cleft palate: a multiracial view.
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主要基因决定唇裂伴或不伴腭裂的易感性：多种族观点。
DOI：
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发表时间：
1986
期刊：
影响因子：
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通讯作者：
M. Melnick
中科院分区：
文献类型：
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作者：
M. Marazita;M. Spence;M. Melnick
尽管近半个世纪的深入研究，非综合征性唇腭裂（CL +/- P）的病因仍然未知，因为大多数研究是描述性的，而不是分析。本研究总结了来自丹麦、英国伦敦和中国上海的非综合征型CL +/- P手术先证者家族中CL +/- P的严格分析。从结果中可以得出三个主要结论。数据不支持Carter（1976）总结的多因素阈值模型，该模型最常用于解释CL +/-P的病因。每个数据集都提供了证据，表明至少在一部分病例中可能存在CL +/- P易感性的主要基因。数据与CL +/-P可能的遗传异质性一致。
Despite nearly half a century of intensive investigation, the etiology of non-syndromic cleft lip with or without cleft palate (CL +/- P) remains unknown because most studies have been descriptive rather than analytic. This study summarizes rigorous analyses of CL +/- P in the families of non-syndromic, CL +/- P surgical probands from three populations: Denmark, London, England, and Shanghai, China. Three main conclusions could be drawn from the results. The data provide no support for the multifactorial threshold model summarized by Carter (1976) and most often proposed to explain the etiology of CL +/- P. Each dataset provides evidence that there may be a major gene for liability to CL +/- P in at least a portion of cases. The data are consistent with possible genetic heterogeneity in CL +/- P.