CLEFT-LIP (PLUS-OR-MINUS CLEFT-PALATE) IN DANISH TWINS, 1970-1990
CLEFT-LIP (PLUS-OR-MINUS CLEFT-PALATE) IN DANISH TWINS, 1970-1990
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DOI：
10.1002/ajmg.1320470620
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发表时间：
1993-11-01
期刊：
影响因子：
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通讯作者：
FOGHANDERSEN, P
中科院分区：
文献类型：
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作者：
CHRISTENSEN, K;FOGHANDERSEN, P
经典的双生子研究是解决基因和环境在唇腭裂病因中的作用这一悬而未决的问题的最佳方法之一。此外，当双胞胎一致率与CL（P）的风险信息相结合，以更远的亲戚，他们可以帮助建立CL（P）的最可能的遗传方式。本研究是基于1970年至1990年期间在丹麦的三个全国范围内的双胞胎CL（P）的确定来源。丹麦的手术文件被发现适合于确定双胞胎与非综合征CL（P）和共39对被确定通过这些文件。在超过70%的病例中，接合性分配是基于不相似的性别或广泛的血液，血清和酶类型。发现单卵和双卵双胞胎CL（P）病例比预期的多，尽管差异不显著。CL（P）的先证者一致率在单卵双胞胎中为60%，在双卵双胞胎中为10%; 6例病例的卵型未知。这一发现表明，遗传因素在CL（P）的病因中起主要作用，但环境和/或随机因素也可能起作用，当Mitchell和Risch [1992：Am J Genet 51：323-332]分析的家族复发模式根据这些新的单合子一致性估计值进行解释时，它们为以下发现提供了进一步的证据：没有一个单一的基因座可以解释一级亲属风险增加6倍以上。(C)1993 Wiley-Liss，Inc.
A classical twin study is one of the best methods to address the open question of the role of genes and environment in the cause of cleft lip with or without cleft palate [CL(P)]. In addition, when twin concordance rates are combined with information about the risk for CL(P) to more remote relatives, they can help to establish the most likely mode of inheritance for CL(P).The present study was based on three nation wide ascertainment sources of CL(P) in twins in Denmark during the period 1970-1990. The Danish surgical files were found suitable for ascertaining twins with non-syndromic CL(P) and a total of 39 pairs was identified through these files. In more than 70% of the cases, the zygosity assignment was based on unlike-sex or an extensive panel of blood, serum, and enzyme types. More mono- and dizygotic twin CL(P) cases than expected were found, although the difference was not significant. The proband concordance rate for CL(P) was 60% in monozygotic twins and 10% in dizygotic twins; six cases were of unknown zygosity. This finding indicates that genetic factors play a major role in the cause of CL(P) but environmental and/or stochastic factors are probably acting too.When the familial recurrence patterns analyzed by Mitchell and Risch [1992: Am J Hum Genet 51:323-332] are interpreted in light of these new estimates of monozygotic concordance, they provide further evidence for the finding that no single locus can account for more than a six-fold increase in risk to first-degree relatives. (C) 1993 Wiley-Liss, Inc.