口腔面部裂隙代表不同的遗传实体吗？
Do orofacial clefts represent different genetic entities?
作者信息
Reiter Rudolf, Brosch Sibylle, Lüdeke Manuel, Fischbein Elena, Rinckleb Antje, Haase Stephan, Schwandt Anke, Pickhard Anja, Maier Christiane, Högel Josef, Vogel Walther
出版信息
Cleft Palate Craniofac J. 2015 Jan;52(1):115-20. doi: 10.1597/13-016.
OBJECTIVE
To contribute to the understanding of potential genetic differences between different cleft types.
METHOD
Analysis of family history concerning cleft type and search for cleft-type-specific associations in candidate genes performed in 98 individuals from 98 families.
RESULTS
In a given family, the cleft type of a second case was more often identical to the index case than expected by chance. Each type of cleft (cleft lip [CL], cleft lip and palate [CLP], cleft palate only [CP], and submucous cleft palate only [SMCP]) was associated with different genes.
CONCLUSION
Family history indicates some specificity of cleft types. The observed phenotype-genotype associations were compatible with this interpretation in that significant associations occurred with disjoint sets of genes in each cleft type. These observations indicate that CL, CLP, CP, and SMCP might represent genetically different entities.
目的
促进对不同类型腭裂潜在基因差异的理解。
方法
分析98个家庭中98名个体的腭裂类型家族史，并在候选基因中寻找腭裂类型特异性关联。
结果
在特定家庭中，第二例病例的腭裂类型比偶然预期的更常与索引病例相同。每种腭裂类型（唇裂[CL]、唇腭裂[CLP]、仅腭裂[CP]和仅黏膜下腭裂[SMCP]）都与不同基因相关。
结论
家族史表明腭裂类型具有一定特异性。观察到的表型-基因型关联与这种解释相符，因为每种腭裂类型中与不相交的基因集存在显著关联。这些观察结果表明，CL、CLP、CP和SMCP可能代表基因上不同的实体。
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