Do Orofacial Clefts Represent Different Genetic Entities?
| Autor: | Anke Schwandt, Christiane Maier, Sibylle Brosch, Walther Vogel, Manuel Lüdeke, Josef Högel, Rudolf Reiter, Stephan Haase, Anja Pickhard, Antje E. Rinckleb, Elena Fischbein |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Candidate gene Adolescent Cleft Lip Polymorphism Single Nucleotide Germany Humans Medicine Genetic Predisposition to Disease Family history Child Index case Alleles Genetic Association Studies Genetics Orthodontics business.industry Middle Aged Cleft Palate Otorhinolaryngology Case-Control Studies Child Preschool Submucous cleft palate Female Oral Surgery business |
| Zdroj: | The Cleft Palate-Craniofacial Journal. 52:115-120 |
| ISSN: | 1545-1569 1055-6656 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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