PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate
| Autor: | Eduardo E. Castilla, Takehiko Shimizu, José Mauro Granjeiro, Juan C. Mereb, Alexandre R. Vieira, Ariadne Letra, Renato Menezes Silva, Fernando A. Poletta, Iêda M. Orioli |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult medicine.medical_specialty Virus genetics Cleft Lip Locus (genetics) 030105 genetics & heredity Gastroenterology 03 medical and health sciences stomatognathic system Internal medicine Genotype medicine Humans CD155 Child Saliva Cleft lip palate biology business.industry General Medicine Penetrance eye diseases Maternal infection Cleft Palate stomatognathic diseases 030104 developmental biology Otorhinolaryngology Mutation biology.protein Etiology Receptors Virus Surgery business |
| Zdroj: | The Journal of craniofacial surgery. 29(2) |
| ISSN: | 1536-3732 |
| Popis: | The 19q13 locus has been linked to cleft lip and palate by our group and independently by others. Here we fine mapped the region in an attempt to identify an etiological variant that can explain cleft lip and palate occurrence. A total of 2739 individuals born with cleft lip and palate, related to individuals born with cleft lip and palate, and unrelated were studied. We used linkage and association approaches to fine map the interval between D19S714 and D19S433 and genotypes were defined by the use of TaqMan chemistry. We confirmed our previous findings that markers in PVR/CD155 are associated with cleft lip and palate. We studied the mutation Ala67Thr further and calculated its penetrance. We also attempted to detect PVR/CD155 expression in human whole saliva. Our results showed that markers in PVR/CD155 are associated with cleft lip and palate and the penetrance of the Ala67Thr is very low (between 1% and 5%). We could not detect PVR/CD155 expression in adult human whole saliva and PVR/CD155 possibly interacts with maternal infection to predispose children to cleft lip only. |
| Databáze: | OpenAIRE |
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