PVR/CD155 Ala67Thr突变与唇腭裂

PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate.

作者信息

Vieira Alexandre R, Letra Ariadne, Silva Renato M, Granjeiro Jose M, Shimizu Takehiko, Poletta Fernando A, Mereb Juan C, Castilla Eduardo E, Orioli Iêda M

机构信息

Departments of Oral Biology and Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA.

Department of Endodontics, School of Dentistry, University of Texas Health Science Center at Houston, Houston, TX.

出版信息

J Craniofac Surg. 2018 Mar;29(2):347-352. doi: 10.1097/SCS.0000000000004159.

DOI:10.1097/SCS.0000000000004159

PMID:29381645

Abstract

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.

摘要

我们团队以及其他研究小组均已将19q13位点与唇腭裂联系起来。在此，我们对该区域进行精细定位，试图找出一个能够解释唇腭裂发生原因的变异体。我们共研究了2739例唇腭裂患者、与唇腭裂患者有亲缘关系的个体以及无亲缘关系的个体。我们采用连锁分析和关联分析方法对D19S714和D19S433之间的区间进行精细定位，并使用TaqMan化学方法确定基因型。我们证实了之前的发现，即PVR/CD155中的标记与唇腭裂相关。我们进一步研究了Ala67Thr突变并计算其外显率。我们还尝试检测人全唾液中PVR/CD155的表达。我们的结果表明，PVR/CD155中的标记与唇腭裂相关，且Ala67Thr的外显率非常低（介于1%至5%之间）。我们未能在成人全唾液中检测到PVR/CD155的表达，且PVR/CD155可能仅与母体感染相互作用，使儿童易患唇裂。