期刊
CLEFT PALATE-CRANIOFACIAL JOURNAL
卷 48, 期 6, 页码 646-653出版社
ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
DOI: 10.1597/10-133
关键词
A34G; MSX1; Nigeria; orofacial clefts
资金
- NCRR NIH HHS [U01 RR24979] Funding Source: Medline
- NIDCR NIH HHS [P50 DE016215, P50 DE-1615, R01 DE008559, DE08559, R37 DE008559] Funding Source: Medline
Background: Orofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria. Subjects and Methods: DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1, IRF6, FOXE1, FGFR1, FGFR2, BMP4, MAFB, ABCA4, PAX7, and VAX1, and the chromosome 8q region. Results: A missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other apparent causative variations were identified. Deviation from Hardy Weinberg equilibrium (HWE) was observed in these cases (p=.00002). A significant difference was noted between the affected side for unilateral CL (p=.03) and bilateral clefts and between clefts on either side (p=.02). A significant gender difference was also observed for CP (p=.008). Conclusions: Replication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the development of CL(P).
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据