Suzuki Yasushi, Jezewski Peter A, Machida Junichiro, Watanabe Yoriko, Shi Min, Cooper Margaret E, Viet Le Thi, Nguyen Thi Duc Tin, Hai Huynh, Natsume Nagato, Shimozato Kazuo, Marazita Mary L, Murray Jeffrey C
Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi-Gakuin University, Nagoya, Japan.
Genet Med. 2004 May-Jun;6(3):117-25. doi: 10.1097/01.gim.0000127275.52925.05.
PURPOSE: To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population. METHODS: In this study, 175 families with at least one case of cleft lip and/or palate were studied using the candidate genes TGFA, MSX1, and TGFB3. RESULTS: Transmission distortion for alleles of MSX1 were demonstrated for the whole population and two missense mutations were identified, including one (P147Q) that is found in approximately 2% of the population. The P147Q appears to arise from a founder individual based on shared haplotypes in unrelated families. CONCLUSIONS: MSX1 contributes to nonsyndromic clefting in a Vietnamese population, and consistent with other studies, identifiable mutations in this gene cause about 2% of cases of nonsyndromic clefting.
目的：确定越南人群中非综合征性唇腭裂的病因。 方法：在本研究中，对175个至少有一例唇裂和/或腭裂病例的家庭使用候选基因TGFA、MSX1和TGFB3进行研究。 结果：在整个人群中证实了MSX1等位基因的传递扭曲，并鉴定出两个错义突变，其中一个（P147Q）在约2%的人群中发现。基于无关家庭中共享的单倍型，P147Q似乎源自一个奠基者个体。 结论：MSX1导致越南人群中的非综合征性腭裂，并且与其他研究一致，该基因中可识别的突变导致约2%的非综合征性腭裂病例。
Cleft Palate Craniofac J. 1997-1
J Dent Res. 2003-4
Am J Hum Genet. 1998-8
Cleft Palate Craniofac J. 2003-5
ASDC J Dent Child. 2001
Front Cell Dev Biol. 2024-2-7
Mol Genet Genomic Med. 2022-10
Birth Defects Res. 2020-11
Mol Genet Genomic Med. 2017-1-17
Zotero 插件