期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

1个河南van Der Woude综合征家系IRF6基因的突变检测 被引量：1

IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province
下载PDF
导出
摘要 目的:对1个河南省vanDerWoude综合征(VWS)家系进行IRF6基因的突变检测。方法:在IRF6(interferonregulatoryfactor6)基因内设计引物,经分段PCR(聚合酶链反应)和DNA测序,进行突变检测,运用PIX-ProteinIdentification软件对检测结果进行蛋白二级结构分析。结果:在该家系所有患者IRF6基因的第6密码子,均发现与表型一致的CGC>TGC(r.279c→t)突变,该突变引起IRF6蛋白二级预测结构的改变。结论:vanDerWoude综合征由IRF6基因突变引起,IRF6基因与唇、腭、牙的发育密切相关。 PURPOSE:To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province. METHODS: PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software. RESULTS: A CGC > TGC(r.279c→t) transversion of IRF6 was identified in condon 6, showing complete segregation with the disease phenotypes and was resulting in changes of the secondary constructure of IRF6. CONCLUSION: VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth.
作者 王晓方 肖明振 史俊南 张海兵 胡蓝靛 孔祥银
机构地区 第四军医大学口腔医学院 中国科学院生命科学院健康科学中心
出处 《上海口腔医学》 CAS CSCD 2005年第3期234-237,共4页 Shanghai Journal of Stomatology
关键词 VAN Der Woude综合征 缺牙 腭裂 突变 van Der Woude syndrome Hypodontia Cleft palate Mutation
分类号 R782 [医药卫生—口腔医学]
  • 相关文献

参考文献10

  • 1Bocian M, Walker AP. Lip pits and deletion 1q32-41 [J]. Am J Med Genet,1987, 26(2): 437-443.
  • 2Schutte BC, Bjork BC, Coppage KB, et al. A preliminary gene map for the van Der Woude syndrome critical region derived from 900 kb of genomic sequence at lq32-q41[J]. Genome Res, 2000,10(1):81-94.
  • 3Kondo S, Schutte BC, Richardson R J, et al. Mutations in IRF6 cause van Der Woude and popliteal pterygium syndromes[J]. Nat Genet. 2002,32:285-289.
  • 4Eastman JR, Bixler D, Eseobar V. Linkage studies in van Der Woude syndrome[J]. J Med Genet, 1978,15(3):217-218.
  • 5Murray JC, Nishimura DY, Buetow KH, et al. Linkage of an autosomal dominant clefting syndrome (van Der Woude) to loci on chromosome Iq[J]. Am J Hum Genet,1990,46(3):486-491.
  • 6Sander A, Moser H, Liechti-Gallati S, et al. Linkage of van Der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFβ2 from the disease locus in a large pedigree [J]. Hum Genet, 1993,91(1):55 -62.
  • 7Sander A, Schmelzle R, Murray J. Evidence for a microdeletion in 1q32-41 involving the gene responsible for van Der Woude syndrome[J]. Hum Mol Genet,1994,3(4):575-578.
  • 8Sander A, Murray JC, Scherpbier-Heddema T, et al. Microsatellite-based fine mapping of the van Der Woude syndrome locus to an interval of 4.1 cm between DIS245 and DIS414[J]. Am J Hum Genet, 1995,56(1):310-318.
  • 9Schutte BC, Sander A, Malik M, et al. Refinement of the van Der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41 [J].Genomics, 1996,36(3):507-514.
  • 10Hatada S, Kinoshita M, Takahashi S, et al. An interferon regulatory factor-related gene (xlRF-6) is expressed in the posterior mesoderm during the early development of Xenopus laevis [J].Gene,1997, 12(203):183-188.

同被引文献24

  • 1Bayrak-Toydemir P, Mao R, Lewin S,et al.Hereditary hemorrhagic telangiect&sia: An overview of diagnosis and management in the molecular era for clinicians[R].Genet in Med, 2004,6(4):175-191.
  • 2Ars E, Kruyer H, Morell M, et al. Recurrent mutation in the NF1 gene are common among neurofibromatosis type I Patients[J].J Med Genet,2003,40(6):e82.
  • 3Tanilka M, Takahashi K, Kawabata T, et al. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome [J]. Arch Dermatol Res, 2005,296(7):303-308.
  • 4Ueki Y, Tiziani V, Santanna C, et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism[J]. Nat Genet. 2001,28(2):125-126.
  • 5Bergwitz C, Prochnau A, Mayr B, et al. Identification of novel CBFAI/RUNX2 mutations causing clerdocranial dysplasia (J). J Inherit Metab Dis, 2001,24(6): 648-656.
  • 6Mary L, Marazita L Field Let al. Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families[J]. Am J Hum Genet. 2002,71(2):349-364.
  • 7Pezzetti F,Scapoli L, Martinelli M,et al. Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial omfacial cleft[J]. Ann J Hum Genet, 2000,64(pt4):341-347.
  • 8Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts [J].Hum Mol Genet, 2004, 13(Review Issue 1): R73-81.
  • 9Hart PS, Hart TC, Michalec MD,et al. Mutation in kallikrein 4 causes autosornal recessive hypomaturation arnelogenesis imperrecta[J]. J Med Genet, 2004,41(7):545-549.
  • 10Kim JW, Seymen F, Lin BP, et al. ENAM mutations in autosomal-dominant amelogenesis imperfecta[J]. J Dent Res, 2005,84(3):278-282.

引证文献1

二级引证文献4

上海口腔医学
2005年 第3期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部