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

BMP4基因rs17563位点多态性与中国华东地区部分人群非综合征性唇腭裂的关系 被引量：1

Relationship between nonsyndromic cleft lip with or without cleft palate(NSCL/P) and genetic polymorphisms of BMP4
原文传递
导出
摘要 目的探讨骨形态发生蛋白4(BMP4)基因rs17563位点多态性与中国华东地区部分人群非综合征性唇腭裂(NSCL/P)的关系。方法收集65个唇裂核心家庭血样,分为患儿(患儿组)和患儿父母(父母组)组,另设正常儿童65例为对照组。对BMP4外显子4的rs17563位点突变碱基进行测序。比较患儿与正常儿童中的分布差异,比较患儿组与父母组的基因型和等位基因频率,并对核心家庭的数据进行单倍型相对风险分析(HRR),对含杂合子父母的核心家庭进行传递不平衡检验(TDT)。结果患儿组与对照组的基因型分布差异有统计学意义(P<0.05)。患儿组与父母组各位点基因型和等位基因分布差异无统计学意义(P>0.05),HRR结果和TDT结果无统计学意义(P>0.05)。结论 BMP4基因rs17563位点多态性与中国华东部分人群NSCL/P存在相关性。 Objective To explore the relationship between nonsyndromic cleft with or without cleft palate（NSCL/P） and genetic polymorphism of BMP4 rs17563 in east China. Methods Blood samples were collected from 65 families with nonsyndromic cleft, which were divided into group of A （children with cleft） and B （parents）. The control group was the normal children. The results of BMP4 rs17563 with normal sequence provided by the Genbank were compared, The case control study, Hardy-Weinberg equilibration test and Haplotype Relative Risk （HRR）, Transmission Disequilibrium Test （TDT） were performed in all case-control trials. Results The allele frequency of 65 NSCL/P cases and 65 controls were analyzed throngh case-control study（P^0. 05）. No significant difference in genotypes and alleles distribution between group A and group B were found（P〉0. 05）. The negative results from HRR and TDT analysis were reported（P〉0. 05）. Conclusion The genetic polymorphism of BMP4 rs17563 is associated with the development of NSCL/P, and the genetic polymorohism of BMP4 rs17563 is a oredisoosinlz factor for NSCL/P in east China.
作者 王慧 周小平 崔毓贵 刘嘉茵 万伟东
机构地区 东南大学附属中大医院整形外科 南京医科大学第一附属医院临床生殖医学中心 上海交通大学附属第六人民医院
出处 《江苏医药》 CAS CSCD 北大核心 2012年第8期897-900,共4页 Jiangsu Medical Journal
基金 江苏省卫生厅医学科技发展基金资助项目(H200513)
关键词 非综合征性唇腭裂 骨形态发生蛋白4基因 基因多态性 Nonsyndromic cleft lip with or without cleft palate BMP4 gene Genetic polymorphism
分类号 R782 [医药卫生—口腔医学]
  • 相关文献

参考文献16

  • 1eForrester MB, Merz RD. Descriptive epidemiology of oral clefts in a multiethnic population, Hawaii, 1986-2000 [J]. Cleft Palate Cranilfac, 2004,41 (6) : 622-628.
  • 2Cooper ME, Stone RA, Liu Y, et al. Descriptive epidemiology of nonsyndromic cleft lip with or without cleft palate in Shanghai, China, from 1980 to 1989 [J]. Cleft Palate Craniofac, 2000,37 (3) : 274-280.
  • 3Termaat MF, Den Boer FC, Bakker FC, et al. Bone morpho- genetic proteins: development and clinical efficacy in the treatment of fractures and bone defects[J]. J Bone Joint Surg Am, 2005,87 (6) : 1367-1378.
  • 4Murray JC. Gene/environment causes of cleft lip and orpalate[J]. Clin Gene,2002,61(4):248-256.
  • 5Petkovich M,Brand NJ,Krust A,et al. A human retinoic acid receptor which belongs to the family of muclear receptors[J]. Nature, 1987,330(6147) : 444-450.
  • 6Vieira AR, Avila JR, Daack-Hirsch S, et al. Medical sequen- cing of candidate genes for nonsyndromic cleft lip and palate [J]. PLoS Genet, 2005,1 (6) : e64.
  • 7lchikawa E,Watanabe W, Nakano Y, et al. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses[J]. Hum Genet, 2006, 51(1):38-46.
  • 8Lidral AC, Morenoa LM Progress toward discerning the genetics of cleft lip[J]. Current ()pinion in Pediatrics, 2005, 17(6) :731-739.
  • 9Liu W, Sun X, Braut A, et al. Distinct functions for Bmp signaling in lip and palate fusion in mice[J]. Development, 2005.132(6), 1453-1461.
  • 10Suazo J, Santos JL,Jara L, et al. Association between bone morphogenetic protein 4 gene polymorphisms with non- syndromic cleft lip with or without cleft palate in a Chilean population[J]. DNA Cell Biol, 2010,29 (2) : 59-64.

二级参考文献11

  • 1邱蔚六.口腔颌面外科学（第3版）[M].北京:人民卫生出版社,1995..
  • 2Endriga MC, Kapp - Simon KA. Psychological issues in craniofacialcare:state of the art. Cleft Palate Craniofac J, 1999,36 (1):3 ～ 11
  • 3Wunscher G. Experiences from psychologic word with cleft children and their parents from 1970 to 1980. Stomatol DDR, 1983,33 ( 1 ) :26 ～29
  • 4Dytrych Z,Ty1 J,Schuller V, et al. Psychological and social prob lems in families with children with congenital defects. Cas, Lek Cesk 1990,129(22):678～82
  • 5Pelchat D, Richard N, Bouchard JM. Adaptation of parents in relation to their 6 - month - old infant' s type of disability. Child Care Health Dev, 1999,25(5) :377 ～ 397
  • 6Nwanze HO, Sowemimo. Maternal stress superstition and communica tive behavior with Nigerian cleft lip and palate children. Scan J Plast Reconstr Surg Hand Surg, 1987,21 (1): 158
  • 7Schwaab V. Result of parents counseling within the framework of psychosocial care for families with cleft children. Dtsch Z Mund Kiefer Gesichtschir, 1991 15(2): 153 ～ 155
  • 8Bradbury ET, Hewison J. Early parental adjustment to visible congeni tal disfigurement .Child Care. Health Dev, 1994 20(4) :251 ～ 266
  • 9Pelchat D, Bisson J, Richard N et al. Longitudinal effects of an early family intervention programme on the adaptation of parents of children with a disability. Znt J Nurs Stud 1999,36 (6): 465 ～ 477
  • 10Chapados C. When a child is bom with a cleft lip and palate. Can Nurse 1997,93(1):31 ～36

共引文献13

同被引文献17

  • 1Dai L,Zhu J,Mao M,et al.Time trends in oral clefts in Chinese newborns:data from the Chinese National Birth Defects Monitoring Network.Birth Defects Res A Clin Mol Teratol,2010,88(1):41-47.
  • 2Beaty TH,Ruczinski I,Murray JC,et al.Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.Genet Epidemiol,2011,35(6):469-478.
  • 3Little J,Cardy A,Munger RG.Tobacco smoking and oral clefts:a meta-analysis.Bull World Health Organ,2004,82(3):213-218.
  • 4Leite IC,Koifman S.Oral clefts,consanguinity,parental tobacco and alcohol use:a case-control study in Rio de Janeiro,Brazil.Braz Oral Res,2009,23(1):31-37.
  • 5Jia ZL,Shi B,Chen CH,et al.Maternal malnutrition,environmental exposure during pregnancy and the risk of non-syndromic orofacial clefts.Oral Dis,2011,17(6):584-589.
  • 6Mostowska A,Hozyasz KK,Wojcicki P,et al.Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.Birth Defects Res A Clin Mol Teratol,2010,88(7):538-545.
  • 7Lennon CJ,Birkeland AC,Nu?ez JA,et al.Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations.Laryngoscope,2012,122(9):2082-2087.
  • 8Beaty TH,Taub MA,Scott AF,et al.Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.Hum Genet,2013,132(7):771-781.
  • 9Jianyan L,Zeqiang G,Yongjuan C,et al.Analysis of interactions between genetic variants of BMP-4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility.Int J Oral Maxillofac Surg,2010,39(1):50-56.
  • 10Araújo TK,Simioni M,Félix TM,et al.Preliminary analysis of the nonsynonymous polymorphism rs17563 in BMP-4 gene in Brazilian population suggests protection for nonsyndromic cleft lip and palate.Plast Surg Int,2012,2012:247104.

引证文献1

江苏医药
2012年 第8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