中国组织工程研究

中国组织工程研究 ›› 2010, Vol. 14 ›› Issue (28): 5301-5304.doi: 10.3969/j.issn.1673-8225.2010.28.041

• 组织构建临床实践 clinical practice in tissue construction • 上一篇    下一篇

中国山西省部分地区人群肌节同源型结构域1基因与非综合征性唇腭裂的关联性

阴旭斌1，陈显久2，南欣荣2   

  1. 1山西医科大学口腔医学院，山西省太原市  030001；2 山西医科大学第一附属医院口腔科，山西省太原市  030001
  • 出版日期:2010-07-09 发布日期:2010-07-09
  • 通讯作者: 南欣荣，硕士，硕士生导师，教授，主任医师，山西医科大学第一附属医院口腔科，山西省太原市 030001 xr_nan@sina.com
  • 作者简介:阴旭斌★，男，1981年生，山西省太原市人，汉族，2008年山西医科大学毕业，硕士，主要从事口腔颌面外科疾病的研究。 woshixiaoyin@126.com
  • 基金资助:

    太原市科技计划项目(085191)。

Correlation between muscle segment homeobox 1 gene and non-syndromic cleft lip and palate in parts of Shanxi Province

Yin Xu-bin1, Chen Xian-jiu2, Nan Xin-rong2   

  1. 1 Stomatological College of Shanxi Medical University, Taiyuan  030001, Shanxi Province, China; 2 Department of Stomatology, First Affiliated Hospital of Shanxi Medical University, Taiyuan  030001, Shanxi Province, China
  • Online:2010-07-09 Published:2010-07-09
  • Contact: Nan Xin-rong, Master, Master’s supervisor, Professor, Chief physician, Department of Stomatology, First Affiliated Hospital of Shanxi Medical University, Taiyuan 030001, Shanxi Province, China xr_nan@sina.com
  • About author:Yin Xu-bin★, Master, Stomatological College of Shanxi Medical University, Taiyuan 030001, Shanxi Province, China woshixiaoyin@126.com
  • Supported by:

    the Science and Technology Planning Project of Taiyuan City, No. 085191*

PDF

481

被引次数

4

摘要：

背景：有研究认为肌节同源型结构域1基因突变可能与非综合征性唇腭裂发生有关，然而针对中国人群的相关研究则少有报道。
目的：探讨肌节同源型结构域1基因编码区外显子后端和3’端部分非编码区的基因突变与中国山西部分人群非综合征性唇腭裂的关联性。
方法：采用随机化方法收集2007-05/2008-01山西医科大学第一医院口腔科收治的130例非综合征性唇腭裂患者口腔裂隙处黏膜和130例正常人口腔黏膜，提取肌节同源型结构域1基因测序进行病理对照研究。
结果与结论：非综合征性唇腭裂组中肌节同源型结构域1基因的表达水平低于对照组(P < 0.01)，说明在非综合征性唇腭裂组中，肌节同源型结构域1基因表达水平呈现出下调趋势；实验对两组中肌节同源型结构域1基因表达产物进行基因测序，Logistic回归分析结果显示(AA/AT904)β=-3.74，(GG/GAA1389) β=-22.18，在被引入的变量中，进入方程的危险因素位点是AA/AT904和GG/GAA1389，说明在非综合征性唇腭裂患者中呈下调表达趋势的肌节同源型结构域1基因变异位点可能是AA/AT904和GG/GAA1389。由此推断肌节同源型结构域1基因编码区外显子后端和3’端部分非编码区的基因突变与中国山西部分地区非综合征性唇腭裂的发生具有关联性。

关键词: 非综合征性唇腭裂, 肌节同源型结构域1基因, 突变, 关联性, 病例-对照

Abstract:

BACKGROUND: Previous studies considered that muscle segment homeobox 1 (MSX1) gene related to non-syndromic cleft lip and palate (NSCL/P). However, researches for the report on Chinese have not been seen.
OBJECTIVE: To study relevance of MSX1 gene mutation and NSCL/P pathogenesis in Shanxi province of China.
METHODS: Oral mucosa from 130 patients received treatment at the Department of Stomatology, First Affiliated Hospital of Shanxi Medical University from May 2007 to January 2008 were included, meantime, 130 normal control ones were selected. The MSX 1 gene of two groups were sequenced and compared. 
RESULTS AND CONCLUSION: The MSX 1 gene expression level was lower in the NSCL/P group than that in the control group (P < 0.01), which showed that MSX 1 gene expression level has shown a downward trend in the in the NSCL/P group. Then the MSX 1 gene products of two groups were sequenced. Logistic regression analysis showed that (AA/AT904)β=-3.74, (GG/GAA1389)β=-22.18, the variable being introduced into the equation of risk factors were AA/AT904 and GG/GAA1389, which was illustrated that in the NSCL/P patients, down-regulated expression of MSX 1 gene variants were AA/AT904 and GG/GAA1389. All results suggested that MSX 1 gene mutation at coding regions of C-terminal side of the homeodomain protein and exon 3’ end of noncoding region has correlation to NSCL/P.

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