华西口腔医学杂志

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宁夏回汉族人群Wnt3基因单核苷酸多态性与非综合征型唇腭裂相关性的研究

信燕华1,2  马丽娟1,2  翟堃1,2  周忠伟1,2  杨雄1,2  马坚3  王怡瑞4 朱晋芳3  姜敏3,5  黄永清1,2,3   

  1. 1.宁夏医科大学口腔医学院; 2.宁夏口腔医学研究所;3.宁夏医科大学总医院口腔颌面外科, 银川750004; 4.生物芯片北京国家工程研究中心, 北京102206;5.生物芯片北京国家工程研究中心宁夏分中心, 银川750004
  • 出版日期:2013-08-01 发布日期:2013-08-01
  • 通讯作者: 黄永清,Tel:13995416162
  • 作者简介: 信燕华(1986—),女,河南人,住院医师,硕士

Association between single nucleotide polymorphism in Wnt3 and nonsyndromic cleft lip with or without cleft palate in Hui and Han population of Ningxia Autonomous Region

Xin Yanhua1,2, Ma Lijuan1,2, Zhai Kun1,2, Zhou Zhongwei1,2, Yang Xiong1,2, Ma Jian3, Wang Yirui4, Zhu Jinfang3, Jiang Min3,5, Huang Yongqing1,2,3.   

  1. 1. College of Stomatology, Ningxia Medical University, Yinchuan 750004, China; 2. The Ningxia Oral Medicine Institute, Yinchuan 750004, China; 3. Dept. of Oral and Maxillofacial Surgery, General Hospital of Ningxia Medical University, Yinchuan 750004, China; 4. Beijing Biochip National Engineering Research Center, Beijing 102206, China; 5. Ningxia Sub-centers of Beijing Biochip National Engineering Research Center, Yinchuan 750004, China
  • Online:2013-08-01 Published:2013-08-01

摘要:

 目的  探讨宁夏回汉族人群中Wnt3基因rs142167和rs7216231位点单核苷酸多态性(SNP)与非综合征型唇腭裂(NSCL/P)的相关性。方法  收集宁夏地区回汉族人群非综合征型唇腭裂患者371例为病例组,其中汉族患者166例,回族患者205例;收集患者父亲196例,患者母亲224例,其中150例患者为NSCL/P核心家系;258例健康新生儿为对照组,其中汉族190例,回族68例。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测Wnt3基因多态位点rs142167和rs7216231基因型,对比分析2组的基因型和等位基因,并进行传递不平衡检验(TDT)和以家系为基础的相关性检验(FBAT)分析。结果  回汉族人群病例组与对照组比较及其民族分层比较,唇裂、腭裂、唇腭裂及总病例组rs142167和rs7216231位点均无统计学差异(P>0.05)。TDT分析结果显示:rs142167和rs7216231位点的等位基因均不存在过传递(P>0.05)。FBAT分析结果显示:单倍型G-G具有统计学意义(P<0.05)。结论  Wnt3基因多态性与宁夏地区回汉族人群非综合征型唇腭裂不存在相关性。

关键词:  非综合征型唇腭裂, Wnt3, 单核苷酸多态性

Abstract:

Objective  To investigate the association between rs142167, rs7216231 single nucleotide polymorphism(SNP) in Wnt3 and nonsyndromic cleft lip and palate(NSCL/P) in Hui and Han population of Ningxia Autonomous Region. Methods  The study consisted of 371 NSCL/P patients from Ningxia Hui and Han population(Han population 166, Hui population 205), their parents(196 fathers, 224 mothers, 150 trios) and 258 normal controls(Han population 190, Hui population 68). Polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP) was used to identify rs142167, rs7216231 genotypes of the samples. The data was analyzed by case-control analysis, transmission disequilibrium test(TDT) and family based associated test(FBAT). Results  Case-control study showed that no differences in cleft lip, cleft palate, cleft lip and palate, and the total case group compared with the control group at rs142167 and rs7216231(P>0.05) in Hui and Han population and in stratified comparison. TDT test showed that rs142167 and rs7216231’s allele had not over-transmitted(P>0.05) in NSCL/P. FBAT test showed that G-G specific haplotypes showed statistically significant(P<0.05). Conclusion  Wnt3 gene polymorphism is not relevant with NSCL/P in Ningxia Hui and Han population.

Key words: nonsyndromic cleft lip with or without cleft palate, Wnt3, single nucleotide polymorphism