中国组织工程研究

中国组织工程研究 ›› 2015, Vol. 19 ›› Issue (37): 6064-6068.doi: 10.3969/j.issn.2095-4344.2015.37.029

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

IRF6基因与新疆地区维吾尔人群非综合征性唇腭裂：基于二代测序技术的分析

古 丽，比力克孜•玉素甫2，艾尼瓦尔•米吉提1，阿地力•莫明1   

  1. 1新疆医科大学第一附属医院颌面外科，新疆维吾尔自治区乌鲁木齐市   830054； 2喀什地区第一人民医院颌面外科，新疆维吾尔自治区喀什地区  844000
  • 出版日期:2015-09-10 发布日期:2015-09-10
  • 通讯作者: 阿地力?莫明，硕士，教授，新疆医科大学第一附属医院颌面外科，新疆维吾尔自治区乌鲁木齐市 830054
  • 作者简介:古丽，女，1986年生，新疆克州乌恰县人，柯尔克孜族，2014年新疆医科大学毕业，硕士，医师，主要从事先天性唇腭裂的研究。
  • 基金资助:

    国家自然科学基金(81260163)

Association between IRF6 gene and non-syndromic cleft lip and palate in Xinjiang Uygur population: a next-generation sequencing analysis 

Gu Li1, Bilikezi Yusufu2, Ainiwaer Mijiti1, Adili Moming1   

  1. 1Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang Uygur Autonomous Region, China; 2Department of Oral and Maxillofacial Surgery, the No.1 People’s Hospital of Kashgar, Kashgar 844000, Xinjiang Uygur Autonomous Region, China
  • Online:2015-09-10 Published:2015-09-10
  • Contact: Adili Moming, Master, Professor, Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang Uygur Autonomous Region, China
  • About author:Gu Li, Master, Physician, Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang Uygur Autonomous Region, China
  • Supported by:

    the National Natural Science Foundation of China, No. 81260163

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摘要：

背景：目前缺乏关于新疆维吾尔族非综合征性唇腭裂相关易感基因研究相关遗传资料。

目的：探讨IRF6基因与新疆地区维吾尔人群非综合征性唇腭裂的相关性。

方法：选择久居新疆的维吾尔族非综合征性唇腭裂患者100例和同期上呼吸道感染儿童60例做对照组，用第二代测序技术对IRF6基因编码区、5’UTR区及第一外显子前500 bp进行测序。

结果与结论：将测序结果与基因组数据库进行比较，共发现11个高频SNPs位点：rs861019、rs7552506、rs2235377、rs2235371、rs2013162、rs7545538、rs7545542、rs12403006、rs846808、rs34743335、rs2235373。rs7545538(C > G，P=0.007)，rs7545542(C > T，P=0.044)和rs2235373(G > A，P=0.049)等位基因分布在病例组与对照组间差异有显著性意义(P < 0.05)；rs7545538基因型分布在病例组与对照组间差异有显著性意义(P=0.037)；余位点等位基因与基因型分布在病例组与对照组间差异无显著性意义(P > 0.05)。对以上11个高频SNPs进行单倍型分析，共构成2个单倍体域，第一个单倍体域最常见的单倍型有4种：CCGGT > CCGAT > CACAT > TAGAC，其中最有意义的单倍型为CCGAT(P=0.032)；第二个单倍体域最常见的单倍型有3种：TAC > ATG > TAG，其中最有意义的单倍型为TAC(P=0.009)，TAG(P=0.003)。分析结果发现，IRF6基因与非综合征性唇腭裂的发生可能存在相关性。

 中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

关键词: 组织构建, 组织工程, 非综合征性唇腭裂, 干扰素调节因子6, 单核苷酸多态性, 二代测序, 维吾尔族, 国家自然科学基金

Abstract:

BACKGROUND: There are few genetic data related to nonsyndromic cleft lip and palate in Xinjiang Uygur population.

OBJECTIVE: To investigate the relationship between interferon regulatory factor 6 (IRF6) and non-syndromic cleft lip and palate in Xinjiang Uygur population.

METHODS: A total of 100 Uyghur patients with non-syndromic cleft lip and palate from Xinjiang were included as case group, and meanwhile, 60 children with upper respiratory infection were enrolled as controls. Next-generation sequencing was used to detect coding region, 5’UTR and 500 bp before exon1 of IRF6 gene, and sequencing results were compared with the information on the genome database.

RESULTS AND CONCLUSION: Eleven high-frequency SNPs were found: rs861019, rs7552506, rs2235377, 
rs2235371, rs2013162, rs7545538, rs7545542, rs12403006, rs846808, rs34743335, rs2235373. The frequencies of alleles of loci rs7545538 (C > G, P=0.007), rs7545542 (C > T, P=0.044) and rs2235373 (G > A, P=0.049) were significantly different in the case group and control group; the genotype distribution of rs7545538 showed significant difference between the case group and control group (P=0.037); the genotype distribution and the frequency of alleles of other loci had no significant difference between the case group and control group (P > 0.05). Two blocks were identified in the 11 high-frequency SNPs. There were four common haploid types in Block 1: CCGGT > CCGAT > CACAT > TAGAC, and the most significant single type was CCGAT (P=0.032). There were three common haploid types in Block 2: TAC > ATG > TAG, and the most significant single types were TAC (P=0.009) and TAG (P=0.003). These findings indicate that IRF6 gene polymorphisms are probably associated with the occurrence of non-syndromic cleft lip and palate in Xinjiang Uygur population.

 中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Key words: Cleft Palate, Interferon Regulatory Factors, Polymorphism, Single Nucleotide

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