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MICA Gene Polymorphism Not Associated with Nonsyndromic Cleft Lip with or without Cleft Palate in the Japanese Population?

机译:在日本人群中,MICA基因多态性与非综合征性唇Lip裂或伴有或不伴Pal裂相关吗?

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摘要

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common birth defects. Despite its frequency, the etiology remains largely unknown. Most likely, both genetic and environmental factors contribute to this malformation. A polymorphic gene family, the major histocompatibility complex class I chain-related gene A (MICA), is located about 40 kb centromeric to the HLA-B gene. In this study, we analyzed the association between MICA gene polymorphisms and NSCLP in Japanese patients. Methods: The (GCT)n polymorphism of the MICA gene was investigated in 94 patients with NSCLP and 180 normal controls using polymerase chain reaction amplification and denaturing polyacrylamide gel electrophoresis. Results: Our results demonstrate that there are no differences in microsatellite allele frequency between NSCLP patients and controls. However, the microsatellite allele frequency of the MICA-A6 (p = 0.045) allele was increased in male patients, as compared with controls. Further, the MICA-A5 (p = 0.359) allele was also increased in female NSCLP patients. Conclusion: These results suggest that the microsatellite allele frequencies of the MICA-A6 allele increased in male NSCLP patients. Although the MICA-A5 allele increased in female NSCLP patients, the increase was not statistically significant. These results suggest that the MICA gene could be one of the candidate genes for NSCLP.
机译:非综合征性唇裂伴或不伴有c裂(NSCLP)是最常见的先天性缺陷之一。尽管其发病率很高,但病因学仍不为人所知。遗传和环境因素最有可能导致这种畸形。多态性基因家族,主要的组织相容性复合物I类链相关基因A(MICA),位于HLA-B基因的约40 kb着丝粒。在这项研究中,我们分析了日本患者MICA基因多态性与NSCLP之间的关联。方法:采用聚合酶链反应扩增和变性聚丙烯酰胺凝胶电泳技术,对94例NSCLP和180例正常对照患者MICA基因的(GCT)n多态性进行了研究。结果:我们的结果表明,NSCLP患者和对照组之间的微卫星等位基因频率没有差异。然而,与对照相比,男性患者中MICA-A6(p = 0.045)等位基因的微卫星等位基因频率增加。此外,女性NSCLP患者中的MICA-A5(p = 0.359)等位基因也增加。结论:这些结果表明,男性NSCLP患者中MICA-A6等位基因的微卫星等位基因频率增加。尽管女性NSCLP患者的MICA-A5等位基因增加,但增加没有统计学意义。这些结果表明,MICA基因可能是NSCLP的候选基因之一。

著录项

  • 来源
    《Genetic Testing》 |2009年第4期|445-448|共4页
  • 作者单位

    Departments of Oral and Maxillofacial Surgery and Departments of Legal Medicine, Nara Medical University, Nara, Japan Department of Oral and Maxillofacial Surgery Nara Medical University 840 Shijo-cho, Kashihara Nara 634-8521 Japan;

    Departments of Oral and Maxillofacial Surgery and Nara Medical University, Nara, Japan;

    Departments of Oral and Maxillofacial Surgery and Nara Medical University, Nara, Japan;

    Departments of Oral and Maxillofacial Surgery and Nara Medical University, Nara, Japan;

    Departments of Oral and Maxillofacial Surgery and Nara Medical University, Nara, Japan Departments of Legal Medicine, Nara Medical University, Nara, Japan;

    Departments of Oral and Maxillofacial Surgery and Nara Medical University, Nara, Japan;

    Departments of Legal Medicine, Nara Medical University, Nara, Japan;

    Departments of Legal Medicine, Nara Medical University, Nara, Japan;

    Departments of Oral and Maxillofacial Surgery and Nara Medical University, Nara, Japan;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

  • 入库时间 2022-08-17 13:21:29

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