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

机译:云母基因多态性无关Nonsyndromic唇裂有或没有间隙在日本人口味?

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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-Aб 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:Nonsyndromic唇裂有或没有间隙口味(NSCLP)是最常见的一种缺陷。在很大程度上仍是个未知数。遗传和环境因素这种畸形。我主要组织相容性复合体类chain-related基因(云母),位于约40kb的着丝粒HLA-B基因。我们分析了云母基因之间的联系多态性和NSCLP在日本病人。方法:云母(GCT) n多态性的基因在94年被调查患者NSCLP和使用聚合酶链180名正常对照反应放大和变性聚丙烯酰胺凝胶电泳。结果表明,不存在差异在微卫星等位基因频率NSCLP之间病人和控制。MICA-A6微卫星等位基因频率(p= 0.045)等位基因是男性患者的增加,与控制。(p = 0.359)等位基因也增加了女性NSCLP病人。微卫星等位基因的频率男性NSCLP MICA-Aб等位基因增加病人。虽然MICA-A5等位基因增加了女性NSCLP病人,没有增加统计学意义。云母基因可能的候选人之一NSCLP的基因。

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