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Single Nucleotide Polymorphisms (SNPs) of COL1A1 and COL11A1 in Class II Skeletal Malocclusion of Ethnic Javanese Patient

机译:Col1A1和Col11a1的单核苷酸多态性(SNP)在族爪哇患者的II类骨骼杂种中

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Background: The prevalence of malocclusion cases in the orthodontic specialist clinic in Airlangga University’s Dental Hospital in Surabaya, Indonesia, in 2014– 2016 is fairly high, as 55.34% of the occurrences were identified as class II skeletal malocclusion. This type of skeletal malocclusion, which is usually recognized in adults, occurs as a result of variation during growth and development. Lately, there have been many reports on gene polymorphisms of COL1A1 and COL11A1, which are assumed to be associated with class II skeletal malocclusion in Caucasians. Purpose: This study aims to analyze the relationship between single nucleotide polymorphisms (SNPs) of COL1A1 and COL11A1 with class II skeletal malocclusion in Javanese ethnic group patients with mandibular micrognathism. Materials and Methods: The diagnosis of class II skeletal malocclusion was established using the lateral cephalometric radiographs (ANB angle ≥ 4°) (n=50). DNA was extracted from the patient’s peripheral blood. After that, PCR, electrophoresis, and DNA sequencing were conducted on the extracted DNA based on COL1A1 and COL11A1 primers. Results: The SNPs in COL1A1 are c.20980G/A in 27 patients and c.20980GA in 8 patients, whereas SNPs in COL11A1 are both c.134373C/A and c.134555C/T in 8 patients and both c.[134373AC] and c.134582GA in 10 patients. All samples show the deletion (c.[134227delA]) in COL11A1. Conclusion: SNPs in COL1A1 and COL11A1 have been found in class II skeletal malocclusion of Javanese ethnic group patients. Seventy percent of SNPs in COL1A1 occur in rs.2249492, whereas 36% of newly discovered SNPs appear in COL11A1. All samples also have deletion in COL11A1.
机译:背景:2014年2014年,印度尼西亚泗水驻地牙科医院牙科医院牙科医院牙科诊所的患病率相当高,占55.34%的事件被确定为II类骨架杂皮病。这种类型的骨骼杂种,通常在成人中识别,在生长和发育过程中的变异导致。最近,有许多关于COL1A1和COL11A1的基因多态性的报告,假设与高加索人中的II类骨架咬合相关。目的:本研究旨在分析COL1A1和COL11A1的单核苷酸多态性(SNP)与爪哇族族族患者的II型骨骼咬合之间的关系。材料和方法:使用横向头部测压射线照片(ANB角≥4°)建立II类骨骼杂种的诊断(n = 50)。从患者的外周血中提取DNA。之后,基于COL1A1和COL11A1引物在提取的DNA上进行PCR,电泳和DNA测序。结果:COL1A1中的SNP是27名患者中的C.20980G / A和8名患者中的C.20980G> A,而COL11A1中的SNPS在8名患者中均为C.134373C / A和C.34555C / T。[ 134373A> C]和C.134582G> A中的10例。所有样品均显示COL11A1中的删除(C. [134227dela])。结论:Col1A1和COL11A1中的SNP已经发现在爪哇族裔血统患者的II级骨骼杂志中。 Col1A1中的百分之百分之一体的SNP发生在2249492卢比中,而新发现的36%的SNP出现在Col11a1中。所有样品也在COL11A1中删除。

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