伊朗东北部人群中[具体基因]单核苷酸多态性与非综合征性口面部裂隙的关联。 （原文中“and”前后内容缺失，以上为补充完整后的翻译示意）
Association between and Single-Nucleotide Polymorphisms and Non-syndromic Orofacial Clefts in the Northeast Population of Iran.
作者信息
Morvaridi Farimani Reza, Azimi-Nezhad Mohsen, KhorramKhorshid Hamid Reza, Ebadifar Asghar, Tohidkhah Saba, Jafarian Zahra, Kamali Koorosh, Nazari Zeinab, Ebrahimzadeh-Vesal Reza
机构信息
Department of Orthodontics, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Non-Communicable Diseases Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran.
出版信息
Avicenna J Med Biotechnol. 2022 Oct-Dec;14(4):310-316.
BACKGROUND
Non-Syndromic Cleft Lip with or without cleft Palate (NSCL/P) is a common developmental disorder of the head and neck with a multifactorial etiology. The current study aimed to evaluate the potential association of (rs10512248) and (rs12681366) polymorphisms with NSCL/P in the Northeast Iranian population.
METHODS
In the present study, blood samples were taken from 122 subjects with NSCL/P and 161 healthy controls. Polymerase Chain Reaction (PCR) followed by Restriction Fragment Length Polymorphism (RFLP) were used to conduct genotyping of single-nucleotide polymorphisms.
RESULTS
Although differences were observed between cases and controls in rs10512248 and rs12681366, our data did not support a significant association of these polymorphisms with NSCL/P in our population.
CONCLUSION
Our findings suggest that polymorphisms of rs10512248 and rs12681366 may not be potential risk factors for NSCL/P in the Northeast Iranian population due to the multifactorial and multiethnicity characteristics of some genes.
背景
非综合征性唇裂伴或不伴腭裂（NSCL/P）是一种常见的头颈部发育障碍，病因多因素。本研究旨在评估（rs10512248）和（rs12681366）多态性与伊朗东北部人群NSCL/P的潜在关联。
方法
在本研究中，采集了122例NSCL/P患者和161例健康对照者的血样。采用聚合酶链反应（PCR）结合限制性片段长度多态性（RFLP）对单核苷酸多态性进行基因分型。
结果
虽然在rs10512248和rs12681366的病例和对照之间观察到差异，但我们的数据不支持这些多态性与我们人群中NSCL/P的显著关联。
结论
我们的研究结果表明，由于某些基因的多因素和多民族特征，rs10512248和rs12681366的多态性可能不是伊朗东北部人群NSCL/P的潜在危险因素。
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