Association between PTCH1 and RAD54B Single-Nucleotide Polymorphisms and Non-syndromic Orofacial Clefts in the Northeast Population of Iran

Q3 Biochemistry, Genetics and Molecular Biology

Avicenna journal of medical biotechnology Pub Date : 2022-09-03 DOI:10.18502/ajmb.v14i4.10486

Reza Morvaridi Farimani, Mohsen Azimi-nezhad, H. Khorramkhorshid, A. Ebadifar, Saba Tohidkhah, Z. Jafarian, K. Kamali, Z. Nazari, R. Ebrahimzadeh-Vesal

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引用次数: 0

Abstract

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 PTCH1 (rs10512248) and RAD54B (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.

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伊朗东北部人群PTCH1和RAD54B单核苷酸多态性与非综合征性口面裂的关系

背景：伴有或不伴有腭裂的非综合征性唇裂（NSCL/P）是一种常见的头颈部发育障碍，其病因多种多样。本研究旨在评估PTCH1（rs10512248）和RAD54B（rs12681366）多态性与伊朗东北部人群NSCL/P的潜在相关性。方法：本研究抽取122例NSCL/P患者和161例健康对照者的血液样本。应用聚合酶链式反应（PCR）和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：尽管rs10512248和rs12681366在病例和对照组之间存在差异，但我们的数据并不支持这些多态性与我们人群中的NSCL/P之间存在显著关联。结论：我们的研究结果表明，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，因为某些基因具有多因素和多民族特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Avicenna journal of medical biotechnology Biochemistry, Genetics and Molecular Biology-Biotechnology

CiteScore

2.90

自引率

0.00%

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