Screening for ARHGAP29 gene variants in Turkish paediatric patients with non-syndromic cleft lip with or without cleft palate

被引：1
|
作者：
Ozdiler, Erhan [1 ]
Altug, Ayse Tuba [1 ]
Oner, Deniz Aslar [2 ]
Sancak, Ozlem [1 ]
Ozdiler, Orhan [1 ]
Tastan, Hakki [2 ]
机构：
[1] Ankara Univ, Sch Dent, Dept Orthodont, Ankara, Turkey
[2] Gazi Univ, Dept Biol, Fac Sci, Ankara, Turkey
来源：
META GENE | 2019年 / 20卷
关键词：
GENOME-WIDE ASSOCIATION; MATERNAL FOLATE INTAKE; OROFACIAL CLEFTS; RISK; POLYMORPHISMS; ETIOLOGY; MUTATION; MTHFR; LOCI;
D O I：
10.1016/j.mgene.2019.100566
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Objective: In this study, we aimed to screen for Rho GTPase-activating protein 29 gene (ARHGAP29) variants in Turkish paediatric patients with non-syndromic cleft lip with or without cleft palate (nsCL/P). Methods: Our study comprised 80 nsCL/P patients and 125 unrelated Turkish individuals. Molecular analysis of the ARHGAP29 variants was carried out using polymerase chain reaction amplification and direct sequencing. Results: In this study, rs141866812, rs143877998, rs147752270, rs141653334, rs149136237, rs374087471, rs144585524 and rs201618253 single nucleotide polymorphisms in exons 2, 21 and 23 of ARHGAP29 were screened in patients with nsCL/P and in the control group. Mutations in the ARHGAP29 gene, which were previously identified in patients with nsCL/P of different ethnicities, were not observed in the Turkish patients. Conclusion: This is the first report investigating ARHGAP29 variants in Turkish patients with nsCL/P.
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页数：3
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