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Genomics Inform > Volume 5(2); 2007 > Article
Genetic Analysis of TGFA, MTHFR, and IFR6 in Korean Patients Affected by Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P).
Jung Young Park, Han Wook Yoo, Youngho Kim
1School of Life Sciences and Biotechnology, Korea University, Seoul 136-701, Korea.
2Department of Pediatrics, University of Ulsan, College of Medicine, Asan Medical Center, Seoul 138-736, Korea.
3Department of Biochemistry, School of Medicine, Wonkwang University, Iksan, Jeollabuk-Do 570-749, Korea. youngkim@wku.ac.kr
Abstract
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial birth defect that is the result of a mixture of genetic and environmental factors. While studies have identified a number of different candidate genes and loci for the etiology of CL/P, the results have not been consistent among different ethnic groups. To study the genetic association of the candidate genes in Korean patients affected by CL/P, we genotyped 97 nonsyndromic CL/P patients and 100 control individuals using single nucleotide polymorphic markers at the MTHFR, TGFA, and IRF6 genes. We report that the T3827C marker at TGFA showed significant association with nonsyndromic CL/P, but all the other markers tested were not significantly associated with nonsyndromic CL/P in Korean patients.
Keywords: cleft lip and cleft palate; genetic analysis; IRF6; MTHFR; TGFA
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