STUDY OF THE CLPTM1 GENE IN SOUTH AMERICAN NON-SYNDROMIC CLEFT LIP PATIENTS WITH OR WITHOUT PALATE
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Mehmet A. Sözen 1 2 * , Marie M. Tolarova 3, Richard A. Spritz 2
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1 Afyon Kocatepe University, Medical Faculty, Department of Medical Biology, Afyonkarahisar, Turkey2 University of Colorado Denver, Human Medical Genetics Program, Aurora, USA3 University of the Pacific, Department of Orthodontics, San Francisco, USA* Corresponding Author

Abstract

Aim: The CLPTM1 gene is considered as a candidate gene based on the fact that it is localized in the human chromosomal region 19q13 which maps in the candidate region OFC3. This study aims to test the involvement of this candidate gene, CLPTM1, in non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) and to analyze particularly a CLPTM1 variant, A88A if there is an allelic association with non-syndromic cleft lip and palate. Methods: A total of 171 non-syndromic cleft lip patients with or without palate and 181 healthy controls from Venezuela and a total of 92 non-syndromic CL/P patients and 76 healthy controls from Argentina were screened for CLPTM1 Exon 3 variation, A88A using Single Stranded Conformation Polymorphism technique. Results: We found no significant difference for the A88A mutation of CLPTM1 gene between nsCL/P patients and controls neither in Venezuela nor in Argentina, although the first cohort from Venezuela showed a significant difference in terms of CLPTM1 88A mutant allele frequency in particular. Conclusion: The CLPTM1 variant, A88A, was not found to be associated with the disease in the two populations studied. These data suggest that CLPTM1 gene do not seem to participate in the development of nsCL/P in the South American populations studied. These results also suggest that larger s

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Original Article

EUR J GEN MED, Volume 5, Issue 3, July 2008, 134-139

https://doi.org/10.29333/ejgm/82594

Publication date: 15 Jul 2008

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