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Updated: Jul 15, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft
Guo-Zheng Fan1, Yun-Liang Li, Ping-An Wu
1Department of Oral and Maxillofacial Surgery, Second Affiliated Hospital of Central South University, Changsha 410011, China.
Objective:
To investigate the relationship between D17S579 microsatellite marker allelic polymorphisms in retinoic acid receptor-alpha (RARA) gene and the genetic susceptibility to nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Hunan Hans.
Methods:
PCR and denaturing polyacrylamide gel electrophoresis (PAGE) were used to detect the polymorphism of RARA gene marked by D17S579 among 140 patients with NSCL/P, 82 males and 58 females, aged 3 months-14 years, and 132 healthy persons, 68 males and 64 females, aged 6 months-14 years, who underwent physical examination.
Results:
The A6 allele frequency of the NSCL/P patients was 8.93%, significantly higher than that of the healthy persons (4.17%, P = 0.026). The A9 allele frequency the NSCL/P patients was 13.21%, significantly higher than that of the healthy persons (5.68%, P = 0.003). There were not significant differences in the frequencies of different alleles between the patients with family history and the patients without family history (chi2 = 2.710, P = 0.978).
Conclusion:
The A6 and A9 alleles in D17S579 microsatellite marker of RARA gene may be correlated with the development of NSCL/P in Hunan Hans. There is no association between the family history and RARA polymorphism in the NSCL/P patients.
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