视黄酸受体α基因多态性与非综合征性唇腭裂遗传易感性的关联研究

目的探讨视黄酸受体α（RARA）基因D17S579微卫星位点等位基因多态性与中国湖南汉族人群非综合征性唇腭裂（NSCL／P）遗传易感性之间的关系。方法采用PCR和聚丙烯酰胺变性凝胶技术,对132例健康者和140例NSCL／P患者进行研究,分析RARA基因D17S579微卫星位点多态性。结果两组共检出10种等位基因,正常对照组与病例组等位基因频率比较,差异有统计学意义（χ^2=17．163,df=9,P=0．046）;病例组A6（8．93％）、A9（13．21％）等位基因频率明显高于健康对照组A6（4．17％）、A9（5．68％,均P〈0．05）;有家族史的患者等位基因频率与无家族史患者等位基因频率差异无统计学意义（χ^2=2．710,P=0．978）。结论RARA基因D17S579微卫星多态性与中国湖南地区NSCL／P患者存在遗传易感性,等位基因A6、A9可能为NSCL／P发生的危险因子;RARA基因多态性与NSCL／P家族史无相关性。

Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility

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.