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目的:探讨中国宁夏地区回汉族人群中v-maf肌腱膜纤维肉瘤癌基因同源物B(MAFB)基因的rs6072081、rs6065259、rs17820943、rs11696257位点单核苷酸多态性与非综合征型唇腭裂(NSCL/P)的相关性。方法:收集宁夏地区NSCL/P患儿病例组512例(汉族254例,回族258例),完整3人核心家系(患者及其父母)174个,单方父母家系(患者及其单方父母)142个。新生儿对照组505例(汉族243例,回族262例)。采用Taq Man基因型鉴定方法进行基因分型,并进行病例对照分析、传递不平衡检验(TDT)和以家系为基础的相关性分析(FBAT)。结果:MAFB基因4个位点在病例组中基因型和等位基因频率与对照组比较有统计学意义(P<0.05);这4个位点在腭裂组中均无统计学意义(P>0.05)。结论:宁夏人群中MAFB基因的4个位点单核苷酸多态性与非综合征型唇腭裂有关联。
OBJECTIVE: To investigate the polymorphisms of rs6072081, rs6065259, rs17820943 and rs11696257 of v-maf fibronal sarcoma oncogene homolog B (MAFB) gene in Chinese Han population of Ningxia Hui Autonomous Region and non-syndromic lip Cleft palate (NSCL / P) correlation. Methods: A total of 512 cases of NSCL / P children from Ningxia were enrolled in this study. Among them, there were 254 cases of Han and 258 cases of Hui nationality, 174 cases of complete 3-core nuclear family (patients and their parents), 142 unilateral parents (patients and their unilateral parents) . 505 cases of neonatal control group (Han 243 cases, Hui 262 cases). Genotyping was performed using Taq Man genotyping and case-control analysis, transmission disequilibrium test (TDT) and family-based association analysis (FBAT). Results: The frequencies of genotypes and alleles in four loci of MAFB gene in the case group were significantly higher than those in the control group (P <0.05). There was no significant difference in the four loci among the four groups (P> 0.05). CONCLUSIONS: Four loci single nucleotide polymorphisms of MAFB gene in Ningxia population are associated with nonsyndromic cleft lip and palate.