中文摘要：

目的：研究染色体8q24区段的rs987525位点及MAFB基因的rs13041247位点单核苷酸多态性（single nucleotide polymorphism,SNP）与非综合征型唇腭裂（nonsyndromic cleft lip with or without cleft palate,NSCL/P）的相关性。方法：收集宁夏地区病例组非综合征型唇腭裂患儿369例,患儿父亲303例,母亲311例,完整3人核心家系158个。对照组收集在校正常大学生433例。采用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）的方法检测这2个SNPs的基因型,运用卡方检验,传递不平衡检验（transmission disequilibrium test,TDT）等统计学方法分析评价以上SNPs的基因型频率和等位基因频率在患儿,患儿父母及对照组人群中的分布,评价其与NSCL/P的关联。结果：病例对照研究发现：MAFB基因的rs13041247位点在本研究人群的单纯唇裂组及唇裂伴或不伴腭裂组中基因型与等位基因频率与对照组比较存在统计学差异（P=0.02,P=0.04,P=0.01,P=0.04）,而在单纯腭裂组中不存在统计学差异（P=0.25,P=0.51）。染色体8q24区域的rs987525位点基因型与等位基因频率与对照组比较差异无统计学意义（P=0.07,P=0.20,P=0.58,P=0.33,P=0.35,P=0.59）。TDT发现rs13041247位点C等位基因在单纯唇裂组中存在过传递（P=0.03）,rs987525位点A等位基因在唇裂,腭裂及唇裂伴或不伴腭裂组中存在过传递（P=0.00,P=0.04,P=0.00）。结论：MAFB的rs13041247位点单核苷酸多态性与非综合征型唇腭裂有关。

英文摘要：

Objective ：To explore if genetic variation in chromosome 8q24（rs987525） and MAFB （rs13041247） gene contributes to nonsyndromic cleft lip with or without cleft palate （NSCL/P）. Methods：Study group consisted of 369 NSCL/P patients,their parents （303 fathers, 311 mothers and 158 complete core families） and 433 controls. These 2 single nucleotide polymorphisms （SNPs） were genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Genotypic and allelic distributions and comparisons of rs987525 and rs13041247 in patients,their parents and controls were analyzed byx2 test and transmission disequilibrium test（TDT） and their association with NSCL/P was evaluated. Results ：Case-control analysis found that there were significant differences in the frequency distributions of both genotypes and alleles in cleft lip, cleft lip with or without cleft palate groups of rs13041247 in MAFB gene（P=0.02,P=0.04,P=0.01 ,P=0.04）,however,there was no statistical difference in the frequency distribu- tions of both genotypes and alleles in cleft lip group（P=0.25,P=0.51）. There was neither allelic nor genotypic association between rs987525 in chromosome 8q24 and NSCL/P（P=-0.07 ,P=0.20,P=-0.58 ,P=-0.33 ,P=-0.35 ,P=0.59）. TDT tests demonstrated that rs13041247 C allele in the locus of cleft lip patients had transmission（P=0.03）, rs987525 A allele in cleft lip, cleft palate and cleft lip with or without cleft palate patients had transmission（P=0.00,P=0.04,P=0.00）. Conclusions：MAFB gene rs13041247 SNP is associatedwith NSCL/P in Ningxia population.