中文摘要：

目的研究中国宁夏地区回汉族人群染色体17q22（rs227731）、ABCA4（rs560426）和10q25．3（7078160）位点单核苷酸多态性与非综合征型唇腭裂的相关性。方法研究对象包括非综合征型唇腭裂患儿415例，其中汉族191例，回族224例；患儿父亲205例，母亲240例；其中完整3人核心家系158个。将他们分为单纯唇裂组、单纯腭裂组、唇腭裂组，单纯唇裂组与唇腭裂组合并为唇裂伴或不伴腭裂组；对照组为健康大学生385例，其中汉族281例，回族104例。采用TaqMan基因型鉴定技术检测3个单核苷酸多态位点的基因型，进行病例对照分析、传递不平衡检验、以家系为基础的相关性分析。结果①染色体17q22区段的rs227731位点在汉族单纯唇裂组等位基因频率与对照组比较存在统计学差异（P〈0．05），在唇裂伴或不伴腭裂组中等位基因频率与对照组比较存在统计学差异（P〈0．05）。回汉族唇腭裂组等位基因频率和唇裂伴或不伴腭裂组基因型、等位基因频率比较均存在统计学差异（P=0．04，P=0．04，P=0．01）；@ABCA4基因的rs560426位点在汉族单纯唇裂组基因型与等位基因频率与对照组比较存在统计学差异（P〈0．05），在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〈0．05），回汉族单纯唇裂组基因型、等位基因比较存在统计学差异（P=0．04，P=0．01）；③染色体10q25．3区段的rs7078160位点基因型与等位基因频率与对照组比较及回汉族相互比较均无统计学差异（P〈0．05）。结论在宁夏汉族人群中染色体17q22区段的rs227731位点和ABCA4基因的rs560426位点单核苷酸多态性与非综合征型唇腭裂有统计学关联，染色体10q25．3区段的rs7078160位点与非综合征型唇腭裂无统计学关联。

英文摘要：

Objective To explore if genetic variation in chromosome 17q22 （rs22731）, ABCA4 （rs560426） and 10q25.3 （rs7078160）genes contributes to non-syndromic cleft lip with or without cleft palate （NSCL/P） in Ningxia Huiand Han population. Methods The study consisted of 415 NSCL/P patients （Han = 191, Hui = 224）and their parents （303 fathers and 311 mothers, including 158 complete families）. They were divided into 3 groups： the cleft lip only （CLO）, the cleft palate only（CPO） and both the cleft lip and palate（CLP） groups, and we merged the CLO and CLP groups into the cleft lip with or without palate （CL/P） group. In addition, 385 healthy college students （Han = 261, Hui = 104）consisted of the control group. The single nucleotide polymorphisms （SNPs） were genotyped by TaqMan SNPs genotyping and the data were analyzed by case-control analysis, transmission disequilibrium test and family based association test. Results ① The distribution of alleles at rs227731 on chromosome 17q22 was significantly different between CLO and control groups in the Hans （ P 〈 0.05 ）, and significant difference was found between CL/P and con- trol groups in the Hans （ P 〈 0.05 ）. There were significant differences in the genotypic and allelic frequencies of CLP and CL/P groups between the two ethnics. ② The distributions of both genotypes and alleles at rs560426 in ABCA4 gene were also significantly different between CLP and control groups in the Hans （ P 〈 0.05 ）, and significant differ- ence was found between CL/P and control groups in the Hans （ P 〈 0.05 ）. There were significant differences in the genotypic and allelic frequencies of CLO groups between the two ethnics. ③ No differences were found in genotypic and allelic frequencies of rs7078160 on chromosome 10q25 between the patients and their parents and the controls, and between the two ethnics. Conelusion rs227731 and rs560426 SNPs are associated with NSCL/P in Ningxia Han popu- lation, and rs7078160 SNPs are