CAJ | 학술논문

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 TaqMan 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。
목적：탐토중국저하지구회한족인군중 v-maf 기건막섬유육류암기인동원물 B（MAFB）기인적 rs6072081、rs6065259、rs17820943、rs11696257위점단핵감산다태성여비종합정형진악렬（NSCL／P）적상관성。방법：수집저하지구 NSCL／P 환인병례조512례（한족254례，회족258례），완정3인핵심가계（환자급기부모）174개，단방부모가계（환자급기단방부모）142개。신생인대조조505례（한족243례，회족262례）。채용 TaqMan 기인형감정방법진행기인분형，병진행병례대조분석、전체불평형검험（TDT）화이가계위기출적상관성분석（FBAT）。결과：MAFB 기인 4개위점재병례조중기인형화등위기인빈솔여대조조비교유통계학의의（P ＜0．05）；저 4개위점재악렬조중균무통계학의의（P ＞0．05）。결론：저하인군중 MAFB 기인적 4개위점단핵감산다태성여비종합정형진악렬유관련。
Objective:To study the association between non-syndrome cleft lip and palate (NSCL/P)and MAFB (rs6072081, rs6065259,rs17820943,rs11696257)gene polymorphism in NingXia Hui and Han population.Methods:512 cases of NSCL/P,258 case of Hui nationality and 254 of Han,174 cases of complete 3 core family members(patients and their parents),142 cases of single parents families(patients and their single parents),were collected in patient group.505 cases of healthy newborns were collected in control group.The MAFB gene SNPs were determined with TaqMan SNPs genotyping methods and the data were analyzed by case-con-trol analysis,transmission disequilibrium test(TDT)and family based association test(FBAT).Results:Case-control analysis found that,there was a statistical significance of the genotypes and allele frequency between patients and the controls in MAFB of the 4 locus (P <0.05);but all of the 4 locus showed no difference in patients with cleft palate(P >0.05).Conclusion:The 4 locus single nucle-otide polymorphism was associated with NSCL/P in Ningxia population.