候选基因SNP位点与非综合征性唇腭裂的相关性

摘要

目的：探讨亲代12个候选基因SNP位点与子代非综合征性唇腭裂( NSCLP)的关系,为开展NSCLP的基因诊断和针对性的防治提供基础资料。方法选取41例NSCLP患儿母亲和109例非患儿母亲分别作为病例组、对照组,提取其血液中DNA,采用改良多重高温连接酶检测法(iMLDR)对CENPJ、c14orf49和YOD1等12个基因的SNP位点进行基因分型,计算各基因型在病例组、对照组中的频率分布,并采用χ2检验分析12个SNP位点基因型与NSCLP的遗传关系。结果 C14orf49、EIF2B3、HEATR8、KIF20B、PARVA、PKP1、RECQL5、REG3A、SEC16A、TEX11基因的10个SNP位点的基因型频率分布在病例组、对照组间的差异均无统计学意义(P值均>0．05)。 CENPJ基因rs35498994位点的基因型C在病例组、对照组中分布频率分别为46%、33%；YOD1基因chr1_207224322位点的基因型GT和T在病例组分布频率分别为7%、4%,在对照组中分布频率均为0%,以上差异均有统计学意义( P值均<0．05)。结论母亲携带 CENPJ基因( rs35498994)等位基因 C,或 YOD1(chr1_207224322)突变基因型GT和T会增加子代患NSCLP的风险。%Objective To investigate genetic corelation between parental SNPs of 12 candidate genes and progeny's nonsyndromic cleft of the lip and palate ( NSCLP); to provide basic information for implementing gene diagnosis and making targeted measures for NSCLP prevention and treatment. Methods A total of 41 mothers of NSCLP patients and 109 mothers normal subjects were recruited as patient group and control group, respectively;whose blood DNA was extracted and subjected to genotyping of SNPs of 12 candidate genes such as CENPJ,c14orf49 and YOD1 by improved multiple ligase detection reaction (IMLDR), the genotypic and allelic frequen-cies of 12 SNPs in patient group and control group were calculated and compared byχ2 test for genetic correlation analysis with NSCLP. Results For 10 loci of C14orf49,EIF2B3,HEATR8,KIF20B,PARVA,PKP1,RECQL5,REG3A,SEC16A and TEX11, no significant difference of genotypic and allelic frequencies was observed between patients group and control group(all P>0. 05). The frequency of C allele of of CENPJ gene (locus rs35498994) was 46% and 33% in patient group and control group ,respectively, with statistical difference(P<0. 05) ;the grequency of GT and T alleles of YOD1 gene (locus Chr_207224322) was 7% and 4%, respectively , which was higer than those of control group (both frequencies were 0%) ,with statistical difference(P<0. 05). Conclusions Moth-ers with the allele C of CENPJ (rs35498994) or allele GT and T of YOD1 (chrl-207224322) have higher risk to deliver NSCLP ba-bies.