本文選題：非綜合征性唇腭裂 + MAFB基因��； 參考：《山東醫(yī)藥》2017年35期

【摘要】：目的探討MAFB基因rs13041247位點(diǎn)單核苷酸多態(tài)性與廣東人群非綜合征性唇腭裂(NSCL/P)發(fā)病的相關(guān)性。方法收集162例廣東地區(qū)NSCL/P患者為病例組,178例廣東地區(qū)健康對(duì)照者為對(duì)照組,用Taq Man探針和實(shí)時(shí)熒光定量PCR法檢測(cè)兩組受檢者M(jìn)AFB基因rs13041247位點(diǎn)單核苷酸多態(tài)性,并比較兩組等位基因和基因型分布。結(jié)果病例組和對(duì)照組的基因型、等位基因頻率分布均符合Hardy-Weinberg平衡。病例組等位基因T頻數(shù)169(52.16%)、等位基因C頻數(shù)155(47.84%),對(duì)照組分別為227(63.76%)、129(36.24%)。兩組等位基因頻率比較,P0.05。病例組基因型TT者50例(30.86%)、TC者69例(42.59%)、CC者43例(26.54%),對(duì)照組分別為71例(39.89%)、85例(47.75%)、22例(12.36%),兩組基因型分布相比P0.05。結(jié)論 MAFB基因rs13041247位點(diǎn)單核苷酸多態(tài)性與廣東地區(qū)NSCL/P發(fā)病相關(guān)。
[Abstract]:Objective to investigate the association of single nucleotide polymorphisms (SNP) at rs13041247 locus of MAFB gene with non-syndromic cleft lip and palate (NSCL / P) in Guangdong population. Methods single nucleotide polymorphisms of rs13041247 locus of MAFB gene were detected by Taq Man probe and real-time fluorescence quantitative PCR in 162 NSCL/P patients in Guangdong area as case group and 178 healthy controls in Guangdong area as control group. The distribution of alleles and genotypes were compared between the two groups. Results the distribution of genotype and allele frequency in the case group and the control group were in accordance with the Hardy-Weinberg equilibrium. The T frequency of alleles in the case group was 169 / 52.160.The allele C frequency was 155 / 47.84g / L, respectively, and that in the control group was 227.63.76 / 129C / 36.24g / L, respectively. Comparison of allelic frequencies between the two groups (P 0.05). In the case group, TT was found in 50 cases and TC in 69 cases (42.59%) and CC in 43 cases (26.54%), while in the control group there were 71 cases (39.89%) and 85 cases (47.7575%), 22 cases (P 0.05). The genotype distribution of the two groups was higher than that of the control group (P 0.05). Conclusion the single nucleotide polymorphism of rs13041247 locus of MAFB gene is associated with the onset of NSCL/P in Guangdong.
【作者單位】： 廣東省婦幼保健院;
【基金】：廣東省醫(yī)學(xué)科研基金項(xiàng)目(B2014021)
【分類號(hào)】：R782.2

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本文編號(hào)：1868005