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目的探讨Δ6去饱和酶基因(FADS2)rs174575位点基因多态性对乳汁多不饱和脂肪酸(PUFA)水平的影响。方法采用3天24 h膳食回顾调查乳母膳食PUFA摄入情况;于乳母产后22~25天收取成熟乳20 ml,气相色谱仪检测乳汁8种PUFA水平,试剂盒提取乳汁基因组DNA,并运用Sequenom mass array平台检测FADS2基因rs174575位点基因多态性。结果rs174575位点主等位基因C频率为90.2%,次等位基因G频率为9.8%;主等位基因纯合子CC携带者乳汁a-亚麻酸(ALA)低于G等位基因携带者ALA水平;而主等位基因纯合子CC携带者n-6与n-3系PUFA比值大于G等位基因携带者比值。结论 FADS2 rs174575基因多态性与乳母乳汁ALA水平及n-6/n-3比值水平相关联。
Objective To investigate the effect of rs174575 polymorphism of Δ6 desaturase gene (FADS2) on the level of milk polyunsaturated fatty acids (PUFA). Methods The dietary PUFA intake of lactating maternal diet was investigated by 24-h diet for 3 days. 20 ml of mature milk was collected from 22 to 25 days postpartum and eight PUFAs were detected by gas chromatography. The kit was used to extract genomic DNA from milk, array platform to detect rs174575 polymorphism of FADS2 gene. Results The frequency of major allele C at rs174575 was 90.2% and that of sub-allele G was 9.8%. The a-linolenic acid (ALA) of homozygous CC carriers of primary allele was lower than that of G allele ALA Level, while the ratio of n-6 to n-3 PUFA of major allele homozygous CC carriers was higher than that of G allele carriers. Conclusion The FADS2 rs174575 gene polymorphism is associated with the level of ALA and the ratio of n-6 / n-3 in lactation milk.