乌蒙凤鸡FGF23基因多态位点筛查与生物信息学分析

doi:10.16431/j.cnki.1671-7236.2020.07.016

摘要/Abstract

摘要： 研究旨在挖掘成纤维生长因子23（fibroblast growth factors，FGF23）基因的单核苷酸多态（SNP）位点，为进一步研究该基因遗传变异奠定基础。试验以乌蒙凤鸡为研究对象，采用PCR产物直接测序法对FGF23基因进行SNP位点筛查，并进行遗传特性、连锁不平衡、单倍型、双倍型和生物信息学分析。结果显示，仅在乌蒙凤鸡FGF23基因启动子区域检测到3个中度多态的SNPs位点，分别为：g.73424341 C>A、g.73424417 A>G和g.73424701 T>A，每个SNP位点均产生3种基因型。χ²检验结果发现，仅g.73424417 A>G突变位点的基因型分布极显著偏离Hardy-Weinberg平衡（P<0.01）。连锁不平衡、单倍型和双倍型分析结果显示，3个SNPs位点中仅g.73424417 A>G和g.73424701 T>A位点间存在强连锁不平衡，共发现4种单倍型和8种双倍型，双倍型H1H2频率最高，其次为H3H4，频率最低的为H2H2。生物信息学分析发现，FGF23基因的核心启动子区域很可能在-400~-300 bp处，本研究发现的3个SNPs位点不在核心启动子区；突变前g.73423055~g.73425055区域总转录因子数为293个，突变后为300个。g.73424341 C>A位点突变前后转录因子不变，均为ICSBP；g.73424417 A>G位点突变使转录因子由GR转变为C/EBPalp；g.73424701 T>A位点突变前后均没有转录因子。推测SNP位点对调控启动子功能元件可能存在重要影响。

关键词: 乌蒙凤鸡; FGF23基因; 多态位点; 生物信息学

Abstract: In order to find out the single nucleotide polymorphism (SNP) of fibroblast growth factor 23 (FGF23) gene and lay a foundation for further research on the genetic variation of FGF23 gene,SNP of FGF23 gene was screened by direct sequencing of PCR products in Wumeng Crested chickens,and the genetic characteristics,linkage disequilibrium,haplotype,diplotype and bioinformatics were analyzed.The results showed that 3 moderately polymorphic SNPs were detected in the promoter region of FGF23 gene in Wumeng Crested chickens,which were g.73424341 C>A,g.73424417 A>G and g.73424701 T>A,respectively,each SNP produced 3 genotypes.χ² test results found that only g.73424417 A>G extremely significantly deviated from the Hardy-Weinberg equilibrium (P<0.01).The results of linkage disequilibrium,haplotype and diplotype analysis showed that there was only strong linkage disequilibrium between g.73424417 A>G and g.73424701 T>A among 3 SNPs,and a total of 4 haplotypes and 8 diplotypes were found,diplotype H1H2 had the highest frequency,followed by H3H4,and the lowest frequency was H2H2.Bioinformatics analysis results found that the core promoter region of FGF23 gene was likely to be in the range of -400 to -300 bp,3 SNPs were not in the core promoter region in this study.The total number of transcription factors were 293 and 300 of g.73423055-g.73425055 region before and after mutation,respectively.The transcription factor was unchanged (all were ICSBP) of g.73424341 C>A before and after mutation.g.73424417 A>G caused the transcription factor to change from GR to C/EBPalp.There was no transcription factor of g.73424701 T>A before and after mutation.It was speculated that SNPs might have an important influence on the regulatory elements of the promoter.

Key words: Wumeng Crested chickens; FGF23 gene; polymorphic loci; bioinformatics

中图分类号:

S813.3

田琴, 周怡, 张明华, 周碧君, 程振涛, 王开功, 文明. 乌蒙凤鸡FGF23基因多态位点筛查与生物信息学分析[J]. 中国畜牧兽医, 2020, 47(7): 2113-2121.

TIAN Qin, ZHOU Yi, ZHANG Minghua, ZHOU Bijun, CHENG Zhentao, WANG Kaigong, WEN Ming. Polymorphism Screening and Bioinformatics Analysis of FGF23 Gene in Wumeng Crested Chickens[J]. China Animal Husbandry and Veterinary Medicine, 2020, 47(7): 2113-2121.

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