【摘要】：目的:研究RTN4基因rs2920891A/C和rs17046647A/G位點多態(tài)性在廣西人群中的分布特征,比較不同人群的分布差異。方法:本實驗采用多重單堿基延伸PCR(SNa Pshot)和DNA測序方法,對323例廣西健康體檢者RTN4基因的rs2920891A/C和rs17046647A/G位點基因型進行檢測,并與國際人類基因組單體型圖計劃(Hap Map)公布的不同人群(北京、日本、歐洲及非洲人群)RTN4基因多態(tài)性數據進行比較。結果:在廣西人群中,RTN4基因rs2920891A/C位點存在AA、AC、CC基因型及A、C等位基因,其等位基因頻率在男女間的分布差異有統(tǒng)計學意義(P0.05),基因型及等位基因頻率與日本、歐洲及非洲人群比較差異均有統(tǒng)計學意義(P0.05);rs17046647A/G位點存在AA、AG、GG基因型和A、G等位基因,基因型及等位基因頻率在男女間比較差異無統(tǒng)計學意義(P0.05),而與日本、歐洲及非洲人群比較差異均有統(tǒng)計學意義(P0.01)。結論:中國廣西人群中RTN4基因的rs2920891A/C和rs17046647A/G位點多態(tài)性與其他種族間存在差異性。
[Abstract]:Objective: to study the distribution of rs2920891A/C and rs17046647A/G loci polymorphism of RTN4 gene in Guangxi population and compare the distribution of different populations. Methods: the genotypes of rs2920891A/C and rs17046647A/G loci of RTN4 gene in 323 healthy controls in Guangxi were detected by multiplex single base extension PCR (SNa Pshot) and DNA sequencing. The data of RTN4 gene polymorphisms in different populations (Beijing, Japan, Europe and Africa) published by the International Human Genome haplotype Project (Hap Map) were compared. Results: in Guangxi population, the rs2920891A/C locus of RTN4 gene had AA,AC,CC genotype and AA,AC,CC C allele, and the frequency of AA,AC,CC allele was significantly different between male and female (P0.05). The frequency of genotype and allele were significantly different from those in Japan, Europe and Africa (P0.05). There were AA,AG,GG genotypes and Agno G alleles in rs17046647A/G loci. There was no significant difference in genotype and allele frequencies between men and women (P0.05), but there was no significant difference between Japan and Japan. There were significant differences between European and African populations (P0.01). Conclusion: the polymorphism of rs2920891A/C and rs17046647A/G loci of RTN4 gene is different from that of other ethnic groups in Guangxi, China.
【作者單位】： 右江民族醫(yī)學院附屬醫(yī)院生殖遺傳室;右江民族醫(yī)學院;右江民族醫(yī)學院附屬醫(yī)院檢驗科;
【基金】：國家自然科學基金資助項目(No.81560461)
【分類號】：R394

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