贵州地区非阻塞性无精症与SIRPA-SIRPG基因rs6080550多态性的相关性
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摘要
目的:研究贵州地区非阻塞性无精症患者与正常男性健康对照人群SIRPA-SIRPG基因单核苷酸多态性(SNP)位点rs6080550基因分型,探讨该位点的基因多态性与非阻塞性无精症的相关性。方法:以贵州地区临床确诊的非阻塞性无精症患者(病例组)及男性健康体检人群(对照组)为研究对象,酚氯仿抽提法提取全血基因组DNA,Taq Man-MGB探针实时荧光定量PCR对SIRPA-SIRPG基因rs6080550位点基因分型,比较两组受检者SIRPA-SIRPG基因rs6080550位点基因型及等位基因频率,同时分析该位点的多态性与贵州地区非阻塞性无精症的相关性。结果:疾病组TT基因型及T等位基因频率均显著高于对照组(P <0. 05),携带rs6080550 TT基因型可能增加人群中非阻塞性无精症的患病风险(OR=13. 52,P <0. 05)。结论:rs6080550位点多态性与贵州人群非阻塞无精症可能相关,携带SIRPA-SIRPG基因rs6080550位点TT基因型可能增加非阻塞性无精症的患病风险。
Objective: To investigate the single nucleotide polymorphism( SNP) locus rs6080550 genotyping of SIRPA-SIRPG gene in non-obstructive azoospermia patients and healthy controls in Guizhou area,and to explore the relationship between rs6080550 polymorphism and non-obstructive azoospermia. Methods: Patients with non-obstructive azoospermia( case group) and healthy men( control group) were selected as subjects. The phenol-chloroform extraction method was used to extract the whole blood genomic DNA,and TaqMan-MGB probe real-time fluorescence quantitative PCR was used to type the rs6080550 locus of SIRPA-SIRPG gene. The genotype and allelic frequency of rs6080550 locus of SIRPA-SIRPG gene were compared between the two groups. At the same time,the relationship between the polymorphism of this locus and non-obstructive azoospermia in Guizhou population was analyzed. Results: The frequency of TT genotype and T allele in the case group were significantly higher than those in control group( P < 0. 05). Carrying rs6080550 TT genotype may increase the risk of non-obstructive azoospermia( OR = 13. 52,P < 0. 05). Conclusion: Rs6080550 polymorphism may be associated with non-obstructive azoospermia in Guizhou population. The TT genotype carrying rs6080550 locus of SIRPA-SIRPG gene may increase the risk of non-obstructive azoospermia.
Objective: To investigate the single nucleotide polymorphism( SNP) locus rs6080550 genotyping of SIRPA-SIRPG gene in non-obstructive azoospermia patients and healthy controls in Guizhou area,and to explore the relationship between rs6080550 polymorphism and non-obstructive azoospermia. Methods: Patients with non-obstructive azoospermia( case group) and healthy men( control group) were selected as subjects. The phenol-chloroform extraction method was used to extract the whole blood genomic DNA,and TaqMan-MGB probe real-time fluorescence quantitative PCR was used to type the rs6080550 locus of SIRPA-SIRPG gene. The genotype and allelic frequency of rs6080550 locus of SIRPA-SIRPG gene were compared between the two groups. At the same time,the relationship between the polymorphism of this locus and non-obstructive azoospermia in Guizhou population was analyzed. Results: The frequency of TT genotype and T allele in the case group were significantly higher than those in control group( P < 0. 05). Carrying rs6080550 TT genotype may increase the risk of non-obstructive azoospermia( OR = 13. 52,P < 0. 05). Conclusion: Rs6080550 polymorphism may be associated with non-obstructive azoospermia in Guizhou population. The TT genotype carrying rs6080550 locus of SIRPA-SIRPG gene may increase the risk of non-obstructive azoospermia.
引文
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[16]ZOU S,LI Z,WANG Y,et al. association study betweenpolymorphisms of prmt6,pex10,sox5,and nonobstruc-tive azoospermia in the Han Chinese population[J]. Bi-ology of Reproduction,2014,90(5):470-479.
[2] CLARK A T. Spontaneous differentiation of germ cellsfrom human embryonic stem cells in vitro[J]. Hum MolGenet,2004,13(7):727-739.
[3]曹云霞,高明.精子发生障碍的遗传学研究进展[J].国际生殖健康/计划生育杂志,2014,33(3):182-185.
[4]HOLSTEIN A F,SCHULZE W,DAVIDOFF M. Under-standing spermatogenesis is a prerequisite for treatment[J]. Reprod Biol Endocrinol,2003,1(1):107.
[5]王小芳,韩水平,周党侠,等. SPO11基因单核苷酸多态性与陕西回族人群非梗阻性无精症相关性研究[J].现代泌尿外科杂志,2012,17(3):290-293.
[6]HU Z B,XIA Y K,GUO X J,et al. A genome-wide asso-ciation study in Chinese men identifies three risk loci fornon-obstructive azoospermia[J]. Nature Genetics,2014,44(2):183-186.
[7]DIETERICH K,SOTORIFO R,FAURE A K,et al. Homo-zygous mutation of AURKC yields large-headed poly ploidspermatozoa and causes male infertility[J]. Nat Genet,2007,39(5):661-665.
[8] ALHALABI M,KENJ M,MONEM F,et al. High preva-lence of genetic abnormalities in Middle Eastern patientswith idiopathic non-obstructive azoospermia[J]. J AssistReprod Genet,2013,30(6):799-805.
[9] EISENBERG M L,BETTS P,HERDER D,et al. In-creased risk of cancer among azoospermic men[J]. FertilSteril,2013,100(3):681-685.
[10]张国铸,黄灿华,周鹏,等. FKBP6基因单核苷酸多态性与原发性无精症相关研究[J].现代生物医学进展,2015,15(9):1640-1642.
[11]宋平平,邹沙沙,杨娟娟,等.中国汉族人群HLA-DRA基因rs7194位点多态性与非梗阻性无精症易感性的关联性分析[J].上海交通大学学报(医学版),2016,36(1):65-69.
[12]刘芳,刘永杰,包俊华,等. PRMT6、PEX10、SOX5和CYP19基因多态性与生精障碍相关性研究[J].宁夏医学杂志,2017,39(2):97-100.
[13]张健,吕茉琦,洪慧慧,等. XRCC1基因rs25487位点多态性与陕西回族男性人群非梗阻性无精症的相关性[J].西安交通大学学报(医学版),2016,37(2):256-259.
[14]EGHBALI M,SADEGHI M R,LAKPOUR N,et al. Mo-lecular analysis of testis biopsy and semen pellet as com-plementary methods with histopathological analysis of tes-tis in non-obstructive azoospermia[J]. J Assist ReprodGenet,2014,31(6):707-715.
[15]SATO Y,JINAM T,IWAMOTO T,et al. Replicationstudy and Meta-analysis of human nonobstructiveazoospermia in Japanese populations[J]. Biology of Re-production. 2013,88(4):87-92.
[16]ZOU S,LI Z,WANG Y,et al. association study betweenpolymorphisms of prmt6,pex10,sox5,and nonobstruc-tive azoospermia in the Han Chinese population[J]. Bi-ology of Reproduction,2014,90(5):470-479.