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Research Of Correlation Between Telomerase Reverse Transcriptase TERT Gene Polymorphism And Telomere Length And Male Infertility

Posted on:2021-03-14Degree:MasterType:Thesis
Country:ChinaCandidate:Y R MengFull Text:PDF
GTID:2404330614468645Subject:Genetics
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Objective:Infertility is a reproductive system disease.More than 48million couples around the world suffer from infertility,of which male infertility accounts for about 40%,male infertility seriously affects health and family happiness.Telomeres are nucleoprotein structures at the ends of chromosomes.When cells divide,telomeres are shortened,and telomerase expression can reverse the shortening of telomere length.Telomerase remains active in germ cells during spermatogenesis.Decreased telomerase activity and shortened telomere length can lead to cell apoptosis,and reduce the number and fertilization ability of sperm.In this study,the test compared the difference in frequency distribution for genotypes and allele of rs2075786 and rs2853676 and sperm telomere length between the case group and the control group.To analyze the relationship between sperm telomere length,telomerase and male fertility,and explore the issue that whether it is possible to use telomere length or telomerase as a new prognostic biomarker in fertility treatment.Methods:1.100 cases of male infertility patients from the Second Hospital of Hebei Medical University were selected as case groups from September 2018 to December 2018,and meanwhile 100 healthy men who had been selected as normal control group.Taking the sperm sample,extracting DNA,using polymerase chain reaction(PCR)and sequencing of amplification products for the two SNPs loci rs2075786 and rs2853676 of TERT gene,and analyzing the differences in allele frequencies and genotype frequencies between the two samples.2.100 cases of semen samples from normal control group and idiopathic infertility cases were collected,extracting DNA,and the average telomere length of semen was determined by Q-PCR.Comparing the difference of T/S ratio between the two samples.3.Statistical analysis:The conformity of the rs2075786 and rs2853676sites of the TERT gene with the Hardy-Weinberg genetic balance in the normal control group and the case group was detected by HWE software;X~2test was used to compare whether it was different about the allele frequencies and genotype frequencies of the two SNPs for the TERT gene between the normal control group and the case group;The t-test was used to compare the difference of telomere length.The relationship between sperm telomere length and semen parameters was analyzed by Pearson correlation.All data were analyzed by SPSS20.0 software,P<0.05 was statistically significant.Results:1.The rs2075786 site and rs2853676 site of the TERT gene were consistent with the Hardy-Weinberg genetic balance between the case group and the control group(P values were 0.104 and 0.153,respectively,greater than0.05),indicating that the sample has a good population representative;2.There was no significant difference in allele frequency and genotype frequency between the male infertile patients and healthy controls between the rs2075768 and rs2853676 loci of the TERT gene;3.The relative telomere length(T/S ratio)of the normal control group(2.677±3.538)was higher than that of the case group(1.223±0.846),and the difference of result was statistically significant(P<0.01).The idiopathic male infertility cases were grouped according to the results of semen analysis,and each group was compared with the normal control group.The results showed the sperm-relative telomere length(T/S ratio)of patients with weak sperm and oligozoospermia(1.453±0.987 and 1.053±0.785)were significantly lower than the normal control group(2.677±3.538),the difference of result was statistically significant(P=0.019 and P=0.002);4.The relative telomere length of sperm was positively correlated with the sperm concentration of patients(r_p=0.317,P=0.001),the sperm concentration is higher,and the sperm is longer than the telomere length.Conclusions:1.The rs2075786 and rs2853676 sites of the TERT gene may not be related to male infertility;2.Telomere length can be used as biomarkers of male fertility.
Keywords/Search Tags:Telomerase reverse transcriptase, TERT, Telomere length, Male infertility
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