Deletion Of DBY Gene On Y Chromosome In Testicular Tissue Of Azoospermia

Objective :Microdeletion of azoospermia factor(AZF)on the Y chromosome accounts for about 10% of male infertility causes,which is one of the main causes of male infertility.AZF gene fragment is the main condition for men to have spermatogenic function;its microdeletion will lead to spermatogenic dysfunction,which is clinically manifested as severe oligospermia and azoospermia.Although AZFa has a small probability of microdeletion,once it appears,the consequences are serious.The DBY gene is one of the main candidate genes in the AZFa region on the Y chromosome.In this study,PCR method was used to detect the deletion of DBY gene on Y chromosome in testicular tissues of patients with and azoospermia,and to explore the relationship between microdeletion of Y chromosome and clinical manifestations related to male infertility,for the clinical diagnosis and treatment of male infertility.Provide a theoretical basis.Method:Collected 75 patients with azoospermia who attended the Second People's Hospital of Gansu Province and the People's Hospital of Gansu Province from December 2017 to October 2019.Among them,41 were azoospermia patients(6 karyotype abnormalities were found after testing,2 of which were Creutzfeldt-Jakob syndrome)as experimental group.34 cases of oligospermia were positive control group.25 patients with testicular trauma who came to Gansu Provincial Second People's Hospital and Gansu Provincial People's Hospital for normal birth were the negative control group.The experiment was approved by the ethics committee and the patient.The experimental group and the control group underwent local anesthesia with puncture biopsies of about 5mm in size on both sides of the testis,and divided the tissue into 2mm and 3mm pieces;2mm testis tissue was used for routine pathological smears;3mm testis tissue was used to extract DNA For PCR amplification.Using the sex-determining gene(SRY gene)primer as an internal control,PCR was used to amplify the DBY gene on the Y chromosome of testis tissue.The experimental results were statistically analyzed using Fisher's exact probability method on a four-grid table.Result:The testis tissue specimens of the experimental group and the control group can amplify the SRY band,which indicates that the DNA template extracted from the testis tissue is in accordance with the experimental requirements.All the gene loci of the 25 control groups showed amplified bands,indicating that there was no deletion of the DBY gene.Among the 35 azoospermia patients,no DBY gene amplification band was found in 5 patients,indicating the absence of the DBY gene,accounting for 14.3%(5/35)of patients with azoospermia.The statistical analysis of DBY gene deletion in azoospermia patients and negative control group P<0.05(P=0.048),indicating that the deletion of DBY gene in azoospermia patients and negative control group has statistical significance.The pathology of testicular tissue biopsy of 5 patients with microdeletions all showed type 1 Sertoli cellonly syndrome(SCOS?);the pathological changes of testis in line with DBY gene microdeletions showed that DBY gene and spermatogenesis are closely related,which further confirmed the DBY gene and Testicular spermatogenesis may be related.Conclusions:1.The study found that the DBY gene was deleted in azoospermia patients,while there was no deletion in positive control group and negative control group,which indicates that the DBY gene and azoospermia The disease is closely related.The DBY gene may play an important role in spermatogenesis,and its deletion may lead to azoospermia,which in turn causes male infertility.The 34 cases of oligozoospermia in this study did not detect the deletion of the DBY gene,which may be related to the number of specimens,site selection,ethnic and regional differences.2.Patients with azoospermia caused by microdeletion of DBY gene can also use volunteer donation for insemination and artificial insemination to assist in pregnancy;or find out the root cause of gene knockout or introduction.3.For male infertility patients,a Y-chromosome test can be performed on the patient and a testicular biopsy can be performed to determine the cause of infertility,which can avoid unnecessary treatment and reduce the mental stress and financial burden of the patient.