Detection Of Microdeletions In Azoospermia Factor (AZF) In Y Chromosome From Oral Exfoliated Cells

Objective:The prevalence of infertility is increasing year by year, of which male infertility caused by many reasons, such as genetic factors, endocrine factors, environmental factors, but there are still a part of azoospermia and severe oligozoospermia were unclear reasons, more performance Fine living obstacles, Y chromosome (Yq) azoospermia factor (AZF) region microdeletions lead to significant genetic spermatogenesis disorder risk factors, currently divided into AZFa, AZFb and AZFc microdeletions in three regions. Screening for AZF microdeletion screening in male infertility has its necessity and importance of family in the screening of infertile men is also necessary. This study attempts to explore the same individual detection of oral epithelial cells and the blood relationship between AZF deletion, oral exfoliated cells of the feasibility of detecting AZF to the clinical detection of AZF deletion, choose a simple and noninvasive method of alternative derived Peripheral blood.Methods:In urology clinics and infertility clinics, selected study of 287 patients, of which severe oligospermia 120 cases,80 cases of azoospermia, the average age of 28±0.48 years; 87 patients had normal normal male fertility, Age (27.4±0.6) years, the sperm density> 20 x 106/ml, fast forward to the forward movement of sperm movement and the rate of> 60%, testicular volume, karyotype analysis was normal. Severe oligospermia, azoospermia diagnostic criteria in accordance with the 1999 version of "WHO of human semen and sperm-cervical mucus interaction laboratory manual", before the pumping test check blood karyotype (G banding), anti-sperm antibodies (ELISA) and serum hormone levels (follicle stimulating hormone, luteinizing hormone, testosterone, radioimmunoassay), not included in the study abnormal.11 normal women as negative control. Multiplex PCR, were used to detect oral epithelial cells, blood AZF region of the genome of Y chromosome microdeletions.Results:The multiplex PCR after electrophoresis images, after inspection and verification, samples were detected AZF deletion, number exactly the same, and the lack of the same type. Including 200 patients,29 patients show genomic AZF gene microdeletion, AZFa microdeletion in 1 case, accounting for 0.5%, AZFb microdeletion in 1 case, accounting for 0.5%, AZFc area microdeletions in 16 cases, accounting for 8.0%, AZFa+b+c in 5 cases,accounted for of 2.5%, AZFb+c in 6 cases accounting for 3.0%. The remaining 171 patients and 87 normal controls were genomic no AZF gene microdeletion. Detection of AZF deletion in the same individual, oral exfoliated cells and the blood is completely consistent.Conclusion:we can use oral exfoliated cells to replace blood cells as sample for Y chromosome microdeletions screening completely as one of the simple,no harm and accurate methods.