Investigation Of Y-chromosome Microdeletions In Male Infertility

Objective: The aim of this study was to establish the prevalence , type and the characteristic of microdeletions on the Y chromosome in infertile man with idiopathic azoospermia and severe oligozoospermia; Application of capillary electrophoresis for detection of PCR products provides a speed resolution and sensitivity way for screening of microdeletions on the Y chromosome compared with conventional methods,and to improve the veracity of diagnosis of Y chromosome microdeletions. Methods:Thirty-three men with idiopathic infertility and 6 male and 2 female controls from our hospital were included in this study. All these patients were referred cases from the Departments of reproductive medicine centre of Anhui provincial hospital. The infertility group included 4 males with idiopathic azoospermia and 29 with severe oligozoospermia. This diagnosis was made on the basis of semen analysis according to WHO guidelines[1]. Semen analysis was done to determine the sperm density, i.e. normo-spermia (>20 million per ml) severe oligozoospermics /azoosp-ermics patients had the sperm counts below 0.5 × 10~6 cells per ml. Fifteen gene-specific primers on Y chromosome where azoospermia factor loci were amplified from peripheral blood samples taken from the patients , men with proven fertility and fertile females to use as positive and negative controls,respectively, by using multiplex polymerase chain reaction(PCR),scanning reaction products using agarose gel electrophoresis and capillary electrophoresis.Results: Y chromosome microdeletion was observed in 3 of the 4 males with azoospermia,and in 6 of the 29 males with severe oligozoospermia. Thereinto,in 15 sequence tagged sites(STS),5 of which were simultaneity deleted in 6 cases as SY254(C) , SY242 (C), SY255 (C) , SY239 (C) , SY152 (D) . The higher incidence of deletions is in region of AZFc and AZFd,but no independent deletion is found in...