Microdeletion analysis of the AZF locus of the chromosome Y in infertile males

Introduction. One of the major genetic causes male infertility are deletions in AZF locus (Yq11) that associated with various spermatogenesis abnormalities from hypospermatogenesis to «Sertoli cells only syndrome», appearing mostly azoospermia or severe oligozoospermia. Materials and methods. At the clinical and genetic examination of 63 infertile kyrgyz males microdeletion analysis of AZF locus was performed. Y-chromosome deletions were founded in 7 cases: two AZFb-microdeletions, four microdeletion in AZFc-subregion and one microdeletion in AZFa+b+c-subregion. The examination of patients included common clinical, general and special andrological study, a spermatological (standard spermiological study, in some cases a histological examination of the testicular biopsy), a molecular genetic study (analysis of Y chromosome microdeletions). Conclusion. The frequency detection microdeletions Y-chromosome among infertile men varies considerably in different studies (from 1% to 35%). A wide spread of deletion frequencies is due to the influence of a number of factors, among which the most important are the criteria for selecting patients for microdeletion analysis, on average, the presence of AZF-locus deletions in 7.5% of men with infertility was revealed, with the highest frequency of deletions among men with idiopathic azoospermia (18%) or severe oligozoospermia of unknown origin (14.3%). The amount of deletions obtained from the study is generally similar to the pattern of deletions occurring in individual subregions or in several exciting regions, as well as similar in the frequency of microdeletions occurring on average in Asian populations. At the same time, the ratio between different types of deletions revealed by us generally reflects the structure of deletion disorders in AZF locus in men with infertility.