Screening for Y chromosome microdeletions in childhood: lack of evidence for a direct association with testicular maldescent.

摘要: Summary The aim of the study was to investigate hypothesis that Y chromosome microdeletions are directly implicated in testicular maldescent. Genomic DNA extracted from peripheral blood 292 subjects. This population consisted (i) 180 children with all phenotypes isolated (non-syndromic) maldescent 174 index families, (ii) affected adult relatives available (n = 12) and (iii) 100 unrelated normal external genitalia (controls). The sequence-tagged site primer set conditions conventional polymerase chain reaction amplification were based on current laboratory guidelines for molecular diagnosis recommended by European Academy Andrology Molecular Genetics Quality Network. Two multiplex reactions designed screen regions azoospermic factors a, b c. Each included adequate internal controls. Amplification products submitted electrophoresis 2% agarose gel impregnated ethidium bromide dye solution 80 volt-h visualised under ultraviolet light. No detected any subject. These results indicate not pathogenesis Other should be investigated potentially explain genetic predisposition seems exist at least a subgroup these patients.