Baroli P, Ruggeri A M, Barlocco A, Maggi F
Sezione di Biologia Molecolare, Laboratorio Toma, Busto Arsizio (VA).
Arch Ital Urol Androl. 1998 Apr;70(2):115-8.
Microdeletions in AZF (Azoospermia Factor) region of the Y Chromosome have been recently described in azoospermic or oligozoospermic men. A Y chromosome molecular analysis was performed in peripheral blood DNA obtained from 16 azoospermic patients. Microdeletions within the interval 6 of the long arm of chromosome Y were analysed using the PCR (Polimerase Chain Reaction) technique. The presence of the DAZ (SY255) sequence was tested in 6 patients, while the remaining 10 patients were analysed for 6 different loci mapped to AZFb and AZFc regions. Microdeletion was detected in one azoospermic patient in the YRRM2 sequence. This result supports the finding of microdeletions not involving the DAZ sequence and suggests that routine investigation of azoospermic patients for microdeletions spanning the interval 6 region of y chromosome is also required.
近期研究发现，无精症或少精症男性的Y染色体上存在无精子症因子（AZF）区域的微缺失。对16例无精症患者外周血DNA进行了Y染色体分子分析。采用聚合酶链反应（PCR）技术分析Y染色体长臂区间6内的微缺失情况。对6例患者检测了DAZ（SY255）序列的存在情况，其余10例患者分析了映射到AZFb和AZFc区域的6个不同位点。在1例无精症患者的YRRM2序列中检测到微缺失。这一结果支持了不涉及DAZ序列的微缺失的发现，并表明对无精症患者进行Y染色体区间6区域微缺失的常规检测也是必要的。
