تشكل الخبون (الحذوفات) الصغرية microdeletions للصبغي Y و الشاملة لموقع عامل اللانطفية AZF) azoospermic factor )السبب الوراثي الجزيئي الأكثر شيوعاً لفشل الإنطاف. و مع عدم وجود إجماع علمي مطلق على العلاقة بين نمط الخبن الصغري و الخلل الناجم عنه في عملية الإنطاف، إِذ يقود الخبن الشامل للموضع AZFa غالباً إلى متلازمة خلايا سيرتولي الوحيدة، كما يسبب خبن الموضع AZFb توقفاً في الانقسام الانتصافي محدثاً توقفاً في نضج النطاف، في حين ينتج عن خبن الموضع AZFc نقص متفاوت في الإنطاف. هدف هذا الأول إلى دراسة انتشار الخبون الصغرية Y و أنماطها لدى مرضى انعدام النطاف غير الانسدادي المجهول البحث السبب في عينة من مجتمعنا العربي السوري، و علاقة كل نمط منها مع إمكانية الحصول على النطاف من الخصية.
Background& Objective: Microdeletions of the Y-chromosome removing the azoospermia factor (AZF)
region are the most frequent molecular genetic cause of spermatogenic failure. Although there is still no
definitive consensus on the relationship between the type of microdeletion and the resulting sperm defect,
microdeletions in AZFa lead mostly to Sertoli cell only syndrome, mutations in AZFb provoke
interruption in meiosis I and mutations in AZFc result in hypospermatogenesis. Our objective is to
evaluate the frequency and types of Y-chromosome microdeletions in patients with idiopathic nonobstructive
azoospermia (NOA) and its relationship with successful sperm retrieval.
References used
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Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoo- spermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet. 2008;25:559–65
Zhu YJ, Liu SY, Wang H, Wei P, Ding XP. The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology. Asian J Androl. 2008;10(6):873–81
World Health Organization. Towards more objectivity in diagnosis and management of male fertility. Int J Androl. 1987;7(Suppl):1– 53
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