en شیوع وقوع ریزحذف های کروموزوم Y در مردان نابارور با آزواسپرمی و اولیگواسپرمی در شمال شرق چین  Original Article Original Article <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">مقدمه: </span></span></strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">در بعضی از موارد مردان نابارور یک حذف کوچک ژن&shy;های خاص را در کروموزوم </span></span><span dir="LTR"><span style="font-size:10.0pt;">Y</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> نشان می&shy;دهند. ثابت شده است که این ژن&shy;های حذف شده در ارتباط با ناتوانی در اسپرماتوژنز می&shy;باشند. به&shy;هرحال شیوع و نوع این حذف&shy;ها در بین مردان نابارور هنوز کاملا مشخص نیست.</span></span><span style="font-family:b nazanin;"><span style="font-size:14.0pt;"></span></span><br> <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">هدف: </span></span></strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">در این مطالعه شیوع و نوع ریزحذف&shy;های کروموزوم </span></span><span dir="LTR"><span style="font-size:10.0pt;">Y</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> در مردان نابارور آزواسپرمیک و اولیگواسپرمیک شمال شرق چین بررسی و سعی گردید که مناطق خاص توالی (</span></span><span dir="LTR"><span style="font-size:10.0pt;">STSs</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">) ریزحذف&shy;های </span></span><span dir="LTR"><span style="font-size:10.0pt;">AZF</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> را در مولتی&shy;پلکس </span></span><span dir="LTR"><span style="font-size:10.0pt;">PCR</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> تعیین گردد.</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"></span></span><br> <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">مواد و روش&shy;ها:</span></span></strong> <span style="font-family:b mitra;"><span style="font-size:11.0pt;">720 مرد نابارور آزواسپرم و 330 اولیگواسپرم از شمال شرق چین در این مطالعه گذشته نگر وارد شدند. آزمایش منی بر اساس دستورالعمل </span></span><span dir="LTR"><span style="font-size:10.0pt;">WHO</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> انجام شد. ریزحذف&shy;های کروموزوم </span></span><span dir="LTR"><span style="font-size:10.0pt;">Y</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> به&shy;وسیله </span></span><span dir="LTR"><span style="font-size:10.0pt;">PCR</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> بررسی و جهت مطالعه کاریوتایپ از </span></span><span dir="LTR"><span style="font-size:10.0pt;">G</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> باندینگ استفاده شد. جهت مقایسه ریزحذف&shy;های کروموزوم </span></span><span dir="LTR"><span style="font-size:10.0pt;">Y</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> در بیماران آزواسپرم و اولیگواسپرم از آزمایش </span></span><span dir="LTR"><span style="font-size:10.0pt;">chi-square</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> استفاده شد.</span></span><br> <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">نتایج:</span></span></strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> از 1050 مورد نابارور، 10/57% ریزحذف کروموزوم </span></span><span dir="LTR"><span style="font-size:10.0pt;">Y</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> را نشان و 19/43% دارای کاریوتایپ غیرطبیعی بودند. حذف ناحیه </span></span><span dir="LTR"><span style="font-size:10.0pt;">AZFc</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> شایع&shy;ترین حذف با 74/81% و بعد از آن حذف </span></span><span dir="LTR"><span style="font-size:10.0pt;">AZFb</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> با 13/33%، ناحیه </span></span><span dir="LTR"><span style="font-size:10.0pt;">AZFbc</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> با 9/62% و ناحیه </span></span><span dir="LTR"><span style="font-size:10.0pt;">AZFa</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> با 22/2% بود. تمام مردان اولیگواسپرم دارای نواحی </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY84</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">، </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY86</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">، </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY127</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> و </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY134</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> بودند. حذف </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY127</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> به طور معنی داری در ارتباط با آزواسپرمی بود (0/0082=</span></span><span dir="LTR"><span style="font-size:10.0pt;">p</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">). </span></span><br> <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">نتیجه&shy;گیری:</span></span></strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> حذف </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY127</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> ممکن است در ارتباط با آزواسپرمی باشد در حالیکه ما می توانیم از آزمایش </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY84</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">، </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY86</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> و </span></span><span dir="LTR"><span style="font-size:10.0pt;">sY127</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> در اولیگواسپرمی صرف&shy;نظر کنیم.</span></span> <strong>Background:</strong> In some cases infertile men showed small deletions of specific genes in the Y chromosome. It had been confirmed, these deleted genes are greatly associated with spermatogenic failure. However, the frequency and the patterns of such microdeletions among infertile men are not clearly clarified.<br> <strong>Objective:</strong> We sought to determine the frequency and the patterns of Y chromosome microdeletions in azoospermic and oligozoospermic infertile men in Northeast China, and try to optimize the selection of sequence tagged sites (STSs) of AZF microdeletions in multiplex polymerase chain reaction (PCR).<br> <strong>Materials and Methods:</strong> 720 azoospermic and 330 oligozoospermic infertile men, from Northeast China were included in this retrospective study during May 2008 to November 2012. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome microdeletions were detected by polymerase chain reaction assays. G-banding method was used for chromosome Karyotype analysis. Chi-square tests were used to compare patterns of Y chromosome microdeletions in azoospermic and oligozoospermic patients.<br> <strong>Results:</strong> Of 1050 infertile men, 12.95% cases had shown Y chromosome microdeletions, and 19.43% of cases showed abnormal chromosomal karyotype. Deletions in AZFc region was the most frequent 75.00%, followed by deletions in AZFb region 13.33%, AZFbc region 09.62%, and AZFa region 2.22%. All oligozoospermic patients showed presence of sY84, sY86, sY127, and sY134. Deletion of sY127 (p=0.0101) and sY157 (p=0.0043) showed significant difference between azoospermic group and oligozoospermic group.<br> <strong>Conclusion:</strong> Deletions of sY127 may relate to azoospermia while sY84, sY86, sY127 can be ignored in AZF screening for oligozoospermic patients. آزواسپرمی غیرانسدادی, اولیگواسپرمی, ریزحذف کروموزوم Y, مولتی پلکس PCR Azoospermia, Oligozoospermia, Y chromosome microdeletions, PCR. 383 0 http://ijrm.ir/browse.php?a_code=A-10-1-355&slc_lang=en&sid=1 Fadlalla Elfateh No Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China Dai Rulin No Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China Yun Xin No Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China Li Linlin No Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China Zhu Haibo No Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China Rui-Zhi Liu lrz420@126.com Yes Center for Reproductive Medicine, First Bethune Hospital, Jilin University, Changchun, China