en تشخیص پیش از تولد سیترولینمی نوع 1; هفت خانواده با جهش c.1168G>A در ژن ASS1 در جنوب غرب ایران: گزارش موارد Reproductive Genetics Case Report Case Report <div style="text-align: justify;"><span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:&quot;Times New Roman&quot;,&quot;serif&quot;"><b><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">مقدمه:</span></span></b><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;"> سیترولینمی نوع 1 یک بیماری اتوزومی مغلوب است که منجر به تجمع آمونیاک در خون می</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">شود و در صورت عدم کنترل ممکن است در ماه</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">های اولیه پس از تولد به کما یا مرگ منجر شود.</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;"></span></span></span></span></span></span></span><br> <span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:&quot;Times New Roman&quot;,&quot;serif&quot;"><b><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">مورد:</span></span></b><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;"> هفت خانواده از جنوب غرب ایران که دارای یک یا چند فرزند در خانواده یا بستگان خود که در ماه</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">های اولیه پس از تولد به دلیل بیماری سیترولینمی نوع 1 فوت کرده</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">اند، برای مشاوره ژنتیک و تشخیص پیش از زایمان مراجعه کرده بودند. بر روی نمونه</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">های خون محیطی و نمونه</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">های پرزهای کوریونی، تعیین توالی کل اگزون&shy;ها انجام شد. تعیین توالی سنگر نتایج آنالیزهای ژنتیکی را تأیید کرد. در هر خانواده، هر دو والدین ناقل جهش </span></span><span dir="LTR" style="font-size:10.0pt">c.1168G> A</span> <span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">در اگزون 15 بودند و جنین در شش خانواده از هفت خانواده برای جایگزینی </span></span><span dir="LTR" style="font-size:10.0pt">A</span> <span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">در ژن </span></span><i><span dir="LTR" style="font-size:10.0pt">ASS1</span></i><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;"> هموزیگوت بود.</span></span></span></span></span></span></span><br> <span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:&quot;Times New Roman&quot;,&quot;serif&quot;"><b><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">نتیجه&shy; گیری:</span></span></b><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;"> وجود یک جهش مشترک در ژن </span></span><i><span dir="LTR" style="font-size:10.0pt">ASS1</span></i><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;"> در تمام خانواده</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">های مبتلا در جنوب غرب ایران نشان</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span style="font-family:&quot;B Mitra&quot;">دهنده خوشه احتمالی جمعیتی در این منطقه است.</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;"></span></span></span></span></span></span></span><br> <span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:&quot;Times New Roman&quot;,&quot;serif&quot;"><span dir="LTR" style="font-size:11.0pt"><span style="font-family:&quot;Arial&quot;,&quot;sans-serif&quot;"></span></span></span></span></span></span></span></div> <div style="text-align: justify;"><span style="font-family:Times New Roman;"><span style="font-size:11pt"><span style="line-height:normal"><b><span style="font-size:12.0pt">Background:</span></b><span style="font-size:12.0pt"> Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.</span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><b><span style="font-size:12.0pt">Cases presentation:</span></b><span style="font-size:12.0pt"> 7 families from Southwest Iran having one or more children in their families or relatives, who died in the early months after birth due to citrullinemia type 1 visited for genetic counseling and prenatal diagnosis. Whole-exome sequencing was performed on peripheral blood specimens and chorionic villus samples. Sanger sequencing confirmed the genetic results. Both parents were identified as carriers for the exon 15 c.1168G>A mutation in each family. The fetus in 6 out of 7 families was homozygote for A substitution on the </span><span style="font-size:12.0pt">argininosuccinate synthetase 1 gene.</span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><b><span style="font-size:12.0pt">Conclusion:</span></b><span style="font-size:12.0pt"> The presence of a common mutation in the </span><span style="font-size:12.0pt">argininosuccinate synthetase 1<i> </i>gene in all affected families of Southwest Iran shows a possible population cluster in this area.</span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="text-autospace:none"><span style="font-family:Calibri,&quot;sans-serif&quot;"><span style="font-size:10.0pt"><span style="font-family:&quot;Times New Roman&quot;,&quot;serif&quot;"></span></span></span></span></span></span></div> آرژینینوسوکسینات سنتتاز, نمونه­گیری از پرزهای کوریونی, جهش­های نقطه­ای. Argininosuccinate synthetase, Chorionic villus sampling, Point mutation. 1047 1050 http://ijrm.ir/browse.php?a_code=A-10-1985-1&slc_lang=en&sid=1 Maryam Hassanlou m.hassanlou@semnan.ac.ir 0000-0002-0856-4236 Yes Farzanegan Campus, Semnan University, Semnan, Iran. Maryam Abiri Abiri.m@iums.ac.ir 0000-0002-5004-8390 No Department of Medical Genetics, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran. Shahid Akbarabadi Clinical Research Development Unit, Iran University of Medical Sciences, Tehran, Iran. Sirous Zeinali zeinali@gmail.com 0000-0002-2080-9582 No Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.