Title of article :
Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family
Author/Authors :
Shekouhi ، Sahar نويسنده Medical Genetics Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Shekouhi , Sahar , Baghbani، Fatemeh نويسنده Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. , , Hasanzadeh-NazarAbadi، Mohammad نويسنده Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. , , Hamzehloie، Tayebeh نويسنده Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. , , Abbaszadegan، Mohammad Reza نويسنده , , Saghafi، Nafiseh نويسنده Department of Obstetrics and Gynecology, Qaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran , , Raoofian، Reza Reza نويسنده Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Raoofian, Reza Reza , Zavar-Reza، Javad نويسنده Department of Biochemistry, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran , , Ahmadzadeh، Shahab Shahab نويسنده Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Ahmadzadeh, Shahab Shahab , Tabatabaiefar، Mohammad Amin نويسنده Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences,Isfahan, Iran , , Mojarrad، Majid Majid نويسنده Department Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Mojarrad, Majid Majid
Issue Information :
فصلنامه با شماره پیاپی سال 2013
Pages :
6
From page :
659
To page :
664
Abstract :
مقدمه: سقط مكرر خودبه خودي (RSA) يكي از مهم ترين مشكلات بهداشتي مي باشد كه داراي بخش قوي ژنتيكي است. اختلالات ژنتيك متعددي به عنوان عوامل ايجاد موارد RSA داراي الگوي وراثت وابسته به كروموزوم X شناسايي شده اند. با اين حال بيشتر عوامل ژنتيكي ايجادكننده اين حالت ناشناخته باقي مانده اند. هدف: در اين مطالعه به منظور شناسايي لكوس استعداد براي سقط مكرر در يك شجره بزرگ مبتلا به سقط مكرر وابسته به جنس بررسي پيوستگي ژنتيكي انجام شد. مواد و روش ها: بررسي پيوستگي با استفاده از 11 لكوس ميكروساتليت بر روي 27 عضو از يك خانواده بزرگ مبتلا به سقط مكرر وابسته به جنس انجام شد. با استفاده از برنامه نرم افزاري Superlink v 1.6 بررسي پيوستگي دو نقطه اي پارامتريك انجام شد. نتايج: شواهد وجود پيوستگي ژنتيكي با ماركر واقع در ناحيه Xq23 (DXS7133) و با نمره 12/3=LOD و Xq22.1 (DXS101) با نمره 60/1=LOD مشاهده شد. نتيجه گيري: لكوس شناسايي شده در اين مطالعه احتمالا حامل يك ژن مسيول براي سقط مكرر وابسته به جنس است. با محدودكردن اين ناحيه در مطالعات بعدي احتمالا مي توان ژن مسيول اين بيماري را شناسايي نمود.
Abstract :
Background: Recurrent spontaneous abortion (RSA) is one of the most common health complications with a strong genetic component. Several genetic disorders were identified as etiological factors of hereditary X linked RSA. However, more genetic factors remain to be identified. Objective: In this study we performed linkage analysis on a large X linked RSA pedigree to find a novel susceptibility locus for RSA. Materials and Methods: A linkage scan using 11 microsatellites was performed in 27 members of a large pedigree of hereditary X-linked RSA. Two point parametric Linkage was performed using Superlink v 1.6 program. Results: Evidence of linkage was observed to markers at Xq23, DXS7133 and at Xq22.1 DXS101, with LOD score of 3.12 and 1.60, respectively. Conclusion: Identified locus in this study may carry a responsible gene in RSA. Narrowing down of this region may leads to identification of this gene.
Journal title :
International Journal of Reproductive BioMedicine
Serial Year :
2013
Journal title :
International Journal of Reproductive BioMedicine
Record number :
2391819
Link To Document :
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