在一个家族中鉴定出Xq22.1-23区域与遗传性复发性自然流产相关。
Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family.
作者信息
Shekouhi Sahar, Baghbani Fatemeh, Hasanzadeh Nazar-Abadi Mohammad, Hamzehloie Tayebeh, Abbaszadegan Mohammad Reza, Saghafi Nafiseh, Raoofian Reza, Zavar Reza Javad, Ahmadzadeh Shahab, Tabatabaiefar Mohammad Amin, Mojarrad Majid
机构信息
Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Gynecology, Qaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
出版信息
Iran J Reprod Med. 2013 Aug;11(8):659-64.
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. This article extracted from M.Sc. thesis. (Sahar Shekouhi).
背景
复发性自然流产（RSA）是最常见的健康并发症之一，具有很强的遗传因素。几种遗传疾病被确定为遗传性X连锁RSA的病因。然而，更多的遗传因素仍有待确定。
目的
在本研究中，我们对一个大型X连锁RSA家系进行连锁分析，以寻找RSA的一个新的易感基因座。
材料与方法
对一个大型遗传性X连锁RSA家系的27名成员进行了使用11个微卫星的连锁扫描。使用Superlink v 1.6程序进行两点参数连锁分析。
结果
观察到与Xq23上的标记DXS7133以及Xq22.1上的标记DXS101存在连锁证据，LOD值分别为3.12和1.60。
结论
本研究中确定的基因座可能携带RSA的致病基因。缩小该区域范围可能会导致该基因的鉴定。本文摘自硕士论文。（萨哈尔·谢科希）
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