Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family

Sahar Shekouhi; Fatemeh Baghbani; Mohammad Hasanzadeh Nazar-Abadi; Tayebeh Hamzehloie; Mohammad Reza Abbaszadegan; Nafiseh Saghafi; Reza Raoofian; Javad Zavar Reza; Shahab Ahmadzadeh; Mohammad Amin Tabatabaiefar; Majid Mojarrad

Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family

Iran J Reprod Med. 2013 Aug;11(8):659-64.

Affiliations

¹ Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
² Department of Gynecology, Qaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
³ Department of Biochemistry, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
⁴ Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

PMID: 24639804
PMCID: PMC3941371

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. This article extracted from M.Sc. thesis. (Sahar Shekouhi).

Keywords: Linkage; Recurrentspontaneousabortion; X-linked.