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

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)