Screening for MEIOB Gene Mutations That Cause Premature Ovarian Insufficiency In Five Palestinian Families

Abstract

Infertility is the failure of a couple to achieve clinical pregnancy within 12 months of unprotected regular intercourse according to World Health Organization (WHO). Female factors account for about 50% of all cases. Approximately there is 30% of couples who suffer from unexplained infertility which may be as a result of causes that could have a correlation with endocrinological balance disorders, or maybe an immunology disorder or even by a genetic issues. MEIOB is a single-stranded DNA-binding protein required for repairing double-strand breaks (DSBs) during early steps of meiosis and crossover formation, thus for proper and correct chromosome synapsis. Absence of MEIOB gene in mice led to sterility in both male and female mice due to meiotic arrest. In this study we carried out Sanger sequencing to screen known mutations in the Palestinian population, in premature ovarian insufficiency (POI), specifically mutations in MEIOB gene, in five Palestinian families which have six females who's suffer from POI. No mutation was detected in any of those individuals. After that we implemented linkage exclusion technique to determine if any of our families cannot be excluded for linkage to the MEIOB gene. Two markers was designed before and after MEIOB gene, results showed homozygous data (in affected and un-affected member of chosen families), which mean that this marker is not informative and can’t be used for linkage exclusion in this family. Unfortunately, the second marker was not informative for same reasons