Problem Numerous lines of evidence implicate Apolipoprotein E (Apo E) in lipid metabolism during pregnancy. Hence, a role for its polymorphism has been envisaged in recurrent pregnancy loss (RPL) considering major structural and functional differences between different Apo E genotypes. Method of study A case control study of 81 women with two or more pregnancy losses that did not have any other known risk factors including anatomic anomalies of the reproductive system, infections, immunologic factors, hormonal imbalances, chromosomal abnormalities and environmental factors was carried out. The control group consisted of 81 women with at least two healthy children and no RPL in their reproductive history. DNA was extracted from the peripheral blood following written consent and Apo E genotyping was carried out by amplifying exon 4 of the gene and subjecting it to digestion by HhaI restriction enzyme. Results Genotyping was concluded by analyzing different fragment sizes produced, which resulted in finding significantly higher frequency of combined E3/E4 and E4/E4 genotypes in the patients (about 20 %) compared to the normal controls (2.4 %). The genotypes were confirmed by DNA sequencing. Conclusion Allelic frequency for E4 was 13.5 % in the patients and only 1 % in the non-RPL group. Our findings confirm and are in line with a number of similar studies carried out on other populations. Therefore, Apo E4 polymorphism seems to be contributing to the thrombophilic risk factors as a background to RPL.

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Background: Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic disorder with autosomal dominant inheritance. There are two distinct phenotypes: BPES type I, which is associated with eyelid abnormalities as well as female infertility or premature menopause due to ovarian resistance to gonadotropins, whereas in type II only eyelid abnormalities are present. Mutations in the forkhead transcription factor 2 (FOXL2) gene are responsible for both types of BPES. Objectives: The purpose of this study was to identify mutations in FOXL2 in two Iranian families (from Tehran) with BPES who were referred to Tehran Medical Genetics laboratory. Methods: The peripheral blood was collected from the affected members of two BPES families and genomic DNA was extracted using salting out method. Then, direct sequencing of whole exon of FOXL2 genewas performed. Results: Two frameshift mutations were identified in FOXL2 gene in two familial cases including NM_023067:c.102_103insA (p.G35Rfs*61)as a novel mutation and NM_023067:c.855_871dup (p.H291Rfs*71) (17-bp insertion). Both mutations cause the protein to be truncated and are responsible for a severe phenotype (BPES type I) which was in harmony with our finding. Conclusions: Our results increased the spectrum of FOXL2 mutations and confirm the mutations associated with BPES type I.