ABSTRACT
Background and Aim: Abortion is spontaneous termination of pregnancy before the 20[th] week. Recurrent pregnancy loss [RPL], also referred to as recurrent miscarriage or habitual abortion, is historically defined as 3 consecutive pregnancy losses. There are several known risk factors associated with recurrent miscarriages, including genetic, endocrine, autoimmune, anatomical. Causes of recurrent miscarriages in 50% of the cases remain unexplained. It has been hypothesized that genetic polymorphism in estrogen receptor genes would be associated with recurrent miscarriages
Material and Materials: This study included 80 patients with a history of three or more consecutive unexplained abortions and 80 women with at least 2 live births without any miscarriage. Then we investigated estrogen receptor gene polymorphism in the participants by allele specific polymerase chain reaction [AS-PCR] method
Results: The frequencies of rs1256149 polymorphisms among the women with recurrent abortions and also the women in the control group were 80% and 62.5% respectively. There was a significant difference in the genotype frequencies between RPL and the control groups [p=0.028]
Conclusion: These findings indicated that estrogen receptor polymorphism can be regarded as a genetic marker for recurrent spontaneous abortions
ABSTRACT
Mitochondrial DNA [mtDNA] has several features, which makes it useful for personal identification especially when there isn 't enough nuclear DNA. The high copy, resistance to degradation, and short size are some of them. mtDNA has a zone that is called hypervariable region [HVR] and is divided in two regions: HVl and HV2. 10 unrelated families in 3 sequential maternal generations [grandmother, mother, and grandchild] were selected randomly. Blood samples were taken and mtDNA extracted. Then HV2 sequence analysis was determined. 49 polymorphic nucleotide positions were found in this region. The sequence of HV2 and the occurred polymorphisms were similar in each family except 5 sites ofheteroplasmy. The average number of nucleotide differences between families was 2.8 nucleotides. mtDNA sequence analysis of the hypervariable regions is an effective tool for personal identification, especially for old, small, and highly degraded samples