1. Sana Institute, Sari 2. 2Department of Basic Sciences, Sari Agricultural Sciences and Natural Resources University, Sari 3. Cellular and Molecular Research Center, Obesity Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Normal chromosome segregation particularly depends on the formation of synaptonemal complex (sc) during prophase of meiosis i. maternal age is strongly positively associated with the prevalence of aneuploidies, including down syndrome, in spontaneously aborted fetuses and newborns (1). sycp3 gene mutations have been shown to generate an aberrant synaptonemal complex in a dominant-negative manner and to contribute to abnormal chromosomal behavior that might lead to recurrent miscarriage (2). in present research, we studied common mutations detected in exon 8 of sycp3 gene in pregnant women who conferred to genetics laboratory of mohheb yas hospital in tehran province.
Sycp3 gene single nucleotide polymorphisms was examined using pcr and sequencing in amniotic samples of 50 pregnant women with a history of embryonic aneuploidy and recurrent miscarriages because of chromosomal abnormality and 50 pregnant women with normal fetus and no history of miscarriage and abnormal embryonic karyotype. statistical analysis was performed by logistic regression method and p<0.05 was considered as significant level.
More than 20 single nucleotide polymorphisms found in intronic boundaries of patients, 2 of which is reported in this report for the first time. the -33 c>a mutation was revealed in 62% of patients. statistical analysis showed that there is significant relationship between presence of -33 c>a nucleotide polymorphism and the age of pregnant mother (p < 0.05).
Pregnancy at higher age is attributed to sycp3 gene polymorphism which may be a cause for chromosomal nondisjunction leading to trisomic feature. screening for this single nucleotide polymorphism especially in higher age of pregnant mother may be helpful as a marker to prevent occurrence of potentially trisomic chromosomal abnormalities.