Mitotic Arrest Deficient 2 Like 1 (MAD2L1) Gene Variations in Products of Conception with Aneuploidy
Publish place: 20th congress on reproductive biomedicine and 15th congress on stem cell biology & technology
Publish Year: 1398
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
RROYAN20_238
تاریخ نمایه سازی: 29 مهر 1398
Abstract:
Background: Genomic abnormalities certainly aneuploidy are one of the most common cause of spontaneous abortion. Although aneuploidy is associated with advanced maternal age it is frequent in young women. Spindle assembly check-point (SAC) complex has a critical role in fidelity of chromo-some segregation. Several genes are involved in SAC, such as MAD1L1, MAD2L1 and BUB1. Since evidences of a decrease in the level of BUB1 and MAD2 proteins in clinical samples of spontaneous miscarriages and the probable role of MAD2L1 last exons deletions in fibroblasts of the patients with a history of trisomic abortion, we investigated MAD2L1 gene variations in products of conception (POCs) with aneuploidy. Materials and Methods: To detect aneuploidy, POC of moth-ers younger than 36 years were analyzed using quantitative fluorescence polymerase chain reaction (QF-PCR) and/or ar-ray comparative genomic hybridization (aCGH). Those with aneuploidy were enrolled in genotyping. MAD2L1 exons were genotyped using PCR and Sanger sequencing. Frequency of the observed single nucleotide variations (SNVs) were compared with the highest population minor allele frequency (MAF) us-ing Chi Square.Results: According to QF-PCR and aCGH results, 38 ane-uploid samples were enrolled in genotyping. We observed rs903147, rs2908989, rs758373815, rs752146697, rs78047690 and rs2908990 SNVs with following allele frequencies and P values of comparison with the highest population MAF: C:0.64/A:0.36 (P=0.0184), A:0.46/G:0.54 (P=0.0265), T:0.99/G:0.01 (P=0.7613), G:0.96/A:0.04 (P=0.0083), G:0.97/A:0.03 (P=0.1410), A:0.54/G:0.46 (P=0.4913), respec-tively.Conclusion: Frequencies of rs903147, rs2908989 and rs752146697 SNVs were significantly higher than the highest population MAF. These SNVs seem to be associated with ane-uploidy in POC.
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Authors
N Hosseini
Department of Molecular Genetics, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedici
R Kariminejad
Department of Gytogenetics, Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
A Amiri-Yekta
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
A Kariminejad
Department of Gytogenetics, Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran