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- W2667688052 abstract "Background: Mitochondrial transfer RNAs (tRNA) genes are essentialcomponents of protein biosynthesis. These genes are hotspots formutations. These mutations are associated with a wide spectrum of humandisease. Many genetic factors are known in assessment of repeatedpregnancy loss (RPL). Objective: The aim of this study was analysis oftRNA Thr and tRNA Pro in women with RPL. Materials and Methods: Thenucleotide variations of threonine and proline were investigated in 96women with idiopathic repeated pregnancy loss. The relatedmitochondrial area was amplified using a polymerase chain reaction(PCR). The PCR products were demonstrated by 2% agarose gelelectrophoresis, and all the positive samples were purified andverified by an automated DNA sequencing method. Results: The sequenceanalysis revealed 4 mutations in tRNA Thr. These mutations were A15907Gin 2 cases (2.08%), A15924G in 3 cases (3.12%), G15928A in 10 cases(10.42%) as the most common mutations and G15930A in 3 cases (3.12%) asa novel mutation. Also, the result of tRNApro sequencing showed theT15972C mutation in 1 woman (1.04%) as a novel mutation. Conclusion:These tRNAs mutations can alter their steady state level and affect thestructure of tRNAs. It results in protein synthesis defects and, inturn, mitochondrial dysfunction. The mutations of these genes may helpin the assessment of RPL. Further study of an expanded series of thesetRNA mutants is recommended to describe their etiologic role inidiopathic RPL." @default.
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- W2667688052 date "2010-04-26" @default.
- W2667688052 modified "2023-09-27" @default.
- W2667688052 title "The point mutations of m itochondrial tRNA threonine and proline inidiopathic repeated pregnancy loss" @default.
- W2667688052 hasPublicationYear "2010" @default.
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