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  2. Volume 7, Issue 10
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Online ISSN: 2515-8260

Volume7, Issue10

Detection of Turner Syndrome by Quantitative real time PCR of VAMP7 Genes

    Abhay Kumar Yadav, Manpreet Kaur, Ashish , Nitish Kumar Singh Royana Singh

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 10, Pages 2930-2935

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Abstract

Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis is very important to appropriately monitor the comorbidities. The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities. According to our results, the most useful markers for these chromosomal variants were the genes found in the pseudoatomic regions 1 and 2 (PAR1 and PAR2), because differences in gene dosage (relative quantification) between groups were more evident in VAMP7 gene expression. Therefore, we conclude that these markers are useful for early detection in aneuploidies involving sex chromosomes.
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(2021). Detection of Turner Syndrome by Quantitative real time PCR of VAMP7 Genes. European Journal of Molecular & Clinical Medicine, 7(10), 2930-2935.
Abhay Kumar Yadav, Manpreet Kaur, Ashish , Nitish Kumar Singh Royana Singh. "Detection of Turner Syndrome by Quantitative real time PCR of VAMP7 Genes". European Journal of Molecular & Clinical Medicine, 7, 10, 2021, 2930-2935.
(2021). 'Detection of Turner Syndrome by Quantitative real time PCR of VAMP7 Genes', European Journal of Molecular & Clinical Medicine, 7(10), pp. 2930-2935.
Detection of Turner Syndrome by Quantitative real time PCR of VAMP7 Genes. European Journal of Molecular & Clinical Medicine, 2021; 7(10): 2930-2935.
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