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

    Author

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

    India

,

Document Type : Research Article

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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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European Journal of Molecular & Clinical Medicine
Volume 7, Issue 10
December 2020
Page 2930-2935
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  • PDF Download: 335

APA

Royana Singh, A. K. Y. M. K. A. ,. N. K. S. (2021). Detection of Turner Syndrome by Quantitative real time PCR of VAMP7 Genes. European Journal of Molecular & Clinical Medicine, 7(10), 2930-2935.

MLA

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.

HARVARD

Royana Singh, A. K. Y. M. K. A. ,. N. K. S. (2021). 'Detection of Turner Syndrome by Quantitative real time PCR of VAMP7 Genes', European Journal of Molecular & Clinical Medicine, 7(10), pp. 2930-2935.

VANCOUVER

Royana Singh, A. K. Y. M. K. A. ,. N. K. S. 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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