Genotyping of GATA4 Gene Variant in Congenital Heart Disease Subjects Article Review by Rifkhan

Genotyping of GATA4 Gene Variant in Congenital Heart Disease Subjects
A review of the article, "Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis" by Fawzi et al.
# 153744 | 956 words | 10 sources | APA | 2013 | SA
Published on Dec 03, 2013 in Medical and Health (Medical Studies) , Biology (Genetics)


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Description:

This paper reviews the article, "Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis". The paper discusses the strengths and limitations of this study and looks at the authors' justification of their findings. The paper notes that human and animal model studies contradict the findings of this study, but asserts that their findings are still substantial because there were lots of strengths and very little flaws in the experimental design, and, numerous other studies have also supported their findings. The paper concludes that further research is warranted to examine contradictory findings to this study.

Outline:
Introduction
Strengths and Limitations of Fawzi et al. (2013) [1]
Justification of Findings of Fawzi et al. (2013) [1] by Few Other Peer-Reviewed Research Papers
Conclusion

From the Paper:

"This study had numerous strengths. The study cohort was selected appropriately and included a healthy control group to compare results in affected and non-affected individuals. The major strength was however, the use of the High Resolution Melting Analysis (HRMA) technique. HRMA is a PCR-based method that is fast, simple, cheap, highly sensitive, non-destructive, specific and yields rapid sample turn-around, making it an attractive choice for the detection of disease-associated mutational variants [4]. HRMA takes only few minutes and costs only 11% of the cost of sequencing one exon [4]. However, many sequence-dependent and non-sequence dependent factors (good PCR, dyes) affected HRMA accuracy. Furthermore, another disadvantage of HRMA is that the sensitivity and specificity in an individual clinical diagnostic setting are variable [4, 9]. In the meta-analyses of Li et al. (2011) [4] there were some selection and publication biases involved in selecting articles, but these did not significantly affect the findings."

Sample of Sources Used:

  • Fawzi, N, Vasudevan, R, Ismail, P, Alwi, M, Aziz, AFA, Almeamar, H, Mohamad, NA & Etemad, A 2013, 'Genotyping of GATA4 gene variant (G296S) in Malaysian congenital heart disease subjects by real-time PCR high resolution melting analysis', Journal of Medical Biochemistry, vol. 32, pp. 1-6.
  • Garg, V, Kathiriya, IS, Barnes, R, Schluterman, MK, King, IN, Butler, CA, Rothrock, CR, Eapen, RS, Hirayama-Yamada, K, Joo, K, Matsuoka, R, Cohen, JC & Srivastava, D 2003, 'GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5', Nature, vol. 424, pp. 443-447.
  • Hinton Jr., RB, Yutzey, KE & Benson, DW 2005, 'Congenital heart disease: Genetic causes and developmental insights', Progress in Pediatric Cardiology, vol. 20, no. 2, pp. 101-111.
  • Li, BS, Wang, XY, Ma, FL, Jiang, B, Song, XX & Xu, AG 2011, 'Is High Resolution Melting Analysis (HRMA) accurate for detection of human disease-associated mutations? A meta-analysis', PLoS ONE, vol. 6, no. 12, e28078.
  • Misra, C, Sachan, N, McNally, CR, Koenig, SN, Nichols, HA, Guggilam, A, Lucchesi, PA, Pu, WT, Srivastava, D & Garg, V 2012, 'Congenital heart disease-causing gata4 mutation displays functional deficits in vivo', PLoS Genetics, vol. 8, no. 5, e1002690.

Cite this Article Review:

APA Format

Genotyping of GATA4 Gene Variant in Congenital Heart Disease Subjects (2013, December 03) Retrieved July 19, 2019, from https://www.academon.com/article-review/genotyping-of-gata4-gene-variant-in-congenital-heart-disease-subjects-153744/

MLA Format

"Genotyping of GATA4 Gene Variant in Congenital Heart Disease Subjects" 03 December 2013. Web. 19 July. 2019. <https://www.academon.com/article-review/genotyping-of-gata4-gene-variant-in-congenital-heart-disease-subjects-153744/>

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