Molecular genetic diagnosis and clinical applications in medicine


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Authors

  • Sacide Pehlivan Gaziantep Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji ve Genetik Anabilim Dalı

DOI:

https://doi.org/10.58600/eurjther.2007-13-1-1404-arch

Keywords:

Human, Molecular Genetic Diagnosis, Inherited Disease, DNA, PCR

Abstract

There has been an amazing increase in our acquiring genetic information by means of the technological developments and the completion of the human genome project in a shorter time than expected. Within the light of this information, there has been a great change in approaching human health and diseases. Having developed rapidly within the last 20 years, the new genetic technology provides many opportunities of test for the prevention, diagnosis and treatment of diseases. Today it is known that there are 900 to 1000 genetic tests used in routine diagnosis. Clinicians should learn this new technology and approach in a very short period of time and use them for the benefit of their patients. Molecular Genetic Diagnosis and Clinical Applications in Medicine will be reviewed in this collection.

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References

Alberts B, Bray D, Lewis J, et al. Molecular biology of the cell. Fourth Ed. Newyork. Garland Publishing Inc. 2000.

Ozkinay F. Moleküler Genetik Tanı. Ders Notları, EgeÜniversitesi, 2006.

Griffiths AJF, Gelbart WM, Miller JH, Lewontin RC. Modern Genetic Analysis.New York:; c1999.

Marical H, Douet-Guilbert N, Bages K, et al. Second- trimester prenatal screening for trisomy 21 using biochemical markers: a 7-year experience in one cytogenetic laboratory. Prenat Diagn 2006; 26: 308-312.

Molecular cytogenetic characteristics of Down syndrome newborns. J Hum Genet 2006; 51: 541-547.

Musti M, Kettunen E, Dragonieri S, et al. Cytogenetic and molecular genetic changes in malignant mesothelioma. Cancer Genet Cytogenet 2006; 170: 9-15.

Natrajan R, Little S, Sodha N, et al. Analysis by array CGH of genomic changes associated with the progression or relapse of Wilms' tumour. J Pathol 2006; 13: [Epub ahead of print].

Zdebska E, Krawcewicz A, Adamowicz-Salach A, et al. Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia. Pol Merkur Lekarski 2006; 20: 53-56.

Baig SM, Azhar A, Hassan H, et al. Spectrum of beta- thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.Haematologica 2006; 91: ELT02.

Allen SK, Luharia A, Gould CP, et al. Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS. Prenat Diagn 2006; [Epub ahead of print].

Zhao J, Ji JZ, Wang DW, et al. Detecting of mtDNA mutations at position A3243G and G3316A in patients with type 2 diabetes mellitus in Wenzhou. Yi Chuan 2006; 28: 1206-1212.

Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors. Arch Med Res 2006; 37: 1028-1033.

Schultz KR, Pullen DJ, Sather HN, et al. Risk and response-based classification of childhood B-precursor acute lymphoblastic leukemia: a combined analysis of prognostic markers from the Pediatric Oncology Group (POG) and Children's Cancer Group (CCG). Blood 2006; 26; [Epub ahead of print].

Tubbs RR, Pettay J, Barry TS, et al. The specificity of interphase FISH translocation probes in formalin fixed paraffin embedded tissue sections is readily assessed using automated staining and scoring of tissue microarrays constructed from murine xenografts. J Mol Histol 2006; [Epub ahead of print].

Pehlivan S, Koyuncuoglu M, Pehlivan M, et al. Premalignant lesions of the kidney share the same genetics changes as conventional renal cell carcinoma. World J Urol. 2004; 22: 120-123.

Maniatis T, Fritsch EF, Sambrook F, Molecular Cloning a Laboratory Manuel, Cold Spring Harbor Laboratory; USA, 1983.

Strachan T and Andrew P. Human Molecular Genetics 2 2nd ed.New York and London: ; c1999.

Pehlivan S, Ozkinay F, Okutman O, et al. Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. Turk J Pediatr 2003; 45: 99-101.

Erdem H, Pehlivan S, Topaloglu H, et al. Allele distribution of D5S125, MAP1B5' and D5S679 microsatellite markers in Turkish spinal muscular atrophy families.Turk J Pediatr 1997;39:447-452.

Liu QR, Drgon T, Johnson C, et al. Addiction molecular genetics: 639,401 SNP whole genome association identifies many "cell adhesion" genes. Am J Med Genet B Neuropsychiatr Genet 2006; [Epub ahead of print]. Arrays of Hope. Cell 2006; 127:657-659.

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Published

2007-01-01

How to Cite

Pehlivan, S. (2007). Molecular genetic diagnosis and clinical applications in medicine. European Journal of Therapeutics, 13(1), 17–21. https://doi.org/10.58600/eurjther.2007-13-1-1404-arch

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Original Articles