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GEN HARİTALAMA STRATEJİLERİ

Year 2012, Volume: 21 Issue: 1, 50 - 60, 01.03.2012

Abstract

Bireylerin sosyal gelişimlerini negatif yönde etkilemesi ve tüm dünyada yaygın olarak görülmesi, genetik tabanlı sendromların ortaya çıkmasında etkin olan genlerin haritalanması ve tanımlanmasına yönelik yapılan çalışmaları hızlandırmıştır. Genetik haritalama, genomun matematiksel analizi olarak bilinir ve genlerin kromozomlar üzerindeki lokalizasyonlarının yöntemleri ve istatistiksel analizleri kullanır. Bir hastalıktan sorumlu genin saptanmasına yönelik yaklaşımlardan en yaygın olarak kullanılanları, DNA markırlarının hastalıkla ilişkisini test eden bağlantı ve ilişkilendirme çalışmalarıdır. Bağlantı analizi ile aynı kromozom üzerinde birbirine yakın iki yerleşimin anne-babadan çocuğa aktarılırken bir arada geçiş olasılığı hesaplanmaktadır. Bu tip çalışmalar basit Mendelyan geçiş gösteren hastalıkların olmaktadır. İlişkilendirme ise kalıtım kalıbı tam olarak belirlenemeyen hastalıklarda tercih edilen yöntemdir. Bu yöntemle hasta ve kontrol gruplarında belirli bir genetik markıra ilişkin allellerin frekansları karşılaştırılır. Bu haritalama yöntemleriyle hastalık geninin tanımlanması o genin fonksiyonu ile ilgili hücresel mekanizmaların daha iyi anlaşılmasında bize yardımcı olur ve hastalığın oluşumunu kavramamıza olanak sağlar. Hastalık geninin saptanması ayrıca ilaç üretilmesine, doğum öncesi ve sonrası genetik tanıya da olanak sağlayacaktır

References

  • Griffiths G, Anthony JF, Miller M, Jeffrey H, Suzuki, David T, Lewontin RC, and Gelbart WM. An Introduction to Genetic Analysis. (5th Ed.), W.H. Freeman and Company, New York 1993; Chap. 5.
  • Kong X, Murphy K, Raj T, et al. A combined linkage-physical map of the human genome. Am J Hum Genet 2004; 75:1143-1148.
  • History of genetic mapping. Erişim: [http:// medicine.jrank.org/pages/2486/Mapping- History-Genetic-Mapping.html], Erisim Tarihi: 14.10.2010.
  • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994; 2:246-339.
  • Kruglyak L, Daly MJ, Reeve-Daly MP, et al. Parametric and nonparametric linkage analy- sis: A Unified Multipoint Approach. Am J Hum Genet 1996; 58:1347-1363.
  • Ott J. Analysis of Human Genetic Linkage. Johns Hopkins University, Baltimore 1991; pp129-139.
  • Gershon ES, De Lisi LE, Hamovit J, et al. A controlled family study of chronic psyhoses, schizophrenia, and schizoaffective disorder. Arch Gen Psychiatry 1988; 45:328-336.
  • Terwilliger JD and Ott J. Handbook of Human Genetic Linkage. Johns Hopkins University, Baltimore 1994; pp 148.
  • Ott J. Analysis of Human Genetic Linkage (3rd Ed.). The John Hopkins University Press, New York 1999; pp60-64.
  • Leal SM, Müller-Myhsok B, and Nothnagel M. Basic gene mapping linkage analysis course. Max Delbrück Centre for Molecular Medicine, Berlin, Germany 4-8 July 2005; pp15.
  • Dib C, Faure S, Fizames C, et al. Comprehen- sive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380:152-154.
  • Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome. Cell 1987; 51:319-337.
  • Sheffield VC, Weber JL, Buetow KH, et al. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 1995; 4:1837-1844.
  • Korn JM, Kuruvilla FG, McCarroll SA, et al. Integrated genotype calling and association analysis of SNPs, common copy number poly- morphisms and rare CNVs. Nat Genet 2008; 40:1253-1260.
  • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994; 2:246-339.
  • Weissenbach J, Gyapay G, Dib C, et al. Sec- ond generation linkage map of the human ge- nome. Nature 1992; 359:794-801.
  • Kong X, Murphy K, Raj T, et al. A combined linkage-physical map of the human genome. Am J Hum Genet 2004; 75:1143-1148.
  • Broman KW, Murray CJ, Sheffield RL, et al. Comprehensive human genetic maps: Individ- ual and sex-specific variation in recombina- tion. Am J Hum Genet 1998; 63:861-869.
  • Davies JL, Kawaguchi Y, Bennt ST, et al. A genome-wide search for human type I diabetes susceptibility genes. Nature 1994; 371:130- 136.
  • Forshew T and Johnson CA. SCAMP: A spreadsheet to collate autozygosity mapping projects. J Med Genet 2004; 41:125.
  • Woods CG, Valente EM, Bond J, et al. A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EX- CLUDEAR. J Med Genet 2004; 41:101.
  • Akarsu AN, and Lüleci G. Gen haritalaması: Ne demek, haritalar nasıl oluşturuluyor, neler içeriyor, nasıl yorumlanıyor? Dokuz Eylül Tıp Dergisi 2002; (İnsan genomu projesi-özel sayı): 29-39.
  • Lindner TH and Hoffmann K. Manual – easy- LINKAGE Plus v5.05, Germany 2004.
  • North Shore LIJ Research Institute (2006). An alphabetic list of genetic analysis software. Erişim: [http://linkage.rockefeller.edu/soft/], Erisim Tarihi: 14.10.2010.

Gene Mapping Strategies

Year 2012, Volume: 21 Issue: 1, 50 - 60, 01.03.2012

Abstract

Genetically determined syndromes are seen worldwide, and affect the social development of individuals negatively. Studies toward detecting and mapping the genes responsible for the genetically determined syndromes have been accelerated. Genetic mapping known as the mathematical analysis of the genome, utilizes molecular techniques and statistical analyses to localize genes on chromosomes. Linkage and association analyses testing the relationship of DNA markers with diseases are the most widely used methods in determining the responsible genes for the diseases. The possibility of co-transfer of two genes or markers that are in close proximity from parents to offspring is calculated via linkage analysis. This type of studies is helpful in understanding the genetics of diseases that show Mendelian inheritance. Association studies are useful in understanding the diseases whose inheritance patterns are not fully known. With this method, allele frequencies of certain genetic markers in patient and control groups are compared. Identification of a disease causing gene through these mapping methods helps us understand the cellular mechanisms related with the function of the gene and the development of the disease. Identification of the disease causing gene will also help us in potential drug development, pre and postnatal genetical diagnoses

References

  • Griffiths G, Anthony JF, Miller M, Jeffrey H, Suzuki, David T, Lewontin RC, and Gelbart WM. An Introduction to Genetic Analysis. (5th Ed.), W.H. Freeman and Company, New York 1993; Chap. 5.
  • Kong X, Murphy K, Raj T, et al. A combined linkage-physical map of the human genome. Am J Hum Genet 2004; 75:1143-1148.
  • History of genetic mapping. Erişim: [http:// medicine.jrank.org/pages/2486/Mapping- History-Genetic-Mapping.html], Erisim Tarihi: 14.10.2010.
  • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994; 2:246-339.
  • Kruglyak L, Daly MJ, Reeve-Daly MP, et al. Parametric and nonparametric linkage analy- sis: A Unified Multipoint Approach. Am J Hum Genet 1996; 58:1347-1363.
  • Ott J. Analysis of Human Genetic Linkage. Johns Hopkins University, Baltimore 1991; pp129-139.
  • Gershon ES, De Lisi LE, Hamovit J, et al. A controlled family study of chronic psyhoses, schizophrenia, and schizoaffective disorder. Arch Gen Psychiatry 1988; 45:328-336.
  • Terwilliger JD and Ott J. Handbook of Human Genetic Linkage. Johns Hopkins University, Baltimore 1994; pp 148.
  • Ott J. Analysis of Human Genetic Linkage (3rd Ed.). The John Hopkins University Press, New York 1999; pp60-64.
  • Leal SM, Müller-Myhsok B, and Nothnagel M. Basic gene mapping linkage analysis course. Max Delbrück Centre for Molecular Medicine, Berlin, Germany 4-8 July 2005; pp15.
  • Dib C, Faure S, Fizames C, et al. Comprehen- sive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380:152-154.
  • Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome. Cell 1987; 51:319-337.
  • Sheffield VC, Weber JL, Buetow KH, et al. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 1995; 4:1837-1844.
  • Korn JM, Kuruvilla FG, McCarroll SA, et al. Integrated genotype calling and association analysis of SNPs, common copy number poly- morphisms and rare CNVs. Nat Genet 2008; 40:1253-1260.
  • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994; 2:246-339.
  • Weissenbach J, Gyapay G, Dib C, et al. Sec- ond generation linkage map of the human ge- nome. Nature 1992; 359:794-801.
  • Kong X, Murphy K, Raj T, et al. A combined linkage-physical map of the human genome. Am J Hum Genet 2004; 75:1143-1148.
  • Broman KW, Murray CJ, Sheffield RL, et al. Comprehensive human genetic maps: Individ- ual and sex-specific variation in recombina- tion. Am J Hum Genet 1998; 63:861-869.
  • Davies JL, Kawaguchi Y, Bennt ST, et al. A genome-wide search for human type I diabetes susceptibility genes. Nature 1994; 371:130- 136.
  • Forshew T and Johnson CA. SCAMP: A spreadsheet to collate autozygosity mapping projects. J Med Genet 2004; 41:125.
  • Woods CG, Valente EM, Bond J, et al. A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EX- CLUDEAR. J Med Genet 2004; 41:101.
  • Akarsu AN, and Lüleci G. Gen haritalaması: Ne demek, haritalar nasıl oluşturuluyor, neler içeriyor, nasıl yorumlanıyor? Dokuz Eylül Tıp Dergisi 2002; (İnsan genomu projesi-özel sayı): 29-39.
  • Lindner TH and Hoffmann K. Manual – easy- LINKAGE Plus v5.05, Germany 2004.
  • North Shore LIJ Research Institute (2006). An alphabetic list of genetic analysis software. Erişim: [http://linkage.rockefeller.edu/soft/], Erisim Tarihi: 14.10.2010.
There are 24 citations in total.

Details

Other ID JA36ZH53RR
Journal Section Collection
Authors

Seda ÖRENAY Boyacıoğlu This is me

Munis Dündar This is me

Publication Date March 1, 2012
Submission Date March 1, 2012
Published in Issue Year 2012 Volume: 21 Issue: 1

Cite

APA Boyacıoğlu, S. Ö., & Dündar, M. (2012). GEN HARİTALAMA STRATEJİLERİ. Sağlık Bilimleri Dergisi, 21(1), 50-60.
AMA Boyacıoğlu SÖ, Dündar M. GEN HARİTALAMA STRATEJİLERİ. JHS. March 2012;21(1):50-60.
Chicago Boyacıoğlu, Seda ÖRENAY, and Munis Dündar. “GEN HARİTALAMA STRATEJİLERİ”. Sağlık Bilimleri Dergisi 21, no. 1 (March 2012): 50-60.
EndNote Boyacıoğlu SÖ, Dündar M (March 1, 2012) GEN HARİTALAMA STRATEJİLERİ. Sağlık Bilimleri Dergisi 21 1 50–60.
IEEE S. Ö. Boyacıoğlu and M. Dündar, “GEN HARİTALAMA STRATEJİLERİ”, JHS, vol. 21, no. 1, pp. 50–60, 2012.
ISNAD Boyacıoğlu, Seda ÖRENAY - Dündar, Munis. “GEN HARİTALAMA STRATEJİLERİ”. Sağlık Bilimleri Dergisi 21/1 (March 2012), 50-60.
JAMA Boyacıoğlu SÖ, Dündar M. GEN HARİTALAMA STRATEJİLERİ. JHS. 2012;21:50–60.
MLA Boyacıoğlu, Seda ÖRENAY and Munis Dündar. “GEN HARİTALAMA STRATEJİLERİ”. Sağlık Bilimleri Dergisi, vol. 21, no. 1, 2012, pp. 50-60.
Vancouver Boyacıoğlu SÖ, Dündar M. GEN HARİTALAMA STRATEJİLERİ. JHS. 2012;21(1):50-6.