Animal cells and systems

  • 제10권2호
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  • Pages.65-71
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  • 2006
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  • 1976-8354(pISSN)
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  • 2151-2485(eISSN)
한국통합생물학회 (The Korean Society for Integrative Biology)
권호 표지

Characterization of Microsatellite Markers Closely Linked with PKD Loci in the Korean Population

  • Kim, Un-Kyung (Department of Biology, College of Natural Sciences, Kyungpook National University) ;
  • Lee, Kyu-Beck (Department of Internal Medicine, Kangbuck Samsung Hospital, School of Medicine, Sungkyunkwan University)
  • 발행 : 2006.06.30
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초록

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited renal disorders in the world. Mutations in PKD1 located on chromosome 16p13.3 are responsible for 85% of all the ADPKD patients whereas mutations in PKD2 on chromosome 4q21-23 are responsible for the rest of the cases. Genetic heterogeneity and the problems of mutation detection in PKD1 suggest that linkage analysis is an important approach to study the genetics of ADPKD. To evaluate the availability of six (CA)n microsatellite markers for the linkage analysis of ADPKD in the Korean population, we examined the allele frequencies and heterozygosities of the markers. With the exception of KG8, five markers were highly informative, with PIC values over 0.5, but the PIC value of KG8 marker was less informative than other five markers because of the low number of alleles. Therefore, this study will be useful in linkage analysis for ADPKD families in the Korean population.

키워드

참고문헌

  1. Bear JC, Parfrey PS, Morgan JM, Martin CJ, and Cramer BC (1992) Autosomal dominant polycystic kidney disease: new information for genetic counselling. Am J Med Genet 43: 548-553 https://doi.org/10.1002/ajmg.1320430309
  2. Bostein D, White RL, Skolnick M, and Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32: 314-331
  3. Breuning MH, Snijdewint FGM, Brunner H, Verwest A, Ijdo JW, Saris JJ, Dauwerse JG, Blonden L, Keith T, Callen DF, Hyland VJ, Xiao GH, Scherer G, Higgs DR, Harris P, Bachner L, Reeders ST, Germino G, Pearson PL, and van Ommen GJB (1990) Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKDl). J Med Genet 27: 603-613 https://doi.org/10.1136/jmg.27.10.603
  4. Daoust MC, Reynolds DM, Bichet DG, and Somlo S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25: 733-736 https://doi.org/10.1016/0888-7543(95)80020-M
  5. de Almeida S, de Ahneida E, Peters DJM, Pinto JR, Tavom I, Lavinha J, Breuning MH, and Prata MM (1995) Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 96: 83-88 https://doi.org/10.1007/BF00214191
  6. European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14-kb transcript and lies within a duplicated region on chromosome 16. Cell 77: 881-894 https://doi.org/10.1016/0092-8674(94)90137-6
  7. Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, lezotte DC, Duley IT, and Jones RH (1992) Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 41: 1311-1319 https://doi.org/10.1038/ki.1992.195
  8. Germino GG, Barton NJ, Lamb J, Higgs DR, Harris P, Xiao GH, Scherer G, Nakamura Y, and Reeders ST (1990) Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet 46: 925-933
  9. Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GAJ, Somlo S, Wirth B, Barton N, Harris KL, Frischauf AM, and Reeders ST (1992) The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 13: 144-151 https://doi.org/10.1016/0888-7543(92)90214-D
  10. Harris PC, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, and Lopez-Larrea C (1991) Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 338: 1484-1487 https://doi.org/10.1016/0140-6736(91)92300-Q
  11. Hyland VJ, Suther GK, Friend K, MacKinnon RN, Callen DF, Breuning MH, Keith T, Brown VA, Phipps P, and Sutherland GR (1990) Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1.Hum Genet 84: 286-288 https://doi.org/10.1007/BF00200577
  12. Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E, Gabow PA (1988) Linkage heterogeneity of autosomal dominant polycystic kidney disease. New Eng J Med 319: 913-918 https://doi.org/10.1056/NEJM198810063191405
  13. Lahiri DK, and Nurnberger JI (1991) A rapid non-enzymatic method for the preparation of DNA from blood for RFLP studies. Nucleic Acids Res 19: 544 https://doi.org/10.1093/nar/19.19.5444
  14. Mochizuki T, Wu G; Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Constantinou Deltas CD, Peters DJM, and Somlo S (1996) PKD2, a gene for polycystic kidney disease that encodes an integml membrane protein. Science 272: 1339-1342 https://doi.org/10.1126/science.272.5266.1339
  15. Norby S, Sorensen AW, and Boesen P (1989) Non-allelic genetic heterogeneity of autosomal dominant polycystic kidney disease? Prog Clin Biol Res 305: 83-88
  16. Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Churchill DN, Singh M, Hewitt R, Somlo S, and Reeders ST (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease. New Eng J Med 323: 1085-1090 https://doi.org/10.1056/NEJM199010183231601
  17. Peters DJM, and Sandkuijl LA (1992) Polycystic Kidney Disease. In: Breuning MH, Devoto M, and Romeo G (eds). Contributions to Nephrology 97. Karger, Bawel, pp. 128-139
  18. Peral B, Ward CJ, Millan JLS, Thomas S, Stallings RL, Moreno F, and Harris PC (1994) Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet 154: 899-908
  19. Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffied LJ, Kincaid-Smith P, and Danks DM (1992) Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340: 1330-1333 https://doi.org/10.1016/0140-6736(92)92503-8
  20. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, and Danks DM (1994) Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 343: 824-827 https://doi.org/10.1016/S0140-6736(94)92026-5
  21. Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearso PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317: 542-544 https://doi.org/10.1038/317542a0
  22. Risch N (1990) Linkage strategies for genetically complex traits. III: The effect of marker polymorphism on analysis of affected relative pairs. Am J Hum Genet 46: 242-253
  23. Romeo G, Devoto M, Costa G, Roncuzzi L, Catizone L, Zucchelli P, Germino GO, Keith T, Weatherall DJ, and Reeders ST (1988) A second genetic locus for autosomal dominant polycystic kidney disease. Lancet 335: 8-11 https://doi.org/10.1016/S0140-6736(88)92943-1
  24. Saiki RK, Walsh PS, Levenson CH, and Erlich HA (1989) Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 86: 6230-6234 https://doi.org/10.1073/pnas.86.16.6230
  25. Somlo S, Wirth B, Germino GG, Weinstat-Saslow D, Gillespie GAJ, Himmelbauer H, Steevens L, Coucke P, Willems P, Bachner L, Coto E, Lopez-Larrea C, Peral B, San Millan JL, Saris JJ, Breuning MH, Frischauf AM, and Reeders ST (1992) Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers. Genomics 13: 152-158 https://doi.org/10.1016/0888-7543(92)90215-E
  26. Weissenbach J, Gyapay G; Dib C, Vignal A, morissette J, Millasseau P, Vaysseix G; and Lathrop M (1992) A second-generation linkage map of the human genome. Nature 359: 794-801 https://doi.org/10.1038/359794a0
  27. Wolff E, Nakamura Y, O'Connell P, Leppert M, Lathrop GM, Lalouel JM, and White R (1988) Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]. Nucleic Acids Res 16: 9885 https://doi.org/10.1093/nar/16.20.9885