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. 1995 Dec;57(6):1377–1383.

Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.

M Männikkö 1, M Kestailä 1, C Holmberg 1, R Norio 1, M Ryynänen 1, A Olsen 1, L Peltonen 1, K Tryggvason 1
PMCID: PMC1801413  PMID: 8533767

Abstract

We have recently localized the gene for congenital nephrotic syndrome of the Finnish type (CNF) to chromosome 19q12-13.1. On the basis of observed recombination events, the gene was localized between markers D19S416/D19S425/D19S213/D19S208/D19S191 and D19S224. Here we have extended the mapping efforts, on the basis of a detailed physical map of the region. By means of three new polymorphic markers--D19S608, D19S609, and D19S610--developed in this study, the critical candidate region could be further restricted. Significant linkage disequilibrium was observed with markers D19S610, D19S608, D19S224, and D19S220, the strongest allelic association being 84% with marker D19S610 at 19q13.1. This suggests that the CNF gene locus lies in close proximity to marker D19S610. Combination of the informative markers revealed four main haplotype categories. Different geographic distribution was observed between these haplotype groups when they were placed on the map of finland according to the birthplaces of grandparents.

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Selected References

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  1. Brandriff B. F., Gordon L. A., Fertitta A., Olsen A. S., Christensen M., Ashworth L. K., Nelson D. O., Carrano A. V., Mohrenweiser H. W. Human chromosome 19p: a fluorescence in situ hybridization map with genomic distance estimates for 79 intervals spanning 20 Mb. Genomics. 1994 Oct;23(3):582–591. doi: 10.1006/geno.1994.1546. [DOI] [PubMed] [Google Scholar]
  2. Browne D. L., Litt M. Characterization of (CA)n microsatellites with degenerate sequencing primers. Nucleic Acids Res. 1992 Jan 11;20(1):141–141. doi: 10.1093/nar/20.1.141. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Canfield V. A., Okamoto C. T., Chow D., Dorfman J., Gros P., Forte J. G., Levenson R. Cloning of the H,K-ATPase beta subunit. Tissue-specific expression, chromosomal assignment, and relationship to Na,K-ATPase beta subunits. J Biol Chem. 1990 Nov 15;265(32):19878–19884. [PubMed] [Google Scholar]
  4. Carrero-Valenzuela R. D., Quan F., Lightowlers R., Kennaway N. G., Litt M., Forte M. Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family. Gene. 1991 Jun 30;102(2):229–236. doi: 10.1016/0378-1119(91)90082-m. [DOI] [PubMed] [Google Scholar]
  5. DiMauro S., Mendell J. R., Sahenk Z., Bachman D., Scarpa A., Scofield R. M., Reiner C. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology. 1980 Aug;30(8):795–804. doi: 10.1212/wnl.30.8.795. [DOI] [PubMed] [Google Scholar]
  6. Holmberg C., Antikainen M., Rönnholm K., Ala Houhala M., Jalanko H. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol. 1995 Feb;9(1):87–93. doi: 10.1007/BF00858984. [DOI] [PubMed] [Google Scholar]
  7. Holmberg C., Jalanko H., Koskimies O., Leijala M., Salmela K., Eklund B., Ahonen J. Renal transplantation in small children with congenital nephrotic syndrome of the Finnish type. Transplant Proc. 1991 Feb;23(1 Pt 2):1378–1379. [PubMed] [Google Scholar]
  8. Huttunen N. P. Congenital nephrotic syndrome of Finnish type. Study of 75 patients. Arch Dis Child. 1976 May;51(5):344–348. doi: 10.1136/adc.51.5.344. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Hästbacka J., de la Chapelle A., Kaitila I., Sistonen P., Weaver A., Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992 Nov;2(3):204–211. doi: 10.1038/ng1192-204. [DOI] [PubMed] [Google Scholar]
  10. Hästbacka J., de la Chapelle A., Mahtani M. M., Clines G., Reeve-Daly M. P., Daly M., Hamilton B. A., Kusumi K., Trivedi B., Weaver A. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994 Sep 23;78(6):1073–1087. doi: 10.1016/0092-8674(94)90281-x. [DOI] [PubMed] [Google Scholar]
  11. Iles D. E., Segers B., de Jong P., Alleman J., Wieringa B. Dinucleotide repeat polymorphism at the D19S191 locus. Nucleic Acids Res. 1992 Mar 11;20(5):1170–1170. [PMC free article] [PubMed] [Google Scholar]
  12. Kestilä M., Männikkö M., Holmberg C., Gyapay G., Weissenbach J., Savolainen E. R., Peltonen L., Tryggvason K. Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet. 1994 May;54(5):757–764. [PMC free article] [PubMed] [Google Scholar]
  13. Kestilä M., Männikkö M., Holmberg C., Korpela K., Savolainen E. R., Peltonen L., Tryggvason K. Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type. Kidney Int. 1994 Apr;45(4):986–990. doi: 10.1038/ki.1994.133. [DOI] [PubMed] [Google Scholar]
  14. Kestilä M., Männikkö M., Holmberg C., Tryggvason K., Peltonen L. Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model. Genomics. 1994 Feb;19(3):570–572. doi: 10.1006/geno.1994.1109. [DOI] [PubMed] [Google Scholar]
  15. Laine J., Jalanko H., Holthöfer H., Krogerus L., Rapola J., von Willebrand E., Lautenschlager I., Salmela K., Holmberg C. Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. Kidney Int. 1993 Oct;44(4):867–874. doi: 10.1038/ki.1993.324. [DOI] [PubMed] [Google Scholar]
  16. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Lehesjoki A. E., Koskiniemi M., Norio R., Tirrito S., Sistonen P., Lander E., de la Chapelle A. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet. 1993 Aug;2(8):1229–1234. doi: 10.1093/hmg/2.8.1229. [DOI] [PubMed] [Google Scholar]
  18. Nikali K., Suomalainen A., Terwilliger J., Koskinen T., Weissenbach J., Peltonen L. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet. 1995 May;56(5):1088–1095. [PMC free article] [PubMed] [Google Scholar]
  19. Rapola J. Congenital nephrotic syndrome. Pediatr Nephrol. 1987 Jul;1(3):441–446. doi: 10.1007/BF00849252. [DOI] [PubMed] [Google Scholar]
  20. Sato S., Fujita N., Kurihara T., Kuwano R., Sakimura K., Takahashi Y., Miyatake T. cDNA cloning and amino acid sequence for human myelin-associated glycoprotein. Biochem Biophys Res Commun. 1989 Sep 29;163(3):1473–1480. doi: 10.1016/0006-291x(89)91145-5. [DOI] [PubMed] [Google Scholar]
  21. Savukoski M., Kestilä M., Williams R., Järvelä I., Sharp J., Harris J., Santavuori P., Gardiner M., Peltonen L. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am J Hum Genet. 1994 Oct;55(4):695–701. [PMC free article] [PubMed] [Google Scholar]
  22. Shibata D. K., Arnheim N., Martin W. J. Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction. J Exp Med. 1988 Jan 1;167(1):225–230. doi: 10.1084/jem.167.1.225. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Song I., Yamada T., Trent J. M. Mapping of the gene encoding the alpha-subunit of the human H+,K(+)-ATPase to chromosome 19q13.1 by fluorescent in situ hybridization. Genomics. 1992 Oct;14(2):547–548. doi: 10.1016/s0888-7543(05)80266-6. [DOI] [PubMed] [Google Scholar]
  24. Spagnol G., Williams M., Srinivasan J., Golier J., Bauer D., Lebo R. V., Latov N. Molecular cloning of human myelin-associated glycoprotein. J Neurosci Res. 1989 Oct;24(2):137–142. doi: 10.1002/jnr.490240203. [DOI] [PubMed] [Google Scholar]
  25. Sulisalo T., Klockars J., Mäkitie O., Francomano C. A., de la Chapelle A., Kaitila I., Sistonen P. High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am J Hum Genet. 1994 Nov;55(5):937–945. [PMC free article] [PubMed] [Google Scholar]
  26. Taanman J. W., van der Veen A. Y., Schrage C., de Vries H., Buys C. H. Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation. Hum Genet. 1991 Jul;87(3):325–327. doi: 10.1007/BF00200913. [DOI] [PubMed] [Google Scholar]
  27. Terwilliger J. D. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet. 1995 Mar;56(3):777–787. [PMC free article] [PubMed] [Google Scholar]
  28. Vernier R. L., Klein D. J., Sisson S. P., Mahan J. D., Oegema T. R., Brown D. M. Heparan sulfate--rich anionic sites in the human glomerular basement membrane. Decreased concentration in congenital nephrotic syndrome. N Engl J Med. 1983 Oct 27;309(17):1001–1009. doi: 10.1056/NEJM198310273091701. [DOI] [PubMed] [Google Scholar]
  29. Wasco W., Brook J. D., Tanzi R. E. The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19. Genomics. 1993 Jan;15(1):237–239. doi: 10.1006/geno.1993.1047. [DOI] [PubMed] [Google Scholar]
  30. Wasco W., Bupp K., Magendantz M., Gusella J. F., Tanzi R. E., Solomon F. Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor. Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10758–10762. doi: 10.1073/pnas.89.22.10758. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Weber J. L., Wang Z., Hansen K., Stephenson M., Kappel C., Salzman S., Wilkie P. J., Keats B., Dracopoli N. C., Brandriff B. F. Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19. Am J Hum Genet. 1993 Nov;53(5):1079–1095. [PMC free article] [PubMed] [Google Scholar]
  32. de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet. 1993 Oct;30(10):857–865. doi: 10.1136/jmg.30.10.857. [DOI] [PMC free article] [PubMed] [Google Scholar]

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