Abstract
The rapid development of new techniques in molecular biology is leading to identification of the genes responsible for a wide variety of diseases. Several renal conditions are caused by gene defects and are amenable to this approach. The process of gene mapping is discussed and the current position regarding prenatal diagnosis and carrier testing for genetic renal disease is reviewed.
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Weatherall DJ (1985) The new genetics and clinical practice, 2nd edn. Oxford University Press, Oxford p 1
Rodeck CH, Morsman JM (1983) First-trimester chorion biopsy. Br Med Bull 39:338–342
Kan YW, Dozy AM (1978) Antenatal diagnosis of sickle cell anaemia by DNA analysis of amniotic-fluid cells. Lancet II:910–911
Old JM, Ward RHT, Petrou M, Karagozlu F, Modell, B, Weatherall DJ (1982) First trimester fetal diagnosis of haemoglobinopathies: three cases. Lancet II:1413–1416
Schmidtke J, Cooper DN (1987) A comprehensive list of cloned human DNA sequences. Nucleic Acids Res 15 [Suppl]: R1–230
Pembrey M (1987) Impact of molecular biology on clinical genetics. Br med J 295: 711–713
Kunkel LM, Smith KD, Boyer SH, Borgaonkar OS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM (1977) Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74: 1245–1249
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98: 503–517
Feinberg AP, Vogelstein B (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132: 6–13
Chang JC, Kan YW (1982) A sensitive new prenatal test for sickle cell anaemia. N Engl J Med 307: 30–32
Thein SL, Winscoat JS, Lynch JR, Weatherall DJ, Sampietro M, Fiorelli G (1985) Direct detection of β39 thalassaemic mutation with Mae I. Lancet I: 1095–1097
Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317: 542–544
Danovitch GM (1976) Clinical features and pathophysiology of polycystic kidney disease in man. In: Gardner KD (ed) Cystic disease of the kidney. Wiley, New York, pp 125–150
Dalgaard OZ (1957) Bilateral polycystic disease of the kidneys. Acta Med Scand 158 [Suppl 328]: 1–256
Zerres K, Völpel M-C, Weiss H (1984) Cystic kidneys: genetics, pathologic anatomy, clinical picture and prenatal diagnosis. Hum Genet 68: 104–135
Lowrie EG, Hampers CL (1981) The success of Medicare's end-stage renal disease program: the case for profits and the private marketplace. N Engl J Med 305: 434–438
Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH, Churchill ON (1984) Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease — data for genetic counselling. Am J Med Genet 18: 45–53
Reeders ST, Breuning MH, Corney G, Jeremiah SJ, Meera Khan P, Davies KE, Hopkinson DA, Pearson PL, Weatherall DJ (1986) Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J 292: 851–853
Higgs DR, Goodbourn SEY, Wainscoat JS, Clegg JB, Weatherall DJ (1981) Highly variable regions of DNA flank the human α-globin genes. Nucleic Acids Res 9: 4213–4224
Nicholls RD, Hill AVS, Clegg JB, Higgs DR (1985) Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment. Nucleic Acids Res 13: 7569–7578
Barker RF, Hopkinson DA (1978) Genetic polymorphism of human phosphoglycolate phosphatase (PGP). Ann Hum Genet 42: 143–151
Reeders ST, Zerres K, Gal A, Hogenkamp T, Propping P, Schmidt W, Waldherr R, Dolata MM, Davies KE, Weatherall DJ (1986) Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet II: 6–8
Breuning MH, Reeders ST, Brunner H, Ijdo JW, Saris JJ, Verwest A, Ommen GJB van, Pearson PL (1987) Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet II: 1359–1361
Dickinson WH (1875) Diseases of the kidney characterised by albuminuria. In: Allbut TC (ed) A system of medicine. Macmillan, New York, p 352
Alport AC (1927) Hereditary familial congenital haemorrhagic nephritis. Br Med J I: 504–506
Guthrie LG (1902) “Idiopathic” or congenital hereditary and family haematuria. Lancet I: 1243–1246
Kendall G, Hertz AF (1912) Hereditary familial congenital haemorrhagic nephritis. Guy's Hosp Rep 66: 137–141
Hurst AF (1923) Hereditary familial congenital haemorrhagic nephritis occurring in sixteen individuals in three generations. Guy's Hosp Rep 73: 368–370
Graham JB (1959) Hereditary chronic kidney disease: an alternative to partial sex-linkage in the Utah kindred. Am J Hum Genet 11: 333–338
Flinter FA, Bobrow M, Chantler C (1987) Alport's syndrome or hereditary nephritis? Pediatr Nephrol 1: 438–440
Sohar E (1954) A heredo-familial syndrome characterised by renal disease, inner ear deafness and ocular changes. Harefuah 27: 161
Govan JAA (1983) Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 67: 493–503
Menlove L, Kirschner H, Nguyen K, Morrison T, Aldridge J, Schwartz C, Atkin C, Hasstedt S, Kunkel L, Bruns G, Latt S, Skolnick M (1985) Linkage between Alport's syndrome-like hereditary nephritis and X-linked RFLPs. Cytogenet Cell Genet 40: 697–698
Brunner H, Bennekom C van, Lambermon E, Tuerlings J, Oei T, Cremers CWRJ, Schröder C, Menzel D, Ropers HH (1986) Regional localization of Alport hereditary nephritis and X-linked deafness with stapes fixation on Xq. 7th Int Congress Hum Genet Abstr II: 629
Grunfeld JP (1985) The clinical spectrum of hereditary nephritis. Kidney Int 27: 83–92
Berry AC, Chantler C (1986) Urogenital malformations and disease. Br Med Bull 42: 181–186
Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 5: 109–141
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Flinter, F.A., Bobrow, M. The application of molecular biology to the prenatal diagnosis of renal disease. Pediatr Nephrol 2, 343–350 (1988). https://doi.org/10.1007/BF00858691
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DOI: https://doi.org/10.1007/BF00858691