Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease

Clinical Genetics

Volumn 62, Issue 2, 2002, Pages 169-174

  Eo, H S ^a   Lee, Jung Geon ^b   Ahn, C ^a   Cho, J T ^c   Hwang, D Y ^a   Hwang, Y H ^a   Lee, E J ^a   Kim, Y S ^a   Han, J S ^a   Kim, S ^a   Lee, J S ^a   Jeoung, D I ^a   Lee, S E ^a   Kim, U K ^a  

^a Seoul National University   (South Korea)

^b Eulji University School of Medicine   (South Korea)

^c Dankook University   (South Korea)

Author keywords

ADPKD; Asian; Korean; Mutation; PKD1 gene; Single copy region

Indexed keywords

AMINO ACID; GENOMIC DNA; NUCLEOTIDE; POLYCYSTIN; PRIMER DNA;

ADULT; AGED; AMINO ACID SUBSTITUTION; CONTROLLED STUDY; DATA ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEGREGATION; GENETIC PREDISPOSITION; HUMAN; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; KOREA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; SHORT SURVEY; SINGLE STRAND CONFORMATION POLYMORPHISM;

FEMALE; GENOTYPE; HUMANS; KOREA; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; TRPP CATION CHANNELS;

EID: 0036705780     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620211.x     Document Type: Short Survey

References (26)

1. Gabow PA. Autosomal dominant polycystic kidney disease. New Engl J Med 1993: 329: 332-342.
2. Korean Society of Nephrology Registry Committee. Renal replacement therapy in Korea. Korean J Nephrol 1999: 18 (Suppl. 4): S343-S367.
3. Parfrey PS, Bear JC, Morgan J et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. New Engl J Med 1990: 323: 1085-1090.
4. Ravine D, Walker RG, Gibson RN et al. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 1992: 340: 1330-1333.
5. Daoust MC, Reynolds DM, Bichet DG, Somlo S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 1995: 25: 733-736.
6. de Almeida S, de Almeida E, Peters DJM et al. Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 1995: 96: 83-88.
7. Hughes J, Ward CJ, Peral B et al. The polycystic kidney disease (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995: 10: 151-160.
8. International Polycystic Kidney Disease Consortium. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 1995: 81: 289-298.
9. Rossetti S, Strmecki L, Gamble V et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet 2001: 68 (1): 46-63.
10. Phakdeekitcharoen B, Watnick TJ, Germino GG. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol 2001: 12 (5): 955-963.
11. Tsuchiya K, Komeda M, Takahashi M et al. Mutational analysis within the 3′ region of the PKD1 gene in Japanese families. Mutat Res 2001: 458 (3-4): 77-84.
12. Ding L, Zhang S, Qiu W et al. Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2002: 17 (1): 75-80.
13. Lee JG, Lee KB, Kim UK et al. Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease: the first Asian report. Clin Genet 2001: 60: 138-144.
14. Kim UK, Jin DK, Ahn C et al. Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. Mutat Res 2000: 432: 39-45.
15. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994: 343: 824-827.
16. Miller S, Dykes D, Polesky H. Simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1987: 16: 1215.
17. Peral B, San Millan JL, Ong ACM et al. Screening the 3-prime region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet 1996: 58: 86-96.
18. Turco AE, Rossetti S, Bresin E, Englisch S, Corra S, Pignatti PF. Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. Hum Mutat 1997: 10: 164-167.
19. The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994: 77: 881-894.
20. Burn TC, Connors TD, Dackowski WR et al. Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease 1 (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 1995: 4: 575-582.
21. Sandford R, Sgotto B, Aparacio S et al. Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Hum Mol Genet 1997: 6: 1483-1489.
22. Cotton RGH, Scriver CR. Proof of disease causing mutation. Hum Mutat 1998: 12: 1-3.
23. Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 1997: 16: 179-183.
24. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci U S A 1997: 94: 6965-6970.
25. Hateboer N, Lazarou LP, Williams AJ, Holmans P, Ravine D. Familial phenotype differences in PKD1. Kidney Int 1999: 56: 34-40.
26. Badenas C, Torra R, San Millan JL et al. Mutational analysis within the 3′ region of the PKD1 gene. Kidney Int 1999: 55: