Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor α/δ gene cluster on chromosome site 14q11

Hereditas

Volumn 130, Issue 1, 1999, Pages 19-24

  Lauteala, Tuija ^a   Mykkänen, Juha ^a   Horelli Kuitunen, Nina ^b   Aaltonen, Johanna ^c   Paavola, Paulina ^c   Savontaus, Marja Liisa ^a   Simell, Olli ^a   Aula, Pertti ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

T LYMPHOCYTE RECEPTOR;

ARTICLE; BASOLATERAL MEMBRANE; CHROMOSOME 14Q; CONTROLLED STUDY; DNA DETERMINATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; HUMAN; HUMAN CELL; KIDNEY TUBULE EPITHELIUM; NUCLEOTIDE SEQUENCE; PROTEIN INTOLERANCE; RECEPTOR GENE; RECESSIVE INHERITANCE; T LYMPHOCYTE RECEPTOR GENE;

EID: 0345712422     PISSN: 00180661     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1601-5223.1999.00019.x     Document Type: Article

References (20)

1. Barrios L, Miro R, Caballin MR, Fuster C, Guedea F, Subias A and Egozcue J, (1989). Cytogenetic effects of radiotherapy; breakpoint distribution in induced chromosome aberrations. Cancer Genet. Cytogenet. 41: 61-70.
2. Boehnke M, Lange K and Cox DR, (1991). Statistical methods for multipoint radiation hybrid mapping. Am. J. Hum. Genet. 49: 1174-1188.
3. Boysen C, Simon M and Hood L, (1997). Analysis of the 1.1-Mb human α/δ T-cell receptor locus with bacterial artificial chromosome clones. Genome Res. 7: 330-338.
4. Craig J and Bickmore W, (1993). Chromosome bands -flavours to savour. BioEssays 15: 349-354.
5. Cornelis F, Hashimoto L, Loveridge J, MacCarthy A, Buckle V, Julier C and Bell J, (1992). Identification of a CA repeat at the TCRA locus using yeast artificial chromosomes: a general method for generating highly polymorphic markers at chosen loci. Genomics 13: 820-825.
6. Desjeux J-F, Rajantie J, Simell O, Dumontier A-M and Perheentupa J, (1980). Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. J. Clin. Invest. 65: 1382-1387.
7. Francke U, Chang E, Comeau K, Geigl E-M, Giacalone J, Li X, Luna J, Moon A, Welch S and Wilgenbus P, (1994). A radiation hybrid map of human chromosome 18. Cytogenet. Cell Genet. 66: 196-213.
8. Gyapay G, Schmitt K, Fizames C, Jones H, Vega-Czarny N, Spillett D, Muselet D, Prud'Homme JF, Dib C, Auffray C, Morissette J, Weissenbach J and Goddfellow P, (1996). A radiation hybrid map of the human genome. Hum. Mol. Genet. 5: 339-346.
9. Heiskanen M, Karhu R, Hellsten E, Peltonen L, Kallioniemi O-P and Palotie A, (1994). High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells. BioTechniques 17: 928-934.
10. Holmquist GP, (1992). Review article: Chromosome bands, their chromatin flavors, and their functional features. Am. J. Hum. Genet. 51: 17-37.
11. Jones HB, (1997). Estimating physical distances from radiation hybrid mapping data. Genomics 43: 258-266.
12. Lauteala T, Sistonen P, Savontaus M-L, Mykkänen J, Simell J, Lukkarinen M, Simell O and Aula P, (1997). Lysinuric protein intolerance (LPI) maps to the long arm of the chromosome 14. Am. J. Hum. Genet. 60: 1479-1486.
13. Lauteala T, Mykkänen J, Sperandeo PM, Gasparini P, Savontaus M-L, Simell O, Andria G, Sebastio G and Aula P, (1998). Genetic homogeneity of lysinuric protein intolerance. Eur. J. Hum. Genet. 6:612-615.
14. Nagata M, Suzuki M, Kawamura G, Kono S, Koda N, Yamaguchi S and Aoki K, (1987). Immunological abnormalities in a patient with lysinuric protein intolerance. Eur. J. Pediatr. 146: 427-428.
15. Parsons H, Snyder F, Bowen T, Klassen J and Pinto A, (1997). Immune-complex disease consistent with systemic lupus erythematosus (SLE) in a patient with lysine protein intolerance (LPI). VI international congress of inborn errors of metabolism, abstract W15.3.
16. Perheentupa J and Simell O, (1974). Lysinuric protein intolerance. Birth defects Original article series 10: 201-207.
17. Raeymaekers P, Van Zand K, Jun L, Höglund M, Cassiman J-J, Van den Berghe H and Marynen P, (1995). A radiation hybrid map with 60 loci covering the entire short arm of chromosome 12. Genomics 29: 170-178.
18. Rajantie J, Simell O and Perheentupa J, (1981). Basolateral transport defect in renal tubuli. J. Clin. Invest. 67: 1078-1082.
19. Simell O, (1995). Lysinuric protein intolerance and other cationic aminoacidurias. In: The metabolic and molecular bases of inherited disease. (eds C Scriver, A Beaudet, W Sly and D Valle), McGraw-Hill, New York, p. 3603-3627.
20. Walter M, Spillett D, Thomas P, Weissenbach J and Goodfellow P, (1994). A method for constructing radiation hybrid maps of whole genomes. Nature Genet. 7: 22-28.