Linkage analysis and identification of deletion in Alagille syndrome gene

Pediatrics International

Volumn 39, Issue 6, 1997, Pages 647-652

  Yuan, Zeng Rong ^a   Kohsaka, Takao ^a,b   Kobayashi, Noboru ^b  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL CHILDREN S HOSPITAL   (Japan)

Author keywords

Alagille syndrome; Human Jagged I gene; Polymerase chain reaction; Single strand conformational polymorphism; Yeast artificial chromosome

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; CHROMOSOME 20P; CLINICAL ARTICLE; DELETION MUTANT; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER BIOPSY; PRIORITY JOURNAL; SEQUENCE TAGGED SITE; YEAST ARTIFICIAL CHROMOSOME;

ALAGILLE SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; HUMANS; LINKAGE (GENETICS); MALE;

EID: 0031458260     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.1997.tb03661.x     Document Type: Article

References (29)

1. Alagille D., Estrada A., Hadchonel M., Gautier M., Odievre AM, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J. Pediatr. 1987; 110: 195–200.
2. Alagille D. Management of paucity of interlobular bile ducts. J. Hepatol. 1985; 1: 561–5.
3. Dhorne-Pollet S., Deleuze JF, Hadchouel M., Bonaiti-Pellie C. Segregation analysis of Alagille syndrome. J. Med. Genet. 1994; 31: 453–7.
4. Anad F., Buru J., Matthews D. et al. Alagille syndrome and deletion of 20p. J. Med. Genet. 1990; 127: 729–37.
5. Byrne JL, Harrod MJ, Friedman JM, Peebles, Howard PN. Del(20p) with manifestations of arteriohepatic dysplasia Am. J. Med. Genet. 1986; 24: 673–8.
6. Schnittger S., Hofers C., Heidemann P., Beermann F., Hansmann I. Molecular and cytogenetic analysis of interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum. Genet. 1989; 83: 239–44.
7. Zhang FR, Deleuze JF, Aurias A. et al. Interstitial deletion of short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J. Pediatr. 1990; 116: 73–7.
8. Deleuze JF, Hazan J., Dhorne S., Weissenbach J., Hadchouel M. Mapping of microsatellite markers in the Alagille region and screening of microdeletion by genotyping 23 patients. Eur. J. Hum. Genet. 1994; 2: 185–90.
9. Desmaze C., Deleuze JF, Dutrillaux AM, Thomas G., Hadchouel M., Aurias A. Screening of micro deletions of chromosome 20 in patients with Alagille syndrome. J. Med. Genet. 1992; 29: 233–5.
10. Hol FA, Hamel BC, Geurds MPA et al. Localization of Alagille syndrome to 20p11.2–p12 by linkage analysis of a three-generation family. Hum. Genet. 1995; 95: 687–90.
11. Spinner NB, Rand EB, Fortina P. et al. Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular studies. Am. J. Hum. Genet. 1994; 55: 238–43.
12. Hattori M., Sano H., Oda K. et al. A case report of Alagille syndrome with balanced translocation (3;20), (q13.3:p12). J. Jpn. Pediatr. Soc. 1994; 98: 492 (in Jpn).
13. Oda T. Elkahloun AG, Pike BL et al. Mutations in the human Jagged*l gene are responsible for Alagille syndrome. Nature Genet. 1997; 16: 235–42.
14. Li L., Krantz ID, Deng Y. et al. Alagille syndrome is caused by mutations in human Jagged*l, which encodes a ligand for Notch*l. Nature Genet. 1997; 16: 243–51.
15. Legius E., Fryns JP, Eyskens B. et al. Alagille syndrome (arteriohepatic dysplasia) and del (20) (pl 1.2). Am. J. Med. Genet. 1990;35: 532–5.
16. Perez BE, Fuster M., Fraga M. et al. Alagille syndrome: a family case and its association with hepatocellular carcinoma. Rev. Clin. Exp. 1991; 188: 459–62 (in Spanish).
17. Hadchouel M. Paucity of interlobular bile ducts. Semin. Diagn. Pathol. 1992; 9: 24–30.
18. Cohen D., Chumakov I., Weissenbach J. A first-generation physical map of the human genome. Nature 1993; 359: 380–7.
19. Hazan J., Dubay C., Pankowiak MP, Becuwe N., Weissenbach J. A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. Genomics 1992; 12: 183–9.
20. Gyapay G., Morissette J., Vignal A. et al. The 1993–94 Genethon human genetic linkage map. Nature Genet. 1994; 7: 246–339.
21. NIH/CEPH Collaborative Mapping Group. A comprehensive genetic linkage map of the human genome. Science 1992; 258: 67–86.
22. Weissenbach J., Gyapay G., Dib C. et al. A second-generation linkage map of the human genome. Nature 1992; 359: 794–801.
23. Smith CL, Keith T., Hansmann I. et al. Report of the first international workshop on human chromosome 20 mapping 1993. Cytogenet. Cell Genet. 1994; 66: 78–82.
24. Buetow KH, Weber JL, Ludwigsen S. et al. Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet. 1994; 6: 391–3.
25. Burke DT, Carle GF, Olson MV. Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. Science 1987; 236: 806–11.
26. Brownstein BH, Silverman GA, Little RD et al. Isolation of single-copy human gene from a library of yeast artificial chromosome clones. Science 1989; 244: 1348–51.
27. Green ED, Olson MV. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction, Proc. Natl Acad. Sci. USA 1990; 87: 1213–17.
28. Pollet N., Deorne-Pollet S., Deuze J. et al. Construction of a 3.7 Mb physical map within human chromosome 20p 12 ordering 18 markers in the Alagille syndrome locus. Genomics 1995; 27: 467–74.
29. Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R. Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. Am. J. Hum. Genet. 1995; 57: 1068–73.