Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 630-633

  Strautnieks, Sandra S ^a   Kagalwalla, Amir F ^b   Tanner, M Stuart ^c   Knisely, A S ^d   Bull, Laura ^e   Freimer, Nelson ^e   Kocoshis, Sam A ^f   Gardiner, R Mark ^a   Thompson, Richard J ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^d Denver Aurora Pathology Associates   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHOLESTASIS; CHROMOSOME 2Q; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; PEDIGREE; PRIORITY JOURNAL;

EID: 0030869696     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515501     Document Type: Article

References (18)

1. Adler M, Chung KW, Schaffner F (1980) Pericanalicular hepatocytic and bile ductular microfilaments in cholestasis in man. Am J Pathol 98:603-616
2. Anneren G, Nemeth A, Arnell H, Dahl N (1996) Byler disease: evidence for genetic heterogeneity by exclusion of linkage to the 18q21-q22 region in eight Swedish families. Eur J Hum Genet 4 Suppl 1:99
3. Bull LN, Carlton VEH, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, et al (1997) Genetic and morphologic findings in progressive familial intrahepatic cholestasis (Byler disease and Byler syndrome): evidence for heterogeneity. Hepatology 26:155-164
4. Carlton VE, Knisely AS, Freimer NB (1995) Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet 4:1049-1053
5. Clayton RJ, Iber FL, Ruebner BH, McKusick VA (1965) Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. J Pediatr 67:1025-1028
6. Collins A, Frezal J, Teague J, Morton NE (1996) A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci USA 93:14771-14775
7. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
8. Frimmer M, Ziegler K (1988) The transport of bile acids in liver cells. Biochim Biophys Acta 947:75-99
9. Hagenbuch B, Stieger B, Foguet M, Lubbert H, Meier PJ (1991) Functional expression cloning and characterization of the hepatocyte Na+/bile acid cotransport system. Proc Natl Acad Sci USA 88:10629-10633
10. Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB (1994) Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 8:380-386
11. Inoue M, Kinne R, Tran T, Arias IM (1984) Taurocholate transport by rat liver canalicular membrane vesicles: evidence for the presence of an Na+-independent transport system. J Clin Invest 73:659-663
12. Kagalwalla AF, Al-Amir AR, Khalifa A, Sylven M, Al-Ajaji S, Kagalwalla YA (1995) Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children. Ann Trop Paediatr 15:321-327
13. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
14. Riely CA (1994) In: Suchy F (ed) Liver disease in children. Mosby, St Louis, pp 451-453
15. Strautnieks SS, Kagalwalla AF, Tanner MS, Gardiner RM, Thompson RJ (1996) Locus heterogeneity in progressive familial intrahepatic cholestasis. J Med Genet 33:833-836
16. Weber AM, Tuchweber B, Yousef I, Brochu P, Turgeon C, Gabbiani G, Morin CL, et al (1981) Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction? Gastroenterology 81:653-662
17. Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL (1994) Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 18:134-141
18. Wong MH, Rao PN, Pettenati MJ, Dawson PA (1996) Localization of the ileal sodium-bile acid cotransporter gene (SLC10A2) to human chromosome 13q33. Genomics 33: 538-540