Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 - And identification of a shared haplotype

American Journal of Human Genetics

Volumn 67, Issue 1, 2000, Pages 222-228

  Bétard, Christine ^a   Rasquin Weber, Andrée ^b   Brewer, Carl ^a   Drouin, Eric ^b   Clark, Suzanne ^a   Verner, Andrei ^a   Darmond Zwaig, Corinne ^a   Fortin, Julie ^a   Mercier, Jocelyne ^b   Chagnon, Pierre ^b   Fujiwara, T Mary ^a,c   Morgan, Kenneth ^a,c   Richter, Andrea ^b   Hudson, Thomas J ^a,c   Mitchell, Grant A ^b  

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BILIARY CIRRHOSIS; CHILD; CHOLESTASIS; CHROMOSOME 16Q; CHROMOSOME IDENTIFICATION; CLINICAL ARTICLE; DISEASE PREDISPOSITION; DISEASE TRANSMISSION; GENE LOCATION; GENE LOCUS; GENETIC MARKER; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; INHERITANCE; LIVER CIRRHOSIS; NEWBORN JAUNDICE; PRIORITY JOURNAL; RECESSIVE GENE;

EID: 0033911125     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302993     Document Type: Article

References (36)

1. Annunen S, Paassilta P, Lohiniva J, Perälä M, Pihlajamaa T, Karppinen J, Tervonen O, et al (1999) An allele of COL9A2 associated with intervertebral disc disease. Science 285: 409-412
2. Becker A, Geiger D, Schäffer AA (1998) Automatic selection of loop breakers for genetic linkage analysis. Hum Hered 48:49-60
3. Birt AR, Davis RA (1975) Hereditary polymorphic light eruption of American Indians. Int J Dermatol 14:105-111
4. Black DN, Booth F, Watters GV, Andermann E, Dumont C, Halliday WC, Hoogstraten J, et al (1988) Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. Ann Neurol 24:490-496
5. Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, et al (1998) A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 18:219-224
6. Camacho JA, Obie C, Biery B, Goodman BK, Hu C-A, Almashanu S, Steel G, et al (1999) Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in the gene encoding the mitochondrial ornithine transporter. Nat Genet 22:151-158
7. Clayton RJ, Iber FL, Ruebner BH, McKusick VA (1969) Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 117:112-114
8. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
9. de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JE, et al (1998) Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 95:282-287
10. Dib C, Faure S, Fizames C, Drouot N, Vignal A, Millasseau P, Marc S, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: 152-154
11. Dubovsky J, Sheffield VC, Duyk GM, Weber JL (1995) Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet 4:449-452
12. Gray OP, Saunders RA (1966) Familial intrahepatic cholestatic jaundice in infancy. Arch Dis Child 41:320-328
13. Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, et al (1995) A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet 4:493-495
14. Haworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman SI, Greenberg CR, et al (1991) Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds. J Pediatr 118:52-58
15. Hegele RA, Harris SB, Connelly PW, Hanley AJ, Tsui LC, Zinman B, Scherer SW (1998) Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree. Clin Genet 54:394-399
16. Hegele RA, Sun F, Harris SB, Anderson C, Hanley AJ, Zinman B (1999) Genome-wide scanning for type 2 diabetes susceptibility in Canadian Oji-Cree, using 190 microsatellite markers. J Hum Genet 44:10-14
17. Ives EJ, Houston CS (1980) Autosomal recessive microcephaly and micromelia in Cree Indians. Am J Med Genet 7:351-360
18. Koçak N, Gurakan F, Yuce A, Caglar M, Kale G, Gogus S (1997) Nonsyndromic paucity of interlobular bile ducts: clinical and laboratory findings of 10 cases. J Pediatr Gastroenterol Nutr 24:44-48
19. Lathrop GM, Lalouel JM (1984) Easy calculation of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
20. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
21. Lathrop GM, Lalouel JM, White, RL (1986) Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol 3:39-52
22. Lowden JA, Ives EJ, Keene DL, Burton AL, Skomorowski MA, Howard F (1978) Carrier detection in Sandhoff disease. Am J Hum Genet 30:38-45
23. McMillan AD (1995) Native peoples and cultures of Canada: an anthropological overview, 2d ed. Douglas & McIntyre, Vancouver
24. Naveh Y, Bassan L, Rosenthal E, Berkowitz D, Jaffe M, Mandel H, Berant M (1997) Progressive familial intrahepatic cholestasis among the Arab population in Israel. J Pediatr Gastroenterol Nutr 24:548-554
25. Nielsen I-M, Ornvold K, Jacobsen B, Ranek L (1986) Fatal familial cholestatic syndrome in Greenland Eskimo children. Acta Paediatr Scand 75:1010-1016
26. Richter A, Rioux JD, Bouchard JP, Mercier J, Mathieu J, Ge B, Poirier J, et al (1999) Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay in chromosome region 13q11. Am J Hum Genet 64:768-775
27. Robinson BH, Oei J, Sherwood WG, Applegarth D, Wong L, Haworth J, Goodyer R, et al (1984) The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. Am J Hum Genet 36:283-294
28. Schaffet AA (1996) Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 46: 226-235
29. Schäffer AA, Gupta SK, Shriram K, Cottingham RW Jr (1994) Avoiding recomputation in linkage analysis. Hum Hered 44: 225-237
30. Sheffield VC, Stone EM, Carmi R (1998) Use of isolated inbred human populations for identification of disease genes. Trends Genet 14:391-396
31. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, et al (1998) A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 20:233-238
32. Terwilliger JD, Ott J (1994) Handbook of human genetic linkage. Johns Hopkins University Press, Baltimore
33. Toussaint W, Gros H (1966) Familiaerer Icterus durch intrahepatische Cholestase. Dtsch Z Verdau Stoffwechselkr 26: 23-31
34. Weber AM, Tuchweber B, Yousef I, Brochu P, Turgeon C, Gabbiani G, Morin, et al (1981) Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction? Gastroenterology 81:653-662
35. Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K (1996) Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 59:872-878
36. Williams CN, Kaye R, Baker L, Hurwitz R, Senior JR (1972) Progressive familial cholestatic cirrhosis and bile acid metabolism. J Pediatr 81:493-500