Linkage of a gene for familial hypobetalipoproteinenmia to chromosone 3p21.1-22

American Journal of Human Genetics

Volumn 66, Issue 5, 2000, Pages 1699-1704

  Yuan, B ^a   Neuman, R ^a   Duan, S H ^a   Weber, J L ^b   Kwok, P Y ^a   Saccone, N L ^a   Wu, J S ^a   Liu, K Y ^b   Schonfeld, Gustav ^a,c  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MARSHFIELD CLINIC   (United States)

^c WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; DNA; HIGH DENSITY LIPOPROTEIN; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN;

ARTICLE; CHROMOSOME 3P; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HYPOBETALIPOPROTEINEMIA; LIPID METABOLISM; NEPHELOMETRY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE TRAIT;

LOKI;

EID: 0033910818     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302904     Document Type: Article

References (22)

1. Ahmed A, Keefe EB (1998) Asymptomatic elevation of aminotransferase levels and fatty liver secondary to heterozygous hypobetalipoproteinemia. Am J Gastroenterol 93: 2598-2599
2. Almasy L, Blangero J (1998) Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62: 1198-1211
3. Anderson KM, Castelli WP, Levy D (1987) Cholesterol and mortality: 30 years of follow-up from the Framingham study. JAMA 257:2176-2180
4. Contois JH, McNamara JR, Lammi-Keefe CJ, Wilson PWF, Massov T, Schaefer EJ (1996) Reference intervals for plasma apolipoprotein B determined with a standardized commercial immunoturbidimetric assay: results from the Framingham Offspring Study. Clin Chem 42:515-523
5. Cottingham RW Jr, Idury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
6. Daw EW, Heath SC, Witsman EM (1999) Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. Am J Hum Genet 64:839-851
7. Farese RV, Linton MF, Young SG (1992) Apolipoprotein-B gene mutations affecting cholesterol levels. J Intern Med 231:643-652
8. Fazio S, Sidoli A, Vivenzio A, Maietta A, Giampaoli S, Menotti A, Antonini R, et al (1991) A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene. J Intern Med 229:41-47
9. Hasstedt S (1994) Pedigree analysis package, revision 4. Department of Human Genetics, University of Utah, Salt Lake City
10. Havel RJ, Kane JP (1995a) Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. 7th ed. McGraw-Hill, New York, pp 1853-1886
11. -(1995b) Structure and metabolism of plasma lipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. 7th ed. McGraw-Hill, New York, pp 1841-1852
12. Hobbs HH, Leitersdorf E, Leffert CC, Cryer DR, Brown MS, Goldstein JL (1989) Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J Clin Invest 84:656-664
13. Heath SC (1996) Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet 58:1323-1337
14. 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
15. Lathrop G, Lalouel J, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Nad Acad Sci USA 81:344-346
16. National Heart, Lung, and Blood Insitute and Lipid Research Clinics Program (1982) Manual of laboratory operations lipid research clinic program. In: Lipid and lipoprotein analysis. 2d ed. National Heart, Lung, and Blood Insitute, Bethesda
17. Pulai JI, Neuman RJ, Groenewegen AW, Wu J, Schonfeld G (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. Am J Med Genet 76:79-86
18. Schonfeld G (1995) The hypobetalipoproteinemias. Annu Rev Nutr 15:23-34
19. Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337
20. Tarugi P, Lonardo A, Ballarini G, Grisendi A, Pulvirenti M, Bagni A, Calandra S (1996) Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B. Gastroenterology 111:1125-1133
21. Welty FK, Lahoz C, Tucker KL, Ordovas JM, Wilson PW, Schaefer EJ (1998) Frequency of ApoB and ApoE gene mutations as causes of hypobetalipoproteinemia in the Framingham offspring population. Arterioscler Thromb Vasc Biol 18:1745-1751
22. Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, Averna M, et al (1999) Known mutations of apoB account for only a small minority of hypobetalipoproteinemia. J Lipid Res 40: 955-959