Genetic heterogeneity in familial hypobetalipoproteinemia: Linkage and non-linkage to the ApoB gene in caucasian families

American Journal of Medical Genetics

Volumn 76, Issue 1, 1998, Pages 79-86

  Pulai, Judit I ^a   Neuman, Rosalind J ^a   Groenewegen, Antoinette W ^b   Wu, Jingshi ^a   Schonfeld, Gustav ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UTRECHT UNIVERSITY   (Netherlands)

Author keywords

Familial hypobetalipoproteinemia; Heterogeneity; Linkage

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENETIC DISORDER; GENETIC LINKAGE; HUMAN; HYPOBETALIPOPROTEINEMIA; HYPOLIPEMIA; LIPID METABOLISM; MALE; PRIORITY JOURNAL;

APOLIPOPROTEINS B; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GENOTYPE; HAPLOTYPES; HUMANS; HYPOBETALIPOPROTEINEMIAS; LINKAGE (GENETICS); LOD SCORE; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0032568129     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980226)76:1<79::AID-AJMG15>3.0.CO;2-M     Document Type: Article

References (31)

1. Aguilar-Salinas CA, Barrett PHR, Parhofer KG, Young SG, Tessereau D, Bateman J, Quinn C, Schonfeld G (1995): Apoprotein B-100 production is decreased in subjects heterozygous for truncations of apoprotein B. Arteriosclerosis Thromb Vasc Biol 15:71-80.
2. Boehnke M (1991): Allele frequency estimation from pedigree data. Am J Hum Genet 48:22-25.
3. Boerwinkle E, Xiong W, Fourest E, Chan L (1989): Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction applications to the apolipoprotein B 3′ hypervariable region. Proc Natl Acad Sci USA 86:212-216.
4. Boerwinkle R, Chan L (1989): A three codon insertion/deletion polymorphism in the signal peptide region of the human apolipoprotein B (apoB) gene directly typed by the polymerase chain reaction. Nucl Acid R 17:4003.
5. Collins DR, Pease TJ, Powell RJ, Wallis LM, Robertson SC, Pullinger S, Milne CR, Marcel RW, Humphries YL, Talmud SE, Lloyd PJ, Miller JK, Muller NE, Scott D, Knott J (1988): Truncated variants of apolipoprotein B cause hypobetalipoproteinemia. Nucl Acids Res 16:8361-8375.
6. Contois JH, McNamara JR, Lammi-Keffe 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.
7. Fazio S, Sidoli A, Vivenzio A, Maietta A, Giampaoli S, Menotti A, Antonini R, Urbinati G, Baralle FE, Ricci G (1991): A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein-B gene. J Int Med 229:41-47.
8. Frohlich J, Pritchard PH (1992): Analysis of familial hypoalphalipoproteinemia syndromes [review]. Mol Cell Biochem 113:141-149.
9. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau Marc S, Bernardi G, Lathrop M, Weissenbach J (1994): The 1993-1994 Généthon human genetic linkage map. Nature Genetics 7:246-339.
10. Havel RJ, Kane JP (1995a): Structure and metabolism of plasma lipoproteins, in Scriver CR, Beaudet AL, Sly WS, Valle D. (Eds): The Metabolic Basis of Inherited Disease, ed 7. New York: McGraw-Hill Book Co., pp 1841-1852.
11. Havel RJ, Kane JP (1995b): 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, ed 7. New York: McGraw-Hill Book Co., pp 1853-1886.
12. Hixson JE, Vernier DT (1990): Restriction isotyping of human apolipoprotein-E by gene amplification and cleavage with Hhal. J Lipid Res 31: 545-548.
13. 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.
14. Huang LS, Kayden H, Sokol RJ, Breslow JL (1991): ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J Lipid Res 32:1341-1348.
15. Huang LS, Ripps ME, Korman SH, Deckelbaum RJ, Breslow JL (1989): Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. J Biol Chem 264:11394-11400.
16. Krul ES, Parhofer KG, Barrett PHR, Wagner RD, Schonfeld G (1992): ApoB-75, a truncation of apolipoprotein-B associated with familial hypobetalipoproteinemia-genetic and kinetic studies. J Lipid Res 33: 1037-1050.
17. Lathrop GM, Lalouel J-M, Julier C, Ott J (1984): Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446.
18. Leppert M, Breslow JL, Uw L, Hasstedt S, O'Connell P, Lathrop M, Williams RR, White R, Lalouel JM (1988): Inference of a molecular defect of apolipoprotein B by linkage analysis in a large kindred. J Clin Invest 82:847-851.
19. Linton MF, Farese RV, Young SG (1993): Familial hypobetalipoproteinemia. [Review] J Lipid Res 34:521-541.
20. Lipid Research Clinics Population Studies Data Book (1980): The prevalence study. Vol 1 (NIH) 80-1527.
21. Ludwig EH, Friedll W, McCarthy BJ (1989): High resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am J Hum Gen 45:458-464.
22. Ludwig EH, McCarthy BJ (1990): Haplotype analysis of the human apolipoprotein-B mutation associated with familial defective apolipoprotein-B100. Am J Hum Gen 47:712-720.
23. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, Sheffield VC, Sunden S, Duyk GM (1994): A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 265:2049-2054.
24. Ott J (1991): "Analysis of human genetic linkage." Baltimore: The Johns Hopkins University Press.
25. Parhofer KG, Barrett PHR, Aguilar-Salinas CA, Schonfeld G (1996): Positive linear correlation between the length of truncated apolipoprotein B and its secretion rate: In vivo studies in human apoB-89, apoB-75, apoB-54.8, and apoB-31 heterozygotes. J Lipid Res 37:844-852.
26. Powell LM, Wallis SC, Pease RJ, Edwards YH, Knott TJ, Scott J (1987): A novel form of tissue-specific RNA processing produces apolipoprotein B-48 in intestine. Cell 50:831-840.
27. Sass C, Giroux LM, Ma YH, Roy M, Lavigne J, Lussiercacan S, Davignon J, Minnich A (1995): Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia. Hum Genet 96:21-26.
28. Schonfeld G (1995): The hypobetalipoproteinemias. [Review] Annu Rev Nut 15:23-34.
29. Talmud PJ, Krul ES, Pessah M, Gay G, Schonfeld G, Humphries SE, Infante R (1994): Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia. J Lipid Res 5:468-477.
30. Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M, Schmitz J, Gay G, Rader DJ, Gregg RE (1992): Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 258:999-1001.
31. Young SG (1990): Recent progress in understanding apolipoprotein-B. Circulation 82:1574-1594.