|
Journal of Lipid Research, Vol. 43, 407-415, March 2002
Copyright © 2002 by Lipid Research, Inc.
Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds
Rosalind J. Neumana,
Bo Yuana,
Daniela S. Gerharda,
Kuang-Yu Liua,
Pin Yuea,
Shenghui Duana,
Maurizio Avernab, and
Gustav Schonfelda
a Washington University School of Medicine, Department of Psychiatry, 660 South Euclid Avenue, Campus Box 8134, St. Louis, MO 63110
b University of Palermo Medical School, Palermo, Italy
Correspondence to:
Rosalind J. Neuman, To whom correspondence should be addressed., roz{at}gretta.wustl.edu (E-mail)
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by very low apolipoprotein B (apoB) concentrations in plasma and/or low levels of LDL-cholesterol (LDL-C) with a propensity to developing fatty liver. In a minority of cases, truncation-specifying mutations of the apoB gene (APOB) are etiologic, but the genetic basis of most cases is unknown. We previously reported linkage of FHBL to a 10 cM region on 3p21.1-22 in one kindred. The objectives of the current study were to identify other FHBL families with linkage to 3p and to narrow the FHBL susceptibility region on 3p. Six additional FHBL kindreds unlinked to the APOB region on chromosome 2 were genotyped with polymorphic markers spanning a region of approximately 13 cM on chromosome 3.
Quantitative linkage analyses indicated that the FHBL in these families was linked to 3p21.1-22. Haplotype analysis identified several meiotic crossover events, allowing us to narrow the critical region from 10 cM to 2.0 cM, between markers D3S2407 and D3S1767. Neuman, R. J., B. Yuan, D. S. Gerhard, K-Y. Liu, P. Yue, S. Duan, M. Averna, and G. Schonfeld. Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. J. Lipid Res. 2002. 43: 407415.
Supplementary key words:
linkage analysis, genetic, Markov chain Monte Carlo, variance components, oligogenic

CiteULike Complore Connotea Del.icio.us Digg Reddit Technorati What's this?
This article has been cited by other articles:

|
 |

|
 |
 
R. M. Crooke, M. J. Graham, K. M. Lemonidis, C. P. Whipple, S. Koo, and R. J. Perera
An apolipoprotein B antisense oligonucleotide lowers LDL cholesterol in hyperlipidemic mice without causing hepatic steatosis
J. Lipid Res.,
May 1, 2005;
46(5):
872 - 884.
[Abstract]
[Full Text]
[PDF]
|
 |
|

|
 |

|
 |
 
M. D. Badzioch, R. P. Igo Jr, F. Gagnon, J. D. Brunzell, R. M. Krauss, A. G. Motulsky, E. M. Wijsman, and G. P. Jarvik
Low-Density Lipoprotein Particle Size Loci in Familial Combined Hyperlipidemia: Evidence for Multiple Loci From a Genome Scan
Arterioscler. Thromb. Vasc. Biol.,
October 1, 2004;
24(10):
1942 - 1950.
[Abstract]
[Full Text]
[PDF]
|
 |
|

|
 |

|
 |
 
T. Tanoli, P. Yue, D. Yablonskiy, and G. Schonfeld
Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity
J. Lipid Res.,
May 1, 2004;
45(5):
941 - 947.
[Abstract]
[Full Text]
[PDF]
|
 |
|

|
 |

|
 |
 
G. Schonfeld
Familial hypobetalipoproteinemia: a review
J. Lipid Res.,
May 1, 2003;
44(5):
878 - 883.
[Abstract]
[Full Text]
[PDF]
|
 |
|

|
 |

|
 |
 
G. Schonfeld, B. W. Patterson, D. A. Yablonskiy, T. S. K. Tanoli, M. Averna, N. Elias, P. Yue, and J. Ackerman
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis
J. Lipid Res.,
March 1, 2003;
44(3):
470 - 478.
[Abstract]
[Full Text]
[PDF]
|
 |
|
Copyright © 2002 by the American Society for Biochemistry and Molecular Biology.
|
Advertisement
Advertisement
|