Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds

Maurizio Averna, Daniela S. Gerhard, Rosalind J. Neuman, Shenghui Duan, Bo Yuan, Pin Yue, Gustav Schonfeld, Kuang-Yu Liu

Risultato della ricerca: Article

27 Citazioni (Scopus)

Abstract

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.
Lingua originaleEnglish
pagine (da-a)407-415
Numero di pagine9
RivistaJournal of Lipid Research
Volume43
Stato di pubblicazionePublished - 2002

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Hypobetalipoproteinemias
Apolipoproteins B
Chromosomes
Liver
LDL Cholesterol
Genes
Plasmas
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 2
Fatty Liver
Haplotypes
Familial Hypobetalipoproteinemia
Mutation

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Cell Biology
  • Endocrinology

Cita questo

Averna, M., Gerhard, D. S., Neuman, R. J., Duan, S., Yuan, B., Yue, P., ... Liu, K-Y. (2002). Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. Journal of Lipid Research, 43, 407-415.

Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. / Averna, Maurizio; Gerhard, Daniela S.; Neuman, Rosalind J.; Duan, Shenghui; Yuan, Bo; Yue, Pin; Schonfeld, Gustav; Liu, Kuang-Yu.

In: Journal of Lipid Research, Vol. 43, 2002, pag. 407-415.

Risultato della ricerca: Article

Averna, M, Gerhard, DS, Neuman, RJ, Duan, S, Yuan, B, Yue, P, Schonfeld, G & Liu, K-Y 2002, 'Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds', Journal of Lipid Research, vol. 43, pagg. 407-415.
Averna, Maurizio ; Gerhard, Daniela S. ; Neuman, Rosalind J. ; Duan, Shenghui ; Yuan, Bo ; Yue, Pin ; Schonfeld, Gustav ; Liu, Kuang-Yu. / Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds. In: Journal of Lipid Research. 2002 ; Vol. 43. pagg. 407-415.
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abstract = "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.",
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T1 - Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds

AU - Averna, Maurizio

AU - Gerhard, Daniela S.

AU - Neuman, Rosalind J.

AU - Duan, Shenghui

AU - Yuan, Bo

AU - Yue, Pin

AU - Schonfeld, Gustav

AU - Liu, Kuang-Yu

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AB - 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.

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