Confirmation of linkage in von Hippel-Lindau disease

Jeffery M. Vance; Kent W. Small; Mary A. Jones; Jeffrey M. Stajich; Larry H. Yamaoka; Allen D. Roses; Wu Yen Hung; Margaret A. Pericak-Vance

doi:10.1016/0888-7543(90)90488-G

Confirmation of linkage in von Hippel-Lindau disease

Jeffery M. Vance, Kent W. Small, Mary A. Jones, Jeffrey M. Stajich, Larry H. Yamaoka, Allen D. Roses, Wu Yen Hung, Margaret A. Pericak-Vance

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

Von Hippel-Lindau (VHL) disease was initially reported to be linked to the RAF1 oncogene (3p25). We have ascertained and sampled two large multigenerational VHL families for linkage studies, in order to confirm the localization of the VHL gene as a prelude to fine mapping studies. The probes used in the analysis were p627 (RAF1) and pHeA12 (thyroid hormone receptor B) (3p24.1-3p22). VHL was analyzed as an autosomal dominant trait with age-dependent penetrance. The maximum lod score combining both families was z(θ ̇) = 2.16 at θ = 0.0 for RAF1 and z(θ ̇) = 2.20 at θ = 0.05 for thyroid hormone receptor B. Multipoint analysis using the RAF1 and thyroid hormone receptor B loci resulted in a peak lod score of 3.1 confirming linkage of VHL to this region of chromosome 3. However, the position of VHL relative to the two loci could not be established with certainty.

Original language	English (US)
Pages (from-to)	565-567
Number of pages	3
Journal	Genomics
Volume	6
Issue number	3
DOIs	https://doi.org/10.1016/0888-7543(90)90488-G
State	Published - Mar 1990
Externally published	Yes

ASJC Scopus subject areas

Genetics

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@article{e1d51db6af6d48c2a94a2f8f2e5a41c4,

title = "Confirmation of linkage in von Hippel-Lindau disease",

abstract = "Von Hippel-Lindau (VHL) disease was initially reported to be linked to the RAF1 oncogene (3p25). We have ascertained and sampled two large multigenerational VHL families for linkage studies, in order to confirm the localization of the VHL gene as a prelude to fine mapping studies. The probes used in the analysis were p627 (RAF1) and pHeA12 (thyroid hormone receptor B) (3p24.1-3p22). VHL was analyzed as an autosomal dominant trait with age-dependent penetrance. The maximum lod score combining both families was z(θ{\. }) = 2.16 at θ = 0.0 for RAF1 and z(θ{\. }) = 2.20 at θ = 0.05 for thyroid hormone receptor B. Multipoint analysis using the RAF1 and thyroid hormone receptor B loci resulted in a peak lod score of 3.1 confirming linkage of VHL to this region of chromosome 3. However, the position of VHL relative to the two loci could not be established with certainty.",

author = "Vance, {Jeffery M.} and Small, {Kent W.} and Jones, {Mary A.} and Stajich, {Jeffrey M.} and Yamaoka, {Larry H.} and Roses, {Allen D.} and Hung, {Wu Yen} and Pericak-Vance, {Margaret A.}",

note = "Funding Information: The authors thank Nigel Walker, Fiona Francis, John Pufky, Kenneth Wilkinson, Edward Hanson, and Guillermo Arana for their excellent technical contributions to this work; Peggy Pate and Helen Harbett for data processing; Carol Haynes and Marcy Speer for computer expertise, and Carolyn Turner for manuscript preparation. THRB was kindly provided by C. Weinberger; RAF1 was obtained from the ATCC. This project was supported in part by NIH Grant NS26630, the Leadership and Excellence in Alxheimer{\textquoteright}s Disease (LEAD) Award AG07992, and CIDA Grant NS01289.",

year = "1990",

month = mar,

doi = "10.1016/0888-7543(90)90488-G",

language = "English (US)",

volume = "6",

pages = "565--567",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

number = "3",

}

TY - JOUR

T1 - Confirmation of linkage in von Hippel-Lindau disease

AU - Vance, Jeffery M.

AU - Small, Kent W.

AU - Jones, Mary A.

AU - Stajich, Jeffrey M.

AU - Yamaoka, Larry H.

AU - Roses, Allen D.

AU - Hung, Wu Yen

AU - Pericak-Vance, Margaret A.

N1 - Funding Information: The authors thank Nigel Walker, Fiona Francis, John Pufky, Kenneth Wilkinson, Edward Hanson, and Guillermo Arana for their excellent technical contributions to this work; Peggy Pate and Helen Harbett for data processing; Carol Haynes and Marcy Speer for computer expertise, and Carolyn Turner for manuscript preparation. THRB was kindly provided by C. Weinberger; RAF1 was obtained from the ATCC. This project was supported in part by NIH Grant NS26630, the Leadership and Excellence in Alxheimer’s Disease (LEAD) Award AG07992, and CIDA Grant NS01289.

PY - 1990/3

Y1 - 1990/3

N2 - Von Hippel-Lindau (VHL) disease was initially reported to be linked to the RAF1 oncogene (3p25). We have ascertained and sampled two large multigenerational VHL families for linkage studies, in order to confirm the localization of the VHL gene as a prelude to fine mapping studies. The probes used in the analysis were p627 (RAF1) and pHeA12 (thyroid hormone receptor B) (3p24.1-3p22). VHL was analyzed as an autosomal dominant trait with age-dependent penetrance. The maximum lod score combining both families was z(θ ̇) = 2.16 at θ = 0.0 for RAF1 and z(θ ̇) = 2.20 at θ = 0.05 for thyroid hormone receptor B. Multipoint analysis using the RAF1 and thyroid hormone receptor B loci resulted in a peak lod score of 3.1 confirming linkage of VHL to this region of chromosome 3. However, the position of VHL relative to the two loci could not be established with certainty.

AB - Von Hippel-Lindau (VHL) disease was initially reported to be linked to the RAF1 oncogene (3p25). We have ascertained and sampled two large multigenerational VHL families for linkage studies, in order to confirm the localization of the VHL gene as a prelude to fine mapping studies. The probes used in the analysis were p627 (RAF1) and pHeA12 (thyroid hormone receptor B) (3p24.1-3p22). VHL was analyzed as an autosomal dominant trait with age-dependent penetrance. The maximum lod score combining both families was z(θ ̇) = 2.16 at θ = 0.0 for RAF1 and z(θ ̇) = 2.20 at θ = 0.05 for thyroid hormone receptor B. Multipoint analysis using the RAF1 and thyroid hormone receptor B loci resulted in a peak lod score of 3.1 confirming linkage of VHL to this region of chromosome 3. However, the position of VHL relative to the two loci could not be established with certainty.

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DO - 10.1016/0888-7543(90)90488-G

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AN - SCOPUS:0025335214

VL - 6

SP - 565

EP - 567

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 3

ER -

Confirmation of linkage in von Hippel-Lindau disease

Abstract

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