Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis

E. R. Maher; E. Bentley; J. R. W. Yates; F. Latif; M. Lerman; B. Zbar; N. A. Affara; M. A. Ferguson-Smith

doi:10.1016/0888-7543(91)90185-h

Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis

E. R. Maher, E. Bentley, J. R. W. Yates, F. Latif, M. Lerman, B. Zbar, N. A. Affara, M. A. Ferguson-Smith

Aston Medical School

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

Abstract

Genetic linkage studies were performed in 22 families with von Hippel-Lindau (VHL) disease by using polymorphic DNA markers from distal chromosome 3p. Linkage was detected between VHL disease and the markers D3S18 (Zmax = 6.6 at theta = 0.0, confidence interval (CI) 0.00-0.06), RAF1 (Zmax = 5.9 at theta = 0.06, CI 0.01-0.16), and THRB (Zmax 3.4 at theta = 0.11). Multipoint linkage analysis localized the VHL disease gene within a small region (approximately 8 cM) of 3p25-p26 between RAF1 and (D3S191, D3S225) and close to the D3S18 locus. There was no evidence of locus heterogeneity, and families with and without pheochromocytoma showed linkage to D3S18. The identification of DNA markers flanking the VHL disease gene allows reliable presymptomatic and prenatal diagnosis to be offered to informative families.

Original language	English
Pages (from-to)	957-60
Number of pages	4
Journal	Genomics
Volume	10
Issue number	4
DOIs	https://doi.org/10.1016/0888-7543(91)90185-h
Publication status	Published - Aug 1991

Keywords

Adrenal Gland Neoplasms/genetics
Blotting, Southern
Chromosome Mapping
Chromosomes, Human, Pair 3
DNA/genetics
Family
Genetic Linkage
Genetic Markers
Genetic Predisposition to Disease
Humans
Lod Score
Pheochromocytoma/genetics
Polymorphism, Restriction Fragment Length
von Hippel-Lindau Disease/genetics

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10.1016/0888-7543(91)90185-h

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@article{1929ab68396a4ff8bbdda640b839aa0d,

title = "Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis",

abstract = "Genetic linkage studies were performed in 22 families with von Hippel-Lindau (VHL) disease by using polymorphic DNA markers from distal chromosome 3p. Linkage was detected between VHL disease and the markers D3S18 (Zmax = 6.6 at theta = 0.0, confidence interval (CI) 0.00-0.06), RAF1 (Zmax = 5.9 at theta = 0.06, CI 0.01-0.16), and THRB (Zmax 3.4 at theta = 0.11). Multipoint linkage analysis localized the VHL disease gene within a small region (approximately 8 cM) of 3p25-p26 between RAF1 and (D3S191, D3S225) and close to the D3S18 locus. There was no evidence of locus heterogeneity, and families with and without pheochromocytoma showed linkage to D3S18. The identification of DNA markers flanking the VHL disease gene allows reliable presymptomatic and prenatal diagnosis to be offered to informative families.",

keywords = "Adrenal Gland Neoplasms/genetics, Blotting, Southern, Chromosome Mapping, Chromosomes, Human, Pair 3, DNA/genetics, Family, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease, Humans, Lod Score, Pheochromocytoma/genetics, Polymorphism, Restriction Fragment Length, von Hippel-Lindau Disease/genetics",

author = "Maher, {E. R.} and E. Bentley and Yates, {J. R. W.} and F. Latif and M. Lerman and B. Zbar and Affara, {N. A.} and Ferguson-Smith, {M. A.}",

year = "1991",

month = aug,

doi = "10.1016/0888-7543(91)90185-h",

language = "English",

volume = "10",

pages = "957--60",

number = "4",

}

TY - JOUR

T1 - Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis

AU - Maher, E. R.

AU - Bentley, E.

AU - Yates, J. R. W.

AU - Latif, F.

AU - Lerman, M.

AU - Zbar, B.

AU - Affara, N. A.

AU - Ferguson-Smith, M. A.

PY - 1991/8

Y1 - 1991/8

N2 - Genetic linkage studies were performed in 22 families with von Hippel-Lindau (VHL) disease by using polymorphic DNA markers from distal chromosome 3p. Linkage was detected between VHL disease and the markers D3S18 (Zmax = 6.6 at theta = 0.0, confidence interval (CI) 0.00-0.06), RAF1 (Zmax = 5.9 at theta = 0.06, CI 0.01-0.16), and THRB (Zmax 3.4 at theta = 0.11). Multipoint linkage analysis localized the VHL disease gene within a small region (approximately 8 cM) of 3p25-p26 between RAF1 and (D3S191, D3S225) and close to the D3S18 locus. There was no evidence of locus heterogeneity, and families with and without pheochromocytoma showed linkage to D3S18. The identification of DNA markers flanking the VHL disease gene allows reliable presymptomatic and prenatal diagnosis to be offered to informative families.

AB - Genetic linkage studies were performed in 22 families with von Hippel-Lindau (VHL) disease by using polymorphic DNA markers from distal chromosome 3p. Linkage was detected between VHL disease and the markers D3S18 (Zmax = 6.6 at theta = 0.0, confidence interval (CI) 0.00-0.06), RAF1 (Zmax = 5.9 at theta = 0.06, CI 0.01-0.16), and THRB (Zmax 3.4 at theta = 0.11). Multipoint linkage analysis localized the VHL disease gene within a small region (approximately 8 cM) of 3p25-p26 between RAF1 and (D3S191, D3S225) and close to the D3S18 locus. There was no evidence of locus heterogeneity, and families with and without pheochromocytoma showed linkage to D3S18. The identification of DNA markers flanking the VHL disease gene allows reliable presymptomatic and prenatal diagnosis to be offered to informative families.

KW - Adrenal Gland Neoplasms/genetics

KW - Blotting, Southern

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 3

KW - DNA/genetics

KW - Family

KW - Genetic Linkage

KW - Genetic Markers

KW - Genetic Predisposition to Disease

KW - Humans

KW - Lod Score

KW - Pheochromocytoma/genetics

KW - Polymorphism, Restriction Fragment Length

KW - von Hippel-Lindau Disease/genetics

UR - https://www.sciencedirect.com/science/article/abs/pii/088875439190185H

U2 - 10.1016/0888-7543(91)90185-h

DO - 10.1016/0888-7543(91)90185-h

M3 - Article

C2 - 1680799

SN - 0888-7543

VL - 10

SP - 957

EP - 960

JO - Genomics

JF - Genomics

IS - 4

ER -

Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis

Abstract

Keywords

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