Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

E. R. Maher; E. Bentley; J. R. W. Yates; D. Barton; A. Jennings; I. W. Fellows; M. A.  Ponder; B. A. J. Ponder; C. Benjamin; R. Harris; M. A. Ferguson-Smith

doi:10.1016/0022-510x(90)90008-b

Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

E. R. Maher
, E. Bentley
, J. R. W. Yates
, D. Barton
, A. Jennings
, I. W. Fellows
, M. A. Ponder
, B. A. J. Ponder
, C. Benjamin
, R. Harris
, M. A. Ferguson-Smith

Aston Medical School

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

35 Citations (Scopus)

Abstract

Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.

Original language	English
Pages (from-to)	27-30
Number of pages	4
Journal	Journal of the Neurological Sciences
Volume	100
Issue number	1-2
DOIs	https://doi.org/10.1016/0022-510x(90)90008-b
Publication status	Published - Dec 1990

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Chromosome Mapping
Chromosomes, Human, Pair 3
Genes, Dominant
Genetic Markers
Humans
Lod Score
Neoplastic Syndromes, Hereditary/genetics
Polymorphism, Restriction Fragment Length
von Hippel-Lindau Disease/genetics

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10.1016/0022-510x(90)90008-b

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@article{c2ae7b24227d4b3ea094b7f6d9cbefd8,

title = "Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis",

abstract = "Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.",

keywords = "Chromosome Mapping, Chromosomes, Human, Pair 3, Genes, Dominant, Genetic Markers, Humans, Lod Score, Neoplastic Syndromes, Hereditary/genetics, Polymorphism, Restriction Fragment Length, von Hippel-Lindau Disease/genetics",

author = "Maher, \{E. R.\} and E. Bentley and Yates, \{J. R. W.\} and D. Barton and A. Jennings and Fellows, \{I. W.\} and Ponder, \{M. A.\} and Ponder, \{B. A. J.\} and C. Benjamin and R. Harris and Ferguson-Smith, \{M. A.\}",

year = "1990",

month = dec,

doi = "10.1016/0022-510x(90)90008-b",

language = "English",

volume = "100",

pages = "27--30",

journal = "Journal of the Neurological Sciences",

issn = "0022-510X",

publisher = "Elsevier",

number = "1-2",

}

TY - JOUR

T1 - Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

AU - Maher, E. R.

AU - Bentley, E.

AU - Yates, J. R. W.

AU - Barton, D.

AU - Jennings, A.

AU - Fellows, I. W.

AU - Ponder, M. A.

AU - Ponder, B. A. J.

AU - Benjamin, C.

AU - Harris, R.

AU - Ferguson-Smith, M. A.

PY - 1990/12

Y1 - 1990/12

N2 - Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.

AB - Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 3

KW - Genes, Dominant

KW - Genetic Markers

KW - Humans

KW - Lod Score

KW - Neoplastic Syndromes, Hereditary/genetics

KW - Polymorphism, Restriction Fragment Length

KW - von Hippel-Lindau Disease/genetics

UR - https://www.sciencedirect.com/science/article/abs/pii/0022510X9090008B

U2 - 10.1016/0022-510x(90)90008-b

DO - 10.1016/0022-510x(90)90008-b

M3 - Article

C2 - 1982450

SN - 0022-510X

VL - 100

SP - 27

EP - 30

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

IS - 1-2

ER -

Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

Abstract

UN SDGs

Keywords

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