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Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.

Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified... Von Hippel-Lindau disease (VHL) is an inherited disorder characterised by a predisposition to develop tumours in the eyes, central nervous system, kidneys, and adrenal glands. Recently the VHL gene was cloned and shown to be mutated in 75% of US and Canadian VHL families. To develop simple, rapid methods for the detection of mutations found in large numbers of affected people, we designed based on the primer specified restriction site modification method. These tests have proved useful in identifying asymptomatic mutated VHL gene carriers who have the nt 505 T to C mutation or the nt 686 T to C mutation. Together with an MspI digestion test which can detect a mutation hot spot in codon 238, polymerase chain reaction/restriction endonuclease based tests can now detect VHL mutations in more than 50% of VHL type 2 families. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Medical Genetics British Medical Journal

Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.

Kishida, T; Chen, F; Lerman, M I; Zbar, B
Journal of Medical Genetics , Volume 32 (12) – Dec 1, 1995
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Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.

Kishida, T; Chen, F; Lerman, M I; Zbar, B
Journal of Medical Genetics , Volume 32 (12) – Dec 1, 1995

Abstract


Von Hippel-Lindau disease (VHL) is an inherited disorder characterised by a predisposition to develop tumours in the eyes, central nervous system, kidneys, and adrenal glands. Recently the VHL gene was cloned and shown to be mutated in 75% of US and Canadian VHL families. To develop simple, rapid methods for the detection of mutations found in large numbers of affected people, we designed based on the primer specified restriction site modification method. These tests have proved useful in identifying asymptomatic mutated VHL gene carriers who have the nt 505 T to C mutation or the nt 686 T to C mutation. Together with an MspI digestion test which can detect a mutation hot spot in codon 238, polymerase chain reaction/restriction endonuclease based tests can now detect VHL mutations in more than 50% of VHL type 2 families.

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Publisher
British Medical Journal
ISSN
0022-2593
eISSN
1468-6244
DOI
10.1136/jmg.32.12.938
Publisher site
See Article on Publisher Site

Abstract

Von Hippel-Lindau disease (VHL) is an inherited disorder characterised by a predisposition to develop tumours in the eyes, central nervous system, kidneys, and adrenal glands. Recently the VHL gene was cloned and shown to be mutated in 75% of US and Canadian VHL families. To develop simple, rapid methods for the detection of mutations found in large numbers of affected people, we designed based on the primer specified restriction site modification method. These tests have proved useful in identifying asymptomatic mutated VHL gene carriers who have the nt 505 T to C mutation or the nt 686 T to C mutation. Together with an MspI digestion test which can detect a mutation hot spot in codon 238, polymerase chain reaction/restriction endonuclease based tests can now detect VHL mutations in more than 50% of VHL type 2 families.

Journal

Journal of Medical Genetics – British Medical Journal

Published: Dec 1, 1995

References

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    Karsdorp, N.; Elderson, A.; Wittebol-Post, D.
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  • Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3
    Hosoe, S.; Brauch, H.; Latif, F.
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    Maher, E.R.; Bentley, E.; Yates, J.R.W.
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    Richards, F.M.; Maher, E.R.; Jones, M.H.
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    Whaley, J.M.; Naglich, J.; Galbert, L.
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    Crossey, P.O.A.; Richards, F.M.; Foster, K.
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    Brauch, H.; Kishida, T.; Glavac, D.
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