Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level.

T. V. McCarthy; J. M. Healy; M. Lehane; J. J. Heffron

Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level.

T. V. McCarthy
, J. M. Healy
, M. Lehane
, J. J. Heffron

University College Cork

Research output: Contribution to journal › Review article › peer-review

Abstract

Molecular genetic linkage studies on the inherited human disorder malignant hyperthermia have resulted in the mapping of the locus for malignant hyperthermia susceptibility (MHS) to the twenty centimorgan genetic interval in the q12-13.2 region of chromosome 19 defined by the anonymous polymorphic DNA markers D19S9 and BCL3. The mapping of the MHS locus to this interval now allows diagnosis of MHS in selected families with an accuracy of 97.5% using closely linked polymorphic DNA markers.

Original language	English
Pages (from-to)	107-112
Number of pages	6
Journal	Acta Anaesthesiologica Belgica
Volume	41
Issue number	2
Publication status	Published - 1990

Cite this

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title = "Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level.",

abstract = "Molecular genetic linkage studies on the inherited human disorder malignant hyperthermia have resulted in the mapping of the locus for malignant hyperthermia susceptibility (MHS) to the twenty centimorgan genetic interval in the q12-13.2 region of chromosome 19 defined by the anonymous polymorphic DNA markers D19S9 and BCL3. The mapping of the MHS locus to this interval now allows diagnosis of MHS in selected families with an accuracy of 97.5\% using closely linked polymorphic DNA markers.",

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year = "1990",

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T1 - Recent developments in the molecular genetics of malignant hyperthermia

T2 - implications for future diagnosis at the DNA level.

AU - McCarthy, T. V.

AU - Healy, J. M.

AU - Lehane, M.

AU - Heffron, J. J.

PY - 1990

Y1 - 1990

N2 - Molecular genetic linkage studies on the inherited human disorder malignant hyperthermia have resulted in the mapping of the locus for malignant hyperthermia susceptibility (MHS) to the twenty centimorgan genetic interval in the q12-13.2 region of chromosome 19 defined by the anonymous polymorphic DNA markers D19S9 and BCL3. The mapping of the MHS locus to this interval now allows diagnosis of MHS in selected families with an accuracy of 97.5% using closely linked polymorphic DNA markers.

AB - Molecular genetic linkage studies on the inherited human disorder malignant hyperthermia have resulted in the mapping of the locus for malignant hyperthermia susceptibility (MHS) to the twenty centimorgan genetic interval in the q12-13.2 region of chromosome 19 defined by the anonymous polymorphic DNA markers D19S9 and BCL3. The mapping of the MHS locus to this interval now allows diagnosis of MHS in selected families with an accuracy of 97.5% using closely linked polymorphic DNA markers.

UR - https://www.scopus.com/pages/publications/0025176423

M3 - Review article

C2 - 1973552

AN - SCOPUS:0025176423

SN - 0001-5164

VL - 41

SP - 107

EP - 112

JO - Acta Anaesthesiologica Belgica

JF - Acta Anaesthesiologica Belgica

IS - 2

ER -

Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level.

Abstract

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