A COMPARISON OF THE CAFFEINE HALOTHANE MUSCLE CONTRACTURE TEST WITH THE MOLECULAR GENETIC DIAGNOSIS OF MALIGNANT HYPERTHERMIA

被引：29

作者：

MACKENZIE, AE

ALLEN, G

LAHEY, D

CROSSAN, ML

NOLAN, K

METTLER, G

WORTON, RG

MACLENNAN, DH

KORNELUK, R

机构：

[1] UNIV OTTAWA,OTTAWA CIVIC HOSP,DEPT ANESTHESIA,OTTAWA K1N 6N5,ONTARIO,CANADA

[2] UNIV TORONTO,HOSP SICK CHILDREN,DEPT GENET,TORONTO M5G 1X8,ONTARIO,CANADA

[3] UNIV TORONTO,DEPT MED GENET,TORONTO M5S 1A1,ONTARIO,CANADA

[4] UNIV TORONTO,BANTING & BEST DEPT MED RES,TORONTO M5S 1A1,ONTARIO,CANADA

来源：

ANESTHESIOLOGY | 1991年 / 75卷 / 01期

关键词：

MALIGNANT HYPERTHERMIA GENETIC LINKAGE; RYANODINE; RECEPTOR GENE MEASUREMENT TECHNIQUES; CAFFEINE HALOTHANE CONTRACTURE TEST;

D O I：

10.1097/00000542-199107000-00002

中图分类号：

R614 [麻醉学];

学科分类号：

100217 ;

摘要：

Malignant hyperthermia (MH) is currently diagnosed by the caffeine-halothane contracture (CHC) test. In a previous study, this test was used to establish linkage between the human gene for MH susceptibility and the ryanodine receptor (RYR) gene. The current study extends the genetic linkage analysis to a large French-Canadian kindred. In this family, genetic linkage between RYR and MH genes was not demonstrable using the currently recommended limits of normal for the CHC test in the identification of MH-susceptible individuals. With CHC test threshold limits below those currently recommended, however, complete linkage between the RYR and MH genes was seen. Comparisons of CHC test results with genetic linkage studies will increase the diagnostic accuracy of both tests as well as generate new insights into the biology of MH.

引用

页码：4 / 8

页数：5