MacKenzie A E, Allen G, Lahey D, Crossan M L, Nolan K, Mettler G, Worton R G, MacLennan D H, Korneluk R
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Anesthesiology. 1991 Jul;75(1):4-8. doi: 10.1097/00000542-199107000-00002.
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.
恶性高热（MH）目前通过咖啡因-氟烷挛缩（CHC）试验进行诊断。在先前的一项研究中，该试验被用于确定人类MH易感性基因与兰尼碱受体（RYR）基因之间的连锁关系。当前的研究将基因连锁分析扩展到一个大型法裔加拿大家族。在这个家族中，使用目前推荐的CHC试验正常范围界限，在识别MH易感个体时，未发现RYR与MH基因之间存在基因连锁。然而，当CHC试验阈值界限低于目前推荐值时，可观察到RYR与MH基因之间存在完全连锁。将CHC试验结果与基因连锁研究进行比较，将提高这两种试验的诊断准确性，并为MH生物学特性带来新的见解。
