Screening of the ryanodine receptor type 1 gene in a Chinese pedigree with malignant hyperthermia / 中华麻醉学杂志

ABSTRACT

Objective To screen the ryanodine receptor type 1(RYR1)gene in a Chinese pedigree with malignant hyperthermia(MH).Methods Total genome was extracted conventionally from peripheral leucocytes of the prohand and the other members of the family.In order to detect mutations in the RYR1 gene,part exons were amplified by polymerase chain reaction(PCR)and then subjected tO automatic DNA sequencing.The detected mumfion in the gene was confirmed in the preband and the other members of the family using Fok Ⅰ restriction analysis.Results DNA sequencing of PCR-amplified fragments of the pwband revealed c.6724C＞T (P.T2206M),a recurrent missense mutation which had been detected in Caucasian MH cages.Restriction analysis of all available family members showed that one daughter and one son of the 4 children of the proband were the missense mutation carriers,indicating that they were MH-susceptible individuals.Conclusion The Chinese susceptible to MH carries the simile RYR1 gene mutation to the Caucasians susceptible to MH.