The Study On The Molecular Genetics Of Malignant Hyperthermia In Chinese Pedigrees

Objective:To study Chinese MH family molecular genetic characteristics and provide the basis of molecular genetics for diagnosis.Method:In compliance with the principle of informed consent, a total of2pedigrees with MH has been collected of I and II respectively. Each pedigree proband in anesthesia of the typical MH findings, is in line with the MH standard of clinical diagnosis. The peripheral white blood cell genomic DNA of MH proband and other family members were extracted for the definitive diagnosis, amplified by PCR proband RYR gene exons and analysed by DNA sequencing. According to the results of gene sequencing, we can find mutations in patients and use produce spoon dielectric technology restriction enzyme analysis to verify the proband and other family members of gene mutation.Results:In the proband sequencing of the PCR products, the results show that:the RYR1gene nucleotide in position6724th C mutation for T (c.6724C> T), coded2206amino acid from threonine to methionine, T2206M), this mutation has been reported. Restriction enzyme analysis confirmed:the proband is the missense mutation carrier, MH susceptible person. In the home lines II family pedigrees, the RYR1gene hotspot region exons of the proband and other family members were not found the mutation.Conclusion:In China,only part of the MH susceptible persons carry the MH frequent RYR1mutations, and the genetic features of Chinese MH family needs further study. Genetic testing can be used as one of auxiliary diagnosis for MH.