中国人恶性高热家系蓝尼定受体-1基因的筛查

目的 筛查中国人恶性高热(MH)家系的蓝尼定受体-1(RYR1)基因.方法 提取确诊为MH的先证者及家系其他成员外周血白细胞的基因组DNA,采用PCR扩增先证者RYR1基因的部分外显子,并进行直接测序,采用Fok Ⅰ限制酶分析验证先证者及家系其他成员基因突变情况.结果 先证者RYR1基因第6 724位碱基C突变为T(c.6724 C＞T),所编码第2 206位氨基酸由苏氨酸变为甲硫氨酸(p.T 2206 M),此突变在白种人已报道;先证者的4个子女中有2个为该错义突变携带者,为MH易感者.结论 中国人MH易感者携带与白种人MH易感者相同的RYR1基因突变.

Screening of the ryanodine receptor type 1 gene in a Chinese pedigree with malignant hyperthermia

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.