恶性高热的分子遗传学研究

发布时间：2018-11-28 20:01

【摘要】：目的： 研究恶性高热家族的遗传学特点,筛查中国人恶性高热家族的基因突变位点,为临床诊断提供重要的证据。 方法： 在遵守知情同意原则的基础上,一共收集了2个MH家族,分别为家族Ⅰ、家族Ⅱ。每个家族的临床确诊者均在麻醉中出现典型的MH表现,符合MH的临床诊断标准。分别提取患者及其家族成员外周血中白细胞基因组DNA,通过PCR扩增其RYR1基因部分外显子,测序分析。根据基因测序结果,了解患者是否有基因突变,并对其临床确诊者及其家族成员基因突变情况进行分析。 结果： 家族Ⅰ中MH患者及其母亲的PCR产物测序结果表明：RYR1基因第6724位碱基C突变为T(c.6724CT),所编码2206位氨基酸由苏氨酸变为甲硫氨酸(p.T2206M)。限制酶分析确认：临床确诊者及其母亲为该错义突变携带者,为MH易感者。家族Ⅱ中的临床确诊者及其家族成员的RYR1基因热点区外显子均未发现突变。 结论： 中国人中部分MH易感者携带RYR1基因突变,但中国人MH家族分子遗传学特点尚需要进一步研究。基因检测可以作为MH的辅助诊断之一。
[Abstract]:Objective: to study the genetic characteristics of malignant hyperthermia family and to screen gene mutation sites in Chinese malignant hyperthermia family, and to provide important evidence for clinical diagnosis. Methods: based on the principle of informed consent, two MH families were collected. In each family, typical MH findings were found in anesthetized patients, which were in accordance with the clinical diagnostic criteria of MH. Some exons of RYR1 gene were amplified by PCR from peripheral blood leukocytes of patients and their family members, and sequenced. According to the results of gene sequencing, we know if the patients have gene mutations, and analyze the gene mutations of their clinically diagnosed patients and their family members. Results: the PCR products of MH patients and their mothers in family 鈪，

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