【摘要】：目的： 研究惡性高熱家族的遺傳學(xué)特點,篩查中國人惡性高熱家族的基因突變位點,為臨床診斷提供重要的證據(jù)。 方法： 在遵守知情同意原則的基礎(chǔ)上,一共收集了2個MH家族,分別為家族Ⅰ、家族Ⅱ。每個家族的臨床確診者均在麻醉中出現(xiàn)典型的MH表現(xiàn),符合MH的臨床診斷標準。分別提取患者及其家族成員外周血中白細胞基因組DNA,通過PCR擴增其RYR1基因部分外顯子,測序分析。根據(jù)基因測序結(jié)果,了解患者是否有基因突變,并對其臨床確診者及其家族成員基因突變情況進行分析。 結(jié)果： 家族Ⅰ中MH患者及其母親的PCR產(chǎn)物測序結(jié)果表明：RYR1基因第6724位堿基C突變?yōu)門(c.6724CT),所編碼2206位氨基酸由蘇氨酸變?yōu)榧琢虬彼?p.T2206M)。限制酶分析確認：臨床確診者及其母親為該錯義突變攜帶者,為MH易感者。家族Ⅱ中的臨床確診者及其家族成員的RYR1基因熱點區(qū)外顯子均未發(fā)現(xiàn)突變。 結(jié)論： 中國人中部分MH易感者攜帶RYR1基因突變,但中國人MH家族分子遺傳學(xué)特點尚需要進一步研究�；驒z測可以作為MH的輔助診斷之一。
[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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