位置:成果数据库 > 期刊 > 期刊详情页
多重PCR检测DMD/BMD患者DMD基因外显子缺失的实验研究
  • ISSN号:0577-7402
  • 期刊名称:解放军医学杂志
  • 时间:0
  • 页码:1208-1211
  • 语言:中文
  • 分类:R746.2[医药卫生—神经病学与精神病学;医药卫生—临床医学]
  • 作者机构:[1]第三军医大学新桥医院全军呼吸内科研究所,重庆400037, [2]第三军医大学新桥医院神经内科,重庆400037, [3]第三军医大学新桥医院妇产科,重庆400037, [4]第三军医大学附属西南医院妇产科,重庆400038
  • 相关基金:[基金项目]国家自然科学基金(30772456);重庆市自然基金重点项目(CSTC,2009BA5055);第三军医大学临床科研基金(2007D188);第三军医大学科研创新基金(2007D150)
  • 相关项目:高原适应性相关线粒体DNA遗传突变的鉴别及其功能研究
中文摘要:

目的探索建立Ducherme/Becker肌营养不良(DMD/BMD)的稳定高效的基因诊断方法,为该疾病的临床鉴别诊断提供参考。方法收集2008年5月--2010年5月在第三军医大学新桥医院就诊的汉族男性DMD/BMD患者64例,年龄0.7-45(9.3±1.1)岁。抽取患者外周静脉血5ml,提取基因组DNA后,采用多重PCR(mPCR)扩增DMD/BMD患者DMD基因缺失热区内的18个外显子,确定DMD/BMD患者DMD基因外显子缺失类型。结果64例DMD/BMD患者中,31例(48.44%)存在DMD基因缺失热区内的不同外显子缺失。其中,外显子50缺失频率最高,为35.48%(11/31);外显子47和43次之,分别为32.26%和25.81%(10/31和8/31),外显子45和49缺失率均为19.35%(6/31),外显子19和48缺失率均为16.13%(5/31)。缺失的外显子主要集中在DMD基因的中央缺失热区和5’端缺失热区。结论目前国内外采用的mPCR方法在DMD/BMD患者的临床诊断中发挥了重要作用。探索DMD基因其他缺失热点、重复突变热点或点突变热点,并以此为依据建立新的DMD/BMD基因诊断方法仍然是提高DMD/BMD基因诊断率的发展方向。

英文摘要:

Objective To develop a consistent and effective gene diagnostic method for Duchenne/Becker muscular dystrophy (DMI)/BMD), so as to provide a clinical reference for the differential diagnosis of DMD/BMD diseases. Methods Clinical data of sixtyfour male DMI)/BMI) patients, Han nationality, aged from 0. 7 to 45 (9. 34±1.13) years, were collected between May 2008 and May 2010 from the Departments of Neurology, Pediatrics, and Gynaecology and Obstetrics of affiliated hospitals of Third Military Medical University. Genomic DNA was extracted from 5ml of peripheral blood of each patient. Determination of exon deletion in DMD gene of DMD/BMI) patients was performed by amplifying 18 exon in hotspot deletion regions of DMD gene with multiple PCR (mPCR), and then the deletion type of DMD gene exon was confirmed. Results Deletions of varied exons in hotspot deletion regions of DMD gene were found in 31 (48. 4%) out of 64 patients with DMD/BMD, among which exon 50 deletion ranked the top (35. 5%, 11/31), followed by exon 47 and 43 deletion, accounting for 32. 3% (10/31) and 25.8% (8/31), respectively. Exon 45 deletion was found in 6 out of the 31 patients (19. 3%), while exon 49 deletion existed in same number of patients. Exon 19 deletion, as well as the 48 deletion, was respectively found in 5 out of the 31 patients (16. 1%). In summary, the exon deletion happened mainly in the central and 5-end hotspot deletion region of DMD gene. Conclusions Multiple PCR, extensively used domestically and abroad, plays a vital role in assisting clinical diagnosis of DMD/BMD. It still is worthwhile to explore the other deletion hotpot, duplicated mutational hotpot and point mutation hotpot of DMD gene, and, based on them, new methods for DMD/BMD gene diagnosis can be established, thereby the diagnostic rate of DMD/BMI) disease can be elevated.

同期刊论文项目
同项目期刊论文
期刊信息
  • 《解放军医学杂志》
  • 中国科技核心期刊
  • 主管单位:中国人民解放军总后勤部卫生部
  • 主办单位:人民军医出版社
  • 主编:
  • 地址:北京市100036信箱188分箱
  • 邮编:100036
  • 邮箱:mjcpla@pmmp.com.cn
  • 电话:010-51927306
  • 国际标准刊号:ISSN:0577-7402
  • 国内统一刊号:ISSN:11-1056/R
  • 邮发代号:2-74
  • 获奖情况:
  • 全军医学期刊质量评比优秀期刊奖,北京市全优期刊奖,中国科学引文数据库来源期刊
  • 国内外数据库收录:
  • 俄罗斯文摘杂志,美国化学文摘(网络版),波兰哥白尼索引,荷兰文摘与引文数据库,荷兰医学文摘,日本日本科学技术振兴机构数据库,中国中国科技核心期刊,中国北大核心期刊(2004版),中国北大核心期刊(2008版),中国北大核心期刊(2011版),中国北大核心期刊(2014版),瑞典开放获取期刊指南,中国北大核心期刊(2000版)
  • 被引量:30614