CAJ | 학술논문

假肥大型肌营养不良是由于Dystrophin基因突变而导致的X-连锁隐型遗传病，目前对这种疾病还没有有效的治疗方法。通过基因诊断技术对假肥大型肌营养不良患者以及携带者进行准确、全面的突变检测，进而进行产前诊断避免患儿的出生是目前解决这一问题的最有效途径。近几年来，一些常规的Dystrophin基因突变检测技术有了新的进展，同时也出现了一些全新的技术。该文对几种重要检测技术的研究进展进行综述。
가비대형기영양불량시유우Dystrophin기인돌변이도치적X-련쇄은형유전병，목전대저충질병환몰유유효적치료방법。통과기인진단기술대가비대형기영양불량환자이급휴대자진행준학、전면적돌변검측，진이진행산전진단피면환인적출생시목전해결저일문제적최유효도경。근궤년래，일사상규적Dystrophin기인돌변검측기술유료신적진전，동시야출현료일사전신적기술。해문대궤충중요검측기술적연구진전진행종술。
Pseudohypertrophic muscular dystrophy (PMD) is an X-linked, recessive disease caused by mutations in the dystrophin gene, but there is no effective treatment available to cure this condition. Enforcing accurate and complete mutation analysis of PMD patients and identifying carriers, based on gene diagnosis techniques, and then preventing the birth of affected children via prenatal diagnosis are the most effective method to decrease its incidence. Recently there are some new advances in the diagnostic techniques using established mutations analysis of dystrophin gene. Some new technologies were also emerged. This article will overview the progress of some important gene diagnostic techniques.