Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

• Published in: Yonsei medical journal Vol. 58; no. 3; pp. 613 - 618
• Main Authors: Suh, Mi Ri, Lee, Kyung-A, Kim, Eun Young, Jung, Jiho, Choi, Won Ah, Kang, Seong-Woong
• Format: Journal Article
• Language: English
• Published: Korea (South) Yonsei University College of Medicine 01.05.2017; 연세대학교의과대학
• Subjects: Adolescent; Adult; Asian Continental Ancestry Group - genetics; Child; DNA Mutational Analysis - methods; Dystrophin - genetics; Exons - genetics; Female; Gene Deletion; Heterozygote; Humans; Male; Mass Screening; Multiplex Polymerase Chain Reaction - methods; Muscular Dystrophy, Duchenne - diagnosis; Muscular Dystrophy, Duchenne - ethnology; Muscular Dystrophy, Duchenne - genetics; Mutation - genetics; Original; Republic of Korea; Retrospective Studies; Sequence Analysis, DNA; Sequence Deletion; Young Adult; 의학일반; Becker muscular dystrophy; female carrier; Duchenne muscular dystrophy; multiple ligation-dependent probe amplification
• DOI: 10.3349/ymj.2017.58.3.613
• ISSN: 0513-5796; 1976-2437

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries. We analyzed multiplex ligation-dependent probe amplification (MLPA) data in a large number of Korean patients with DMD/BMD. We obtained 130 positive MLPA results (86 DMD, 27 BMD, and 17 female carriers) from 272 candidates (237 clinically suspected patients and 35 possible female carriers) who took part in this study. We analyzed the mutation patterns among 113 patients diagnosed by MLPA and calculated deletion/duplication percentages from a total of 128 patients, including 15 patients who were diagnosed using methods other than MLPA. We also analyzed hot spot locations among the 130 MLPA-positive results. Most mutations were detected in a central hot spot region between exons 44 and 55 (80 samples, 60.6%). Unlike previous reports, a second frequently observed hot spot near the 5'-end was not distinctive. MLPA detected deletions in specific exons in 92 patients with DMD/BMD (71.8%) and duplications in 21 patients (16.4%). Our MLPA study of a large number of Korean patients with DMD/BMD identified the most frequent mutation hot spot, as well as a unique hot spot pattern. DMD gene mutation patterns do not appear to show significant ethnic differences.