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

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Other Titles: 한국인 근디스트로피 환자에서의 Multiple Ligation-dependent Probe Amplification Identification 분석

Authors: Mi Ri Suh ; Kyung-A Lee ; Eun Young Kim ; Jiho Jung ; Won Ah Choi ; Seong-Woong Kang

MeSH: 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* ; Republic of Korea ; Retrospective Studies ; Sequence Analysis, DNA ; Sequence Deletion ; Young Adult

Keywords: Becker muscular dystrophy ; Duchenne muscular dystrophy ; female carrier ; multiple ligation-dependent probe amplification

Abstract: PURPOSE: 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.

MATERIALS AND METHODS: 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.

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%).

CONCLUSION: 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.