Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea

• 발행기관: 대한의학유전학회
• 저자명: Min Ji Kang Cho Hee Jeong Sung Im Cho Joong Shin Park Jong Kwan Jun Sung Sup Park
• 간행물 정보: 『대한의학유전학회지』제17권 제1호, 27~33쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2020.06.30

영문 초록

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial aggregates, prenatal diagnosis is an important role in the management of DMD family. We present our experience of prenatal molecular diagnosis and carrier detection based on multiplex polymerase chain reaction (PCR), multiplex ligation-dependent probe ampliἀcation (MLPA), and linkage analysis.Materials and Methods: During study period, 34 cases of prenatal diagnosis and 21 cases of carrier detection were per-formed at the Seoul National University Hospital. Multiplex PCR and MLPA was used to detect the exon deletions or duplica-tions. When the DMD pathogenic variant in the affected males is unknown and no DMD pathogenic variant is detected in at-risk females, linkage analysis was used.Results: The prenatal molecular diagnosis was offered to 34 fetuses. Twenty-five fetuses were male and 6 fetuses (24.0%) were affected. Remaining cases had no pathogenic mutation. We had 24 (80.0%) cases of known proband results; exon dele-tion mutation in 19 (79.2%) cases and duplication in 5 (20.8%) cases. Linkage analysis was performed in 4 cases in which 2 cases (50.0%) were found to be affected. In the carrier testing, among 21 cases including 15 cases of mother and 6 cases of female relative, 9 (42.9%) cases showed positive results and 12 (57.1%) cases showed negative results.Conclusion: Prenatal molecular diagnosis and carrier detection of DMD are effective and feasible. They are useful in genetic counseling for DMD families.

목차

Introduction

Materials and Methods

Results

Discussion

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References

키워드

Prenatal diagnosis Muscular dystrophy Duchenne Multiplex polymerase chain reaction Multiplex ligation-dependent probe ampliἀ cation Linkage analysis