染色体微阵列分析检测胎儿中杜氏肌营养不良症基因的单个外显子缺失：一例报告。
Chromosome Microarray Analysis Detection of a Single Exon Deletion of the Duchenne Muscular Dystrophy Gene in a Fetus: a Case Report.
出版信息
Clin Lab. 2022 May 1;68(5). doi: 10.7754/Clin.Lab.2021.210750.
BACKGROUND
Amniocentesis was performed on a pregnant woman with a deletion of exon 45 of the Duchenne Muscular Dystrophy (DMD) gene.
METHODS
Fetal Xp21.1 (31944831-32030363) x 0 was found by chromosome microarray analysis (CMA), i.e., 0.086 Mb hemizygote deletion was detected in the Xp21.1 region of the fetal X chromosome, which contained exon 45 of the DMD gene.
RESULTS
The results verified by MLPA were consistent with those of CMA, which indicated that CMA was accurate in a single exon deletion in this fetus. This case suggests that CMA may become an essential method for the prenatal diagnosis of a fetus with DMD gene deletion/duplication.
CONCLUSIONS
It can routinely detect chromosome copy number variation and analyze DMD diseases caused by exon duplication or deletion, which is enormously significant for new DMD exon deletion or duplication.
背景
对一名 Duchenne 肌营养不良症 (DMD) 基因外显子 45 缺失的孕妇进行了羊膜穿刺术。
方法
通过染色体微阵列分析 (CMA) 发现胎儿 Xp21.1（31944831-32030363）x0，即胎儿 X 染色体 Xp21.1 区域检测到 0.086Mb 半合子缺失，该区域包含 DMD 基因的外显子 45。
结果
MLPA 验证结果与 CMA 一致，表明 CMA 能准确检测该胎儿的单个外显子缺失。该病例提示 CMA 可能成为 DMD 基因缺失/重复胎儿产前诊断的重要方法。
结论
CMA 可常规检测染色体拷贝数变异，并分析由外显子重复或缺失引起的 DMD 疾病，这对新的 DMD 外显子缺失或重复具有重要意义。
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