使用脉冲场凝胶电泳分析拷贝数变异：为面肩肱型肌营养不良1型提供基因诊断

Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1.

作者信息

Lemmers Richard J L F

机构信息

Department of Human Genetics, Leiden University Medical Center, 2333, ZA, Leiden, The Netherlands.

出版信息

Methods Mol Biol. 2017;1492:107-125. doi: 10.1007/978-1-4939-6442-0_7.

DOI:10.1007/978-1-4939-6442-0_7

PMID:27822859

Abstract

The myopathy facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by copy number variation of the D4Z4 macrosatellite repeat on chromosome 4. In unaffected individuals the number of 3.3 kb D4Z4 units varies between 8 and 100, whereas 1-10 units are seen in FSHD1 cases. A homologous and heterogenous D4Z4 array can be found on chromosome 10q, but contractions of this array are typically not associated with FSHD. Discriminating between the chromosome 4 and chromosome 10 D4Z4 arrays, as well as determining the array size, requires the use of pulsed-field gel electrophoresis, Southern blotting, and the isolation of high-quality DNA.

摘要

1型面肩肱型肌营养不良症（FSHD1）是由4号染色体上D4Z4大卫星重复序列的拷贝数变异引起的。在未受影响的个体中，3.3 kb D4Z4单元的数量在8到100之间变化，而在FSHD1病例中可见1 - 10个单元。在10号染色体上可以发现同源且异质的D4Z4阵列，但该阵列的收缩通常与FSHD无关。区分4号染色体和10号染色体上的D4Z4阵列以及确定阵列大小需要使用脉冲场凝胶电泳、Southern印迹法和高质量DNA的分离。