作者
Indhu-Shree Rajan-Babu, Samuel S Chong
发表日期
2019
期刊
Clinical Applications of Capillary Electrophoresis: Methods and Protocols
页码范围
199-210
出版商
Springer New York
简介
Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome—the leading monogenic form of intellectual disability—and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency. Southern blot (SB) analysis is the current gold standard test for FMR1 molecular diagnosis. Several polymerase chain reaction (PCR)-based methods are now available for sizing FMR1 CGG repeat expansions. These methods offer higher diagnostic sensitivity and specificity compared to SB analysis, significantly reduce the turnaround time and increase throughput. In this chapter, we describe a triplet-repeat primed PCR protocol that employs capillary electrophoresis to resolve the derived amplicon products, enabling precise determination of the FMR1 genotypes in both males and females and characterization of the CGG repeat structure.
引用总数
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