Sensitivity and Frequencies of Dystrophin Gene Mutations in Thai DMD/BMD Patients As Detected by Multiplex PCR | Zendy

Thanyachai Sura | Zendy; Jakris Euahsunthornwattana | Zendy; Sarinee Pingsuthiwong | Zendy; Manisa Busabaratana | Zendy

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Sensitivity and Frequencies of Dystrophin Gene Mutations in Thai DMD/BMD Patients As Detected by Multiplex PCR

Author(s) -

Thanyachai Sura,

Jakris Euahsunthornwattana,

Sarinee Pingsuthiwong,

Manisa Busabaratana

Publication year - 2008

Publication title -

disease markers

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.912

H-Index - 66

eISSN - 1875-8630

pISSN - 0278-0240

DOI - 10.1155/2008/521568

Subject(s) - multiplex polymerase chain reaction , gene , genetics , multiplex , biology , dystrophin , polymerase chain reaction , microbiology and biotechnology , medicine

Duchenne muscular dystrophy (DMD), a lethal X-linked disease affecting 1 in 3500 male births, and its more benign variant, Becker muscular dystrophy (BMD), are caused by mutations in the dystrophin gene. Because of its large size, analysing the whole gene is impractical. Methods have been developed to detect the commonest mutations i.e. the deletions of the exons. Although these tests are highly specific, their sensitivity is inherently limited by the prevalence of deletions, which differs among different populations.

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