Dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients via multiplex DNA amplification.

T. M. Ko, L. H. Tseng, H. C. Chiu, F. J. Hsieh, T. Y. Lee

Research output: Contribution to journalArticle

Abstract

Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease. The dystrophin gene responsible for the disease is the largest human gene ever cloned and is prone to gross gene deletion in two "hot spot" regions. Using nine pairs of oligonucleotide primers deduced from the two regions, we have screened 23 unrelated Chinese DMD/BMD patients by multiplex polymerase chain reaction. Nine (39%) patients were noted to have gene deletion, one in the 5' terminus and eight in the distal half of the gene. The incidence is similar to that reported in other large series mainly on Caucasian patients. The "hot-spot" regions also seem to be present in Chinese patients. Multiplex gene amplification for deletion analysis is useful in the diagnosis of patients with neuromuscular diseases and is an important aid in the prenatal diagnosis and genetic counseling of at-risk families.

Original languageEnglish (US)
Pages (from-to)951-954
Number of pages4
JournalJournal of the Formosan Medical Association
Volume91
Issue number10
Publication statusPublished - Oct 1992
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)

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