Gene deletion and carrier detection in the family of Becker muscular dystrophy by short tandem repeat sequence polymorphism |
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Authors: | Cai S Shen D Wang J |
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Institution: | Division of Neuromuscular Disorders Research, Chinese General Hospital of PLA, Beijing 100853, China. |
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Abstract: | Objective To type haplotypes among
the patients, carriers and normal offspring in a family of males with Becker muscular dystrophy
in one generation by allelic fragment length polymorphism analysis. Methods Deletion
analysis of the patients were performed using multiplex polymerase chain reaction (PCR) of
amplification with 9 dystrophin exon primers. Intragenic short tandem repeat (STR) sequence
(STR44, STR45, STR49 and STR50) were amplified by PCR to analyse allelic fragment length
polymorphisms in the members of the family. Results The deletions of exons 17, 19 and 45,
as well as deletions of allelic fragments at the loci of STR44 and STR45 were determined in the
patients. Hemizygosity at those two loci were detected and carrier status ascertained in the
mother of the patients. The normal haplotypes were typed in the sister of the patients.
Conclusion The method of STR sequence polymorphism analysis can determine haplotypes at
normal status or at risk status. It would be used in prenatal diagnosis and carrier detection in
the families of Duchenne and Becker muscular dystrophy. |
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Keywords: | |
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