Gene deletion and carrier detection in the family of Becker muscular dystrophy by short tandem repeat sequence polymorphism.
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.


CONCLUSIONS
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.
Cai
S
S
Division of Neuromuscular Disorders Research, Chinese General Hospital of PLA, Beijing 100853, China.
Shen
D
D
Wang
J
J
D000293:Adolescent; D000328:Adult; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D020080:Tandem Repeat Sequences