[Relationship of phenotype with type of deletion of dystrophin gene].
OBJECTIVE
To detect the distribution characteristics of dystrophin gene deletions in the northeastern of China and the relationship of severity with type of deletion.


METHODS
To screen deletion distribution of 124 DMD/BMD patients via multiplex PCR, male high-risk fetuses were detected deletion by the same method.


RESULTS
The deletion frequency was 49%. Deletions located in the regions of exons 45 - 53 and exons 8 - 19 were 41 (67%) and 13 (21%) cases respectively, and in 5 (8%) cases deletions were scattered over both regions, still 2 cases (3%) were checked up deletions lying in exons 34 and 43; there were 9 cases of in-frame deletions and 49 frameshift mutations in all deletions; of 30 high-risk fetuses 10 male ones were screened deletions, who had the same deletion-segments as their probands.


CONCLUSIONS
The distribution of dystrophin gene deletions in the northeastern of China cluster mainly in two hot-spots, neighboring regions of exon 8 might be a real deletion "hot spot" in this region; the phenotype is associated with the type of gene deletion, the phenotype is BMD when in-frame deletions occur; severe DMD when frameshift mutations occur. Multiplex PCR method provides the short-cuts for detecting patients and making prenatal gene diagnosis.
Lu
Yang
Y
Department of Obstetrics and Gynaecology, Shenyang Maternity and Infant Hospital, Shenyang 110014, China.
Lu
Ping
P
Jin
Chun-lian
CL
Lin
Chang-kun
CK
Wu
Ying-yu
YY
Sun
Kai-lai
KL
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
D016189:Dystrophin