Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene.
Sixty-nine unrelated Chinese DMD patients were studied with a series of genomic and cDNA probes. Analysis of 13 polymorphic sites showed that pERT87-1, 87-8, 87-15, and XJ probes gave favourable allele frequencies in the Chinese population, and nearly 90% of the DMD families in this study were informative for prenatal diagnosis and carrier detection using these four polymorphic markers. Nine out of 69 (13%) were also found to have gene deletions using a panel of genomic probes. However, when using cDNA probes, deletions were found in 56.5% of the patients. The deletions were concentrated in the areas of probes 7 and 8, giving a proportion of about 80% of all deleted patients in this study. All these results provide valuable information for planning prenatal diagnosis programmes for DMD in China.
Zeng
Y T
YT
Surgical Institute of Medical Genetics, Shanghai Children's Hospital, People's Republic of China.
Chen
M J
MJ
Ren
Z R
ZR
Qui
X K
XK
Huang
S Z
SZ
D000483:Alleles; D002681:China; D002872:Chromosome Deletion; D004247:DNA / Q000737:chemistry*; D015342:DNA Probes; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D015342:DNA Probes; D004247:DNA