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.
Surgical Institute of Medical Genetics, Shanghai Children's Hospital, People's Republic of China.
Y T
YT
Zeng
M J
MJ
Chen
Z R
ZR
Ren
X K
XK
Qui
S Z
SZ
Huang
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