Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations.
In order to initiate a program of prenatal diagnosis for the prevention of beta-thalassemia in China, we have begun systematic studies of the beta-thalassemia mutations among the Chinese. DNA polymorphisms in the beta-globin gene cluster were examined in 46 beta-thalassemia chromosomes. Six different haplotypes were observed. One beta-thalassemia gene associated with a new haplotype was cloned and sequenced. The mutation was a single base substitution (A----G) at position -29 within the highly conserved proximal promoter element (the "TATA" box). This mutation was not observed previously in the Chinese. The beta-thalassemia genes were further screened with oligonucleotide probes specific for all known mutations in the Chinese. Five mutations were identified and accounted for 35 beta-thalassemia alleles.
Huang
S
S
Department of Medical Genetics, Peking Union Medical College, Beijing, P.R. China.
Waber
P G
PG
Dowling
C E
CE
Wong
C
C
Antonarakis
S E
SE
Cai
R L
RL
Wang
M Q
MQ
Lo
W H
WH
Kazazian
H H
HH
D002648:Child; D002681:China; D003001:Cloning, Molecular; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D015345:Oligonucleotide Probes; D013789:Thalassemia / Q000235:genetics*
D015345:Oligonucleotide Probes