Studies of beta-thalassemia mutations in families living in three provinces in southern China.
beta-Thalassemia is a common disease in Southern China and 10 different mutations or frameshifts are responsible for most types of beta-thalassemia in this area. We studied 126 chromosomes of 80 beta-thalassemia patients from the Guangxi, Guangdong, and Sichuan Provinces using the polymerase chain reaction followed by dot-blot hybridization with specific oligonucleotide probes. The most common mutation in the three provinces is the frameshift at codons 41-42, followed by the A----T mutation at codon 17. The A----G mutation at nt -29 of the promoter is common in Sichuan but not in the other two provinces. Three mutations (T----C at nt -30; G----T at IVS-I-1, and G----C at IVS-I-5) were not observed. These data were used to initiate a prenatal diagnosis program using the same techniques for identification. Eleven fetuses at risk for beta-thalassemia have been diagnosed.
Liu
J Z
JZ
Institute of Basic Medical Sciences, Chinese Academy of Medical Science, P.R.
Gao
Q S
QS
Jiang
Z
Z
Liang
C C
CC
Yang
K G
KG
Wu
G Y
GY
Long
G F
GF
Li
Q
Q
Zhang
J
J
Deng
B
B
D001483:Base Sequence; D002681:China / Q000453:epidemiology; D015193:Chorionic Villi Sampling; D003062:Codon; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*
D003062:Codon; D015342:DNA Probes; D005914:Globins