[The types and distributive features of gene mutation on beta-thalassemia in three districts in northwest China].
OBJECTIVE
To sum up the results of gene analyses on beta-Thalassemia in three districts in northwest China and discuss the types and distributive features of the mutation.


METHODS
Polymerase china reaction in combination with dot-blot hybridization of allele-specific oligonucleutide probes(PCR-ASO).


RESULTS
In the gene analysis carried out in 85 probands with beta-Thalassemia, twelve types of gene mutation were identified from five nationalities. CD8(-AA), CDs8-9(+G), CDs27-28(+C) heterozygote and [-28(A-->uG). CD17(A-->uT)/N] double heterozygote were firstly assayed in these districts besides the common types in Chinese, of which, [-28(A-->uG). CD17(A-->uT)/N] as double gene mutation in the same chromosome is rare.


CONCLUSIONS
There are significant differences in the distribution and nationality features of gene mutation types for beta-Thalassemia in the three districts, so the three districts as a whole is an area with special distributive features of the disease.
Research Institute of Clinical Medicine, Urumqi General Hospital of Lanzhou Command PLA, Urumqi, Xinjiang, 830000 P. R. China.
W
W
Yu
H
H
Li
Y
Y
Zhang
D
D
Chou
C
C
Zhou
R
R
Tian
Y
Y
Yang
Y
Y
Xie
Z
Z
Zhang
H
H
Liu
Y
Y
Fu
R
R
Chen
X
X
Lu
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*