[Rapid prenatal diagnosis of 60 cases with beta-thalassemia by reverse dot blot analysis].
OBJECTIVE
To evaluate the rapid prenatal diagnosis method for beta-thalassemia by reverse dot blot (RDB) analysis.


METHODS
Using RDB analysis which can detect 18 types of beta-thalassemia mutation, 60 fetuses (with 1 twin) suspected of beta-thalassemia from 59 couples in Southern China were investigated.


RESULTS
15 fetus had normal genotype, 34 were carriers of heterozygous with one of parental affected gene; 10 had both parental affected genes-heterozygous or homozygous; and 1 was not able to identified. Three rare types of beta-thalassemia mutations (CD43, CD14-15, CD27-28) were detected.


CONCLUSIONS
The RDB assay is able to complete the screening of beta-thalassemia mutation by DNA hybridization in only one single working day. It is simple, accurate and convenient to operate without radio-isotopes. It can be used as a routine technique in clinical laboratory for the detection of carriers and prenatal diagnosis of beta-thalassemia.
Liao
C
C
Medical Genetics Centre, Guangzhou Maternal and Neonatal Hospital.
Xu
X
X
Huang
Y
Y
D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D015151:Immunoblotting; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics