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[Analysis of prenatal diagnosis for 120 cases of beta-thalassemia]
1Medical Genetics Department, SUN Yat-sen University of Medical Science, Guangzhou 510089.
Objective:
To analyse the results of prenatal gene diagnosis of beta-thalassemia.
Methods:
By using the reverse dot blot method with an allele specific oligonucleotide probe(ASO/DRB).
Results:
In 120 cases of prenatal gene diagnosis, there are 30 of normal fetal; 63 of beta-thalassemia heterozygotes; 26 of beta-thalassemia homozygotes or dual heterozygotes; one of no diagnosis because the beta mutated gene can not be detected in one side of the parent.
Conclusions:
Acording to the follow-up studies, the babies unconcordance with prenatal diagnosis have not been found, the accuracy rate being 100%. Amniotic fluid specimen of the middle stage of pregnancy is the best for detection.
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