Abstract:
:The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in Vietnam. Twenty-three unrelated patients, of which 17 have Hb E/beta-thalassemia, were diagnosed and beta-globin mutations were detected in all 46 chromosomes. Four previously reported South Asian mutations were found. The most common mutations were the nonsense in codon 17 (A-->T) and the frameshift at codons 41/42 (-TTCT) (30 and 22%, respectively). The rare frameshift mutation at codon 95 (+A) was present in 9% of the 46 chromosomes studied, suggesting that it is indigenous to Vietnam. These results will serve as an initial database for DNA-based prenatal diagnosis of thalassemia in Vietnam.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Filon D,Oppenheim A,Rachmilewitz EA,Kot R,Truc DBdoi
10.3109/03630260009003428keywords:
subject
Has Abstractpub_date
2000-05-01 00:00:00pages
99-104issue
2eissn
0363-0269issn
1532-432Xjournal_volume
24pub_type
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