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Application of DNA polymorphisms for prenatal diagnosis of β thalassemia in chinese
Author(s) -
Chan Vivian,
Chan T. K.,
Ghosh A.,
Wong L. C.,
Ma H. K.,
Kan Y. W.,
Todd D.
Publication year - 1987
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830250407
Subject(s) - thalassemia , prenatal diagnosis , restriction site , fetus , linkage disequilibrium , hindiii , medicine , genetics , genetic counseling , obstetrics , gene , pregnancy , biology , haplotype , genotype , restriction enzyme
Forty‐seven Chinese suffering from β thalassemia major and their parents were studied to establish linkage of the β thal and β A genes with 11 restriction site polymorphisms. There is marked linkage disequilibrium at the BamH I site 3′ to the β globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude β thalassemia major. Using four restriction sites (Hinc II β, Ava II β, Hind III β, and BamH I β), prenatal diagnosis is feasible in all families. In 46% of all cases, a definitive diagnosis can be made, and in the remaining cases, a 50% chance of exclusion is possible. Fetal blood globin chain analysis would be required for the failures. Our experience in nine successive β thalassemia prenatal diagnosis is also reported.