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Restriction fragment length polymorphism in the interzeta hypervariable region for prenatal diagnosis of non‐deletion α thalassemia
Author(s) -
Chan Vivian,
Chan T. K.,
Wong A. C. K.,
Chan T. P. T.,
Ghosh A.,
Todd D.
Publication year - 1988
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.2830270403
Subject(s) - hydrops fetalis , prenatal diagnosis , hypervariable region , restriction fragment length polymorphism , thalassemia , genetics , genotype , biology , fetus , microbiology and biotechnology , gene , pregnancy
A Bam HI restriction fragment length polymorphism in the interzeta hypervariable region (IZ HVR) of the ζ‐α gene cluster was used for the prenatal diagnosis of a pregnancy at risk for Hb H hydrops fetalis. The parents had ζ‐α thalassemia 1 and non‐deletion α thalassemia, respectively, and a previous hydrops was missed using the conventional method of gene detection. In this prenatal diagnosis, linkage to IZ HVR was used to exclude non‐deletion α thalassemia, and the numbers of ζ and α genes in the fetus were quantitated to predict the exact genotype. Confirmation was made by analysis of cord blood at delivery.