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- W157595370 abstract "Publisher Summary This chapter focuses on DNA analysis and the antenatal diagnosis of hemoglobinopathies. Recently new techniques of DNA analysis have been used to elucidate the structure of the genes that code for the globins, the protein components of hemoglobin, and the same techniques have been applied to the globin genes implicated in several hemoglobinopathies. The techniques of analysis, originally applied to DNA isolated from adults have now been applied to DNA samples isolated from fetuses in utero. This has opened up the possibility of antenatal diagnosis of hemoglobinopathies by DNA analysis. Defects of hemoglobins fall into several categories that can be broadly described as hemoglobinopathies. These are of two classes: (1) the structural variants, hemoglobins that have altered polypeptide chains caused by amino acid substitutions, and (2) the thalassaemias, caused by reduced or absent synthesis of globin chains. Both conditions may reach very high frequencies in particular populations. Clinically significant structural variants may exhibit instability or altered oxygen affinity." @default.
- W157595370 created "2016-06-24" @default.
- W157595370 creator A5029380427 @default.
- W157595370 date "1981-01-01" @default.
- W157595370 modified "2023-09-27" @default.
- W157595370 title "DNA analysis and the antenatal diagnosis of hemoglobinopathies" @default.
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- W157595370 doi "https://doi.org/10.1016/b978-0-12-270301-0.50006-3" @default.
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