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DNA polymorphism and globin chain analysis in the prenatal diagnosis of β‐thalassaemia major in Taiwan
Author(s) -
Ko TsangMing,
Hsieh FonJou,
Lee TzuYao
Publication year - 1990
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970100405
Subject(s) - prenatal diagnosis , amniocentesis , chorionic villus sampling , hindiii , restriction fragment length polymorphism , fetus , pregnancy , thalassemia , southern blot , medicine , genetics , biology , microbiology and biotechnology , polymerase chain reaction , restriction enzyme , dna , gene
Thirty‐six pregnancies in 25 families at risk of β‐thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the β‐globin gene cluster: ϵ‐HincII, G γ‐HindIII, A γ‐HindIII, Φβ‐HincII, 3′Φβ‐HincII, β‐AvaII, and 3′β BarnHI. β‐Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, β‐thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound‐guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea‐acetic acid‐Triton X‐100‐12 per cent polyacrylamide gel electrophoresis. β‐Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which β‐thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of β‐thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.