[A case of prenatal diagnosis of beta-thalassemia by polymerase chain reaction].
The prenatal diagnosis of beta-thalassemia in the Udin family, where the parents were the carriers of 2 bp deletion in the codon 8 (-AA) was undertaken using PCR. Five polymorphic restriction endonuclease sites in the beta-globin gene region were tested. They are: 2 HindIII sites in the gamma G and gamma A genes, 2 HincII sites located in the pseudogene and in its 3'-flanking region, and the AvaIII site in the second exon of the beta-globin gene. The heteroduplex analysis was also performed. Two HindIII polymorphic sites were informative and the HincII site in the pseudogene and the AvaII site in the beta-globin gene were partially informative. According to the results of the RFLP analysis, the embryo was heterozygous. The similar result was obtained by heteroduplex analysis.
Kolesnikova
T N
TN
Moliaka
Iu K
IuK
Surin
V L
VL
Luk'ianenko
A V
AV
Asanov
A Iu
AIu
Tagiev
A F
AF
Solov'ev
G Ia
GIa
D001483:Base Sequence; D004277:DNA, Single-Stranded; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000175:diagnosis*
D004277:DNA, Single-Stranded; D005914:Globins
Sluchaĭ prenatal'noĭ diagnostiki po povodu beta-talassemii na osnove tekhniki polimeraznoĭ tsepnoĭ reaktsii.