[Use of the polymerase chain reaction to detect beta-thalassemia mutations in heterozygous carriers from Azerbaijan while performing prenatal DNA-diagnosis].
Prenatal DNA-diagnosis of beta-thalassemia in a family from Azerbaijan revealed two mutations new for this region--G-A transition at codon 15 and G-C transversion at position 5 of the intron 1. Prenatal diagnosis was carried out by direct sequencing of in vitro amplified (PCR) beta-globin gene fragments with a modified Sanger technique using thermostable DNA polymerase. The absence of parents mutations in the fetal DNA allowed us to conclude that the fetus is normal. The diagnosis was proved at hematological testing of the baby borne.
Surin
V L
VL
Tagiev
A F
AF
Solov'ev
G Ia
GIa
Luk'ianenko
A V
AV
Plutalov
O V
OV
Berlin
Iu A
IuA
D001382:Azerbaijan / Q000453:epidemiology; D001483:Base Sequence; D003062:Codon; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers; D005914:Globins / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000235:genetics* / Q000517:prevention & control
D003062:Codon; D005819:Genetic Markers; D005914:Globins
Ispol'zovanie polimeraznoĭ tsepnoĭ reaktsii dlia vyiavleniia beta-talassemicheskikh mutatsiĭ u geterozygotnykh nositelei iz Azerbaidzhana pri provedenii prenatal'noĭ DNK-diagnostiki.