[Use of molecular and genetic approaches in prenatal diagnosis and prevention of hemophilia A and Duchenne muscular dystrophy].
Allele polymorphism has been evaluated using blot hybridization and a polymerase cascade of DNA synthesis in 40 families at high risk of hemophilia A (a total of 147 subjects) and in 15 families with Duchenne's myodystrophy, Heterozygous carriage of hemophilia A was identified or confirmed in 18 and ruled out in 4 close female relatives of probands. Prenatal tests for fetal hemophilia A were performed in 5 women from families with hemophilia A (in the 1st trimester in 2 and in the 2nd trimester in 3). Four diagnoses of hemophilia A were confirmed and 1 was ruled out. The DNA methods proved revealing in 34 of 40 families with hemophilia A and in 11 of 15 families with Duchenne's myodystrophy. Three of 9 probands were found to have a deletion of the proximal gene for Duchenne's myodystrophy in the DNA probe area of XY 1.1. Prospects of screening for heterozygous carriage and prenatal identification of hemophilia A and Duchenne's myodystrophy are discussed.
Baranov
V S
VS
Aseev
M V
MV
Gorbunova
V N
VN
Ivashchenko
T E
TE
Mikhaĭlov
A V
AV
Gornostaeva
N I
NI
Surin
V L
VL
D015193:Chorionic Villi Sampling / Q000379:methods; D004247:DNA / Q000032:analysis / Q000235:genetics; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D006580:Genetic Carrier Screening / Q000379:methods; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014586:USSR
D015342:DNA Probes; D004247:DNA
Ispol'zovanie molekuliarno-geneticheskikh podkhodov dlia prenatal'noĭ diagnostiki i profilaktiki gemofilii A i miodistrofii Diushenna.