Article
[Molecular diagnosis of fragile X-chromosome syndrome (Martin-Bell syndrome) in patients of native populations].
Genetika - 1 Jun 1993
Baranov V S, Aseev M V, Rakisheva Z B, Kuleshov N P, Marinicheva G S, Bychkova A M, Zukin V D, Ledashcheva E A, Amoashiĭ D S, Kuznetsova T V
Abstract excerpt
63 families at-rist of Fragile X-syndrome (FraX) are subjected to Southern blot analysis with the DNA probes Ox1.9 and Ox0.55. Molecular studies have confirmed an initial clinical diagnosis of FraX in 26 families earlier studied cytogenetically and in 11 of 27 families with only some clinical traits of FraX syndrome in proband. Full mutation and premutation condition of FMR-1 gene was ascertained in 34 and...
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