Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.
J Clin Invest
; 79(4): 1204-9, 1987 Apr.
Article
em En
| MEDLINE
| ID: mdl-2881949
ABSTRACT
We have used two strategies to study 14 hemophilia B families from 11 kindreds for possible carrier detection and prenatal diagnosis. First, we sequentially used the Factor IX probes (sequentially with restriction enzymes Taq I, Xmn I, and Dde I), and the linked probes p45h (Taq I), p45d (Pst I), and 52a (Taq I) for restriction fragment length polymorphism (RFLP) analysis. Second, we searched for useful variant Taq I digestion fragments using the Factor IX complementary DNA. Two separate new Taq I variants in exon VIII were identified. Using both strategies, 11 of 14 families (from 9 of 11 kindreds) were informative for further studies. In five kindreds studied in detail, the carrier status of all 11 at risk females was determined and prenatal diagnosis could be offered to the offsprings of each of the six carriers identified. Thus, in this study, we have identified a higher proportion of informative families than has previously been reported.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
DNA
/
Desoxirribonucleases de Sítio Específico do Tipo II
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Hemofilia B
/
Triagem de Portadores Genéticos
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
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Male
Idioma:
En
Ano de publicação:
1987
Tipo de documento:
Article