Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis
β Scribed by E. J. B. M. Mensink; A. Thompson; J. D. L. Schot; M. E. M. Kraakman; L. A. Sandkuyl; R. K. B. Schuurman
- Book ID
- 115089554
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 388 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0009-9163
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The gene responsible for X-linked agammaglobulinemia (XLA) has not been identified; however, in the course of genetic linkage studies designed to map the locus more precisely, a number of closely linked polymorphic loci have been identified. These have proved to be useful in identifying carriers and
## Abstract Prenatal diagnosis was performed in 81 cases at risk for the fragile X syndrome. There were 12 fra (X)βpositive cases, two of which showed low expression in cultured amniotic fluid cells. FUdR and high thymidine were used for induction of fra(X) (q27.3) expression in all cases. In 21 ca