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Comparison of direct and indirect methods of carrier detection in an X-linked disease

✍ Scribed by Koeberl, Dwight D. ;Bottema, Cynthia D. K. ;Sommer, Steve S.

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
803 KB
Volume
35
Category
Article
ISSN
0148-7299

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✦ Synopsis

For a severe X-linked disease such as hemophilia B, unrelated patients generally will have different mutations. Restriction fragment length polymorphisms (RFL,Ps) have been used to perform carrier testing in an indirect manner by following the segregation of the disease allele through the pedigree. However, this approach requires family participation and suffers from multiple levels of uncertainty. We have applied the direct sequencing technique of genomic amplification with transcript sequencing (GAWTS) to direct carrier testing. Here we compare direct and RFLP-based testing in two families with hemophilia B. A total of 22 at-risk females was diagnosed by direct testing, whereas only 11 females could be diagnosed by standard RFLP analysis. The superior accuracy and greater conceptual simplicity of direct testing is demonstrated and some commonly overlooked uncertainties in RFLP analysis are highlighted.

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