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Carrier detection in X-linked diseases

✍ Scribed by G.A. Nicholson


Book ID
119117519
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
236 KB
Volume
2
Category
Article
ISSN
0166-2236

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Comparison of direct and indirect method
✍ Koeberl, Dwight D. ;Bottema, Cynthia D. K. ;Sommer, Steve S. πŸ“‚ Article πŸ“… 1990 πŸ› John Wiley and Sons 🌐 English βš– 803 KB

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.