Linked Linear Amplification for Simultaneous Analysis of the Two Most Common Hemochromatosis Mutations | Zendy

Anthony A. Killeen | Zendy; John W. Breneman | Zendy; Arlene R. Carillo | Zendy; Jason Liu | Zendy; C.S. Hixson | Zendy

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Linked Linear Amplification for Simultaneous Analysis of the Two Most Common Hemochromatosis Mutations

Author(s) -

Anthony A. Killeen,

John W. Breneman,

Arlene R. Carillo,

Jason Liu,

C.S. Hixson

Publication year - 2003

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/49.7.1050

Subject(s) - microbiology and biotechnology , genotyping , hereditary hemochromatosis , restriction fragment length polymorphism , hemochromatosis , genotype , oligonucleotide , multiplex , biology , mutant , point mutation , genetics , multiplex polymerase chain reaction , polymerase chain reaction , dna , gene

Two mutations in HFE, G845A (amino acid substitution C282Y) and C187G (H63D), are associated with hereditary hemochromatosis. We developed and validated a novel method, linked linear amplification (LLA), for detection of these two mutations.

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