Abstract：
BACKGROUND: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. METHODS:Two segments of HFE were amplified by a multiplex LLA reaction that generated biotinylated LLA products. Aliquots of the multiplex LLA reaction were captured in microwells by hybridization to immobilized allele-specific oligonucleotides (ASOs). One wild-type and one mutant ASO represented the DNA sequence at each of the two mutation sites. Hybridization was detected by a streptavidin-horseradish peroxidase-based colorimetric method. Genotypes obtained by LLA and PCR-restriction fragment length polymorphism (PCR-RFLP) methods for 320 individuals were compared. RESULTS:The amplified samples included the following genotypes as determined by PCR-RFLP: wild-type 282 and 63 codons (n = 105), C282Y homozygous mutant (n = 54), C282Y heterozygous (n = 52), H63D homozygous mutant (n = 17), H63D heterozygous (n = 59), and compound H63D and C282Y heterozygous mutant (n = 33). There was complete concordance between the results obtained by LLA and those obtained by PCR-RFLP analysis. The presence of another HFE mutation, A193T (encoding S65C), did not interfere with genotyping at codon 63. CONCLUSIONS:LLA provides a reliable method to detect the common mutations in HFE that cause hereditary hemochromatosis.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Killeen AA,Breneman JW 3rd,Carillo AR,Ugozzoli LA,Lowery JD,Liu J,Hixson CSdoi
10.1373/49.7.1050subject
Has Abstractpub_date
2003-07-01 00:00:00pages
1050-7issue
7eissn
0009-9147issn
1530-8561journal_volume
49pub_type
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