Iron beware: A common HFE gene polymorphism may prevent the accurate molecular diagnosis of homozygous hemochromatosis in low-risk, but not high-risk groups

Press, Richard D.

doi:10.1002/hep.510310243

Cited by 3 publications

(3 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Homozygosity for C282Y or H63D was not found. Taken together, allele frequencies for the controls were comparable with those previously found in the German population [12,15].…”

Section: Resultssupporting

confidence: 84%

See 1 more Smart Citation

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients

Tannapfel

Stölzel²,

Köstler

et al. 2001

Virchows Arch

View full text Add to dashboard Cite

show abstract

“…Homozygosity for C282Y or H63D was not found. Taken together, allele frequencies for the controls were comparable with those previously found in the German population [12,15].…”

Section: Resultssupporting

confidence: 84%

“…The hepatic iron concentration was measured by means of atomic absorption spectrometry as described in the literature [15]. In our laboratory, the normal hepatic iron content is less than 2200 µg/g dry weight for men and less than 1600 µg/g dry weight for women.…”

Section: Methodsmentioning

confidence: 99%

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients

Tannapfel

Stölzel²,

Köstler

et al. 2001

Virchows Arch

View full text Add to dashboard Cite

show abstract

“…Most methods employ the polymerase chain reaction (PCR) employing conserved primer target sequences in the HFE gene (4). Furthermore, heteroduplex analysis, single-strand conformation polymorphism (SSCP), probe hybridization, allele-specific PCR, and real-time PCR can be used to assess the HFE mutations (10)(11)(12)(13)(14)(15)(16). Alternatively, mismatched PCR primers can be used which create a specific restriction recognition site after PCR amplification, depending on the presence or absence of a specific HFE mutant (9).…”

Section: Introductionmentioning

confidence: 99%

Genotyping of Hemochromatosis-Associated Mutations in the HFE Gene by PCR-RFLP and a Novel Revers Hybridization Method

Koeken¹,

Cobbaert²,

Quint³

et al. 2002

Clinical Chemistry and Laboratory Medicine

View full text Add to dashboard Cite

Comparative analysis of the hemochromatosis-associated mutations C282Y, H63D and S65C in the HFE gene in 51 patients using three different methods is reported. One PCR-RFLP method was based on general primers, whereas another employed mutation-specific mismatched primers. The third method was a new PCR-based reverse hybridisation line probe assay (LiPA), comprising DNA amplification by general primers followed by a single step reverse hybridization to specific probes, immobilized on a nitrocellulose strip. Forty-eight (94%) of the 51 samples yielded identical results by all three methods. Three discrepant results were obtained, caused by polymorphisms in the primer binding region, resulting in no amplification at all or selective amplification, leading to misinterpretation of the HFE genotype by PCR-RFLP. The design of the assay and the stringency of the reaction conditions used are crucial to obtain a correct HFE genotype. PCR-LiPA offers an easy and reliable alternative to currently used conventional methods.

show abstract

Large-Scale Screening forHFEMutations: Methodology and Cost

Beutler

2000

Genetic Testing

View full text Add to dashboard Cite

Large-scale detection of mutations at the DNA level requires the development of cost-effective methods for the screening of thousands of samples. Hemochromatosis is an appropriate testing ground for the development of such technologies, and we report the methods that we have developed to screen large numbers of samples using equipment available in most laboratories. We are able to examine DNA samples for two mutations in the HFE gene at a cost of only slightly over $8 per sample, a cost that includes overhead and the approximately 40 hr per week of technician time required to perform the studies. The technologies involved in mutation analysis are evolving rapidly and ultimately more highly automated, lower-cost technologies may become available. At present, however, we find the methodology described to be very suitable for large-scale, low-cost mutation screening.

show abstract

Iron beware: A common HFE gene polymorphism may prevent the accurate molecular diagnosis of homozygous hemochromatosis in low-risk, but not high-risk groups

Cited by 3 publications

References 24 publications

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients

Genotyping of Hemochromatosis-Associated Mutations in the HFE Gene by PCR-RFLP and a Novel Revers Hybridization Method

Large-Scale Screening forHFEMutations: Methodology and Cost

Contact Info

Product

Resources

About