Biomaterial Database

Rapid detection of genetic mutations associated with haemochromatosis. 1998

M G Guttridge, and J Thompson, and M Worwood, and C Darke

Regional Tissue Typing Laboratory, Welsh Blood Service, Pontyclun, UK. mguttridge@wbmdr.demon.co.uk

OBJECTIVE The purpose of this study was to establish a rapid method suitable for large-scale population screening, including blood donors, for the detection of two genetic mutations at codons 63 and 282 on the HFE gene that are associated with haemochromatosis. METHODS A method using the polymerase chain reaction with sequence-specific primers (PCR-SSP) was designed and tested using a panel of 185 individuals previously typed for HFE mutations by PCR-RFLP. RESULTS The PCR-SSP method detected the two mutations showing complete agreement with the genotypes obtained by PCR-RFLP. Three HFE alleles, termed HFE-1, -2, and -3, were identified. CONCLUSIONS This PCR-SSP method allows efficient HFE genotyping for large numbers of individuals.

UI	MeSH Term	Description	Entries
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006432	Hemochromatosis	A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)	Diabetes, Bronze,Bronze Diabetes,Bronzed Cirrhosis,Familial Hemochromatosis,Genetic Hemochromatosis,Haemochromatosis,Hemochromatoses,Iron Storage Disorder,Pigmentary Cirrhosis,Primary Hemochromatosis,Troisier-Hanot-Chauffard Syndrome,Von Recklenhausen-Applebaum Disease,Bronzed Cirrhoses,Cirrhoses, Bronzed,Cirrhoses, Pigmentary,Cirrhosis, Bronzed,Cirrhosis, Pigmentary,Disease, Von Recklenhausen-Applebaum,Diseases, Von Recklenhausen-Applebaum,Disorder, Iron Storage,Disorders, Iron Storage,Familial Hemochromatoses,Genetic Hemochromatoses,Haemochromatoses,Hemochromatose,Hemochromatoses, Familial,Hemochromatoses, Genetic,Hemochromatosis, Familial,Hemochromatosis, Genetic,Iron Storage Disorders,Pigmentary Cirrhoses,Recklenhausen-Applebaum Disease, Von,Recklenhausen-Applebaum Diseases, Von,Storage Disorder, Iron,Storage Disorders, Iron,Syndrome, Troisier-Hanot-Chauffard,Syndromes, Troisier-Hanot-Chauffard,Troisier Hanot Chauffard Syndrome,Troisier-Hanot-Chauffard Syndromes,Von Recklenhausen Applebaum Disease,Von Recklenhausen-Applebaum Diseases
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D013997	Time Factors	Elements of limited time intervals, contributing to particular results or situations.	Time Series,Factor, Time,Time Factor
D016037	Single-Blind Method	A method in which either the observer(s) or the subject(s) is kept ignorant of the group to which the subjects are assigned.	Single-Masked Study,Single-Blind Study,Single-Masked Method,Method, Single-Blind,Method, Single-Masked,Methods, Single-Blind,Methods, Single-Masked,Single Blind Method,Single Blind Study,Single Masked Method,Single Masked Study,Single-Blind Methods,Single-Blind Studies,Single-Masked Methods,Single-Masked Studies,Studies, Single-Blind,Studies, Single-Masked,Study, Single-Blind,Study, Single-Masked
D016133	Polymerase Chain Reaction	In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.	Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain