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Genetic Screening/ methods
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This study aimed to explore current practice in the molecular diagnosis of haemochromatosis and draft guidelines were prepared using the template developed by the United Kingdom Clinical Molecular Genetics Society
Abstract:
BACKGROUND: Hereditary haemochromatosis (HH) is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y) of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position more...
International Classification:
Practice/knowledge - Symptoms, signs and abonormal clinical and laboratory findings not elses were classified-haemochromatosis
Categories:
molecular diagnosis of haemochromatosis
Geography:
Republic of Ireland
BMC Med Genet,
Vol: 7 Page: 81 2006
C. King; D. E. Barton
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The aim of this study was to examine application of the novel technique of glycosylase mediated polymorphism detection to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria, R408W and I65T,
Abstract:
Mutation detection methods based upon chemical or enzymatic cleavage of DNA offer excellent detection efficiencies coupled with high throughput and low unit cost. We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria more...
International Classification:
Endocrine, nutritional and metabolic diseases - Metabolic disorders - phenylketonuria
Categories:
glycosylase mediated polymorphism detection; -phenylketonuria; R408W; I65T;
Geography:
Republic of Ireland
Hum Mutat,
Vol: 17 Page: 432 May 2001
K. A. O'Donnell; O. Tighe; C. O'Neill; E. Naughten; P. D. Mayne; T. V. McCarthy; P. Vaughan; D. T. Croke
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