Haemochromatosis gene frequency in a control and diabetic Irish population.

Hdl Handle:
http://hdl.handle.net/10147/139352
Title:
Haemochromatosis gene frequency in a control and diabetic Irish population.
Authors:
Kirk, L; Bird, J; Ramadan, S; Samad, A; Adebayo, G; Lourens, W; Williams, J
Affiliation:
Pathology Department, Sligo General Hospital, Sligo, Ireland.
Citation:
Haemochromatosis gene frequency in a control and diabetic Irish population. 2009, 178 (1):39-42 Ir J Med Sci
Journal:
Irish journal of medical science
Issue Date:
Mar-2009
URI:
http://hdl.handle.net/10147/139352
DOI:
10.1007/s11845-008-0248-6
PubMed ID:
19002551
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed?term=19002551
Abstract:
Hereditary haemochromatosis is inherited in an autosomal recessive manner. Two major mutations have been identified and the condition is emerging as one of the most common recessive mutations among subjects of Northern European descendants.; This study investigated the prevalence of C282Y, H63D and S65C (three mutations of clinical significance for haemochromatosis), in a diabetic and control population from the North West of Ireland.; DNA was extracted from whole blood samples of 249 known diabetics and 249 controls and assayed for the three genetic variants (C282Y, H63D and S65C).; The incidence for C282Y homozygosity is higher in the control population (1 in 83) when compared to the diabetic group (1 in 249). However, this is not statistically significant. S65C heterozygosity occurs with an incidence of 1 in 32 in control individuals and 1 in 124 in the diabetic population. The prevalence of the H63D mutation was similar in both populations.; For the three haemochromatosis mutations, there was no significant difference between the control group and the diabetic populations.
Item Type:
Article
Language:
en
Description:
BACKGROUND: Hereditary haemochromatosis is inherited in an autosomal recessive manner. Two major mutations have been identified and the condition is emerging as one of the most common recessive mutations among subjects of Northern European descendants. AIM: This study investigated the prevalence of C282Y, H63D and S65C (three mutations of clinical significance for haemochromatosis), in a diabetic and control population from the North West of Ireland. METHODS: DNA was extracted from whole blood samples of 249 known diabetics and 249 controls and assayed for the three genetic variants (C282Y, H63D and S65C). RESULTS: The incidence for C282Y homozygosity is higher in the control population (1 in 83) when compared to the diabetic group (1 in 249). However, this is not statistically significant. S65C heterozygosity occurs with an incidence of 1 in 32 in control individuals and 1 in 124 in the diabetic population. The prevalence of the H63D mutation was similar in both populations. CONCLUSION: For the three haemochromatosis mutations, there was no significant difference between the control group and the diabetic populations.
MeSH:
Adolescent; Adult; Aged; Aged, 80 and over; Case-Control Studies; Diabetes Mellitus; Female; Genotype; Hemochromatosis; Histocompatibility Antigens Class I; Humans; Ireland; Male; Membrane Proteins; Middle Aged; Prevalence; Young Adult
ISSN:
1863-4362

Full metadata record

DC FieldValue Language
dc.contributor.authorKirk, Len
dc.contributor.authorBird, Jen
dc.contributor.authorRamadan, Sen
dc.contributor.authorSamad, Aen
dc.contributor.authorAdebayo, Gen
dc.contributor.authorLourens, Wen
dc.contributor.authorWilliams, Jen
dc.date.accessioned2011-08-10T15:39:54Z-
dc.date.available2011-08-10T15:39:54Z-
dc.date.issued2009-03-
dc.identifier.citationHaemochromatosis gene frequency in a control and diabetic Irish population. 2009, 178 (1):39-42 Ir J Med Scien
dc.identifier.issn1863-4362-
dc.identifier.pmid19002551-
dc.identifier.doi10.1007/s11845-008-0248-6-
dc.identifier.urihttp://hdl.handle.net/10147/139352-
dc.descriptionBACKGROUND: Hereditary haemochromatosis is inherited in an autosomal recessive manner. Two major mutations have been identified and the condition is emerging as one of the most common recessive mutations among subjects of Northern European descendants. AIM: This study investigated the prevalence of C282Y, H63D and S65C (three mutations of clinical significance for haemochromatosis), in a diabetic and control population from the North West of Ireland. METHODS: DNA was extracted from whole blood samples of 249 known diabetics and 249 controls and assayed for the three genetic variants (C282Y, H63D and S65C). RESULTS: The incidence for C282Y homozygosity is higher in the control population (1 in 83) when compared to the diabetic group (1 in 249). However, this is not statistically significant. S65C heterozygosity occurs with an incidence of 1 in 32 in control individuals and 1 in 124 in the diabetic population. The prevalence of the H63D mutation was similar in both populations. CONCLUSION: For the three haemochromatosis mutations, there was no significant difference between the control group and the diabetic populations.en
dc.description.abstractHereditary haemochromatosis is inherited in an autosomal recessive manner. Two major mutations have been identified and the condition is emerging as one of the most common recessive mutations among subjects of Northern European descendants.-
dc.description.abstractThis study investigated the prevalence of C282Y, H63D and S65C (three mutations of clinical significance for haemochromatosis), in a diabetic and control population from the North West of Ireland.-
dc.description.abstractDNA was extracted from whole blood samples of 249 known diabetics and 249 controls and assayed for the three genetic variants (C282Y, H63D and S65C).-
dc.description.abstractThe incidence for C282Y homozygosity is higher in the control population (1 in 83) when compared to the diabetic group (1 in 249). However, this is not statistically significant. S65C heterozygosity occurs with an incidence of 1 in 32 in control individuals and 1 in 124 in the diabetic population. The prevalence of the H63D mutation was similar in both populations.-
dc.description.abstractFor the three haemochromatosis mutations, there was no significant difference between the control group and the diabetic populations.-
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed?term=19002551en
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshAged-
dc.subject.meshAged, 80 and over-
dc.subject.meshCase-Control Studies-
dc.subject.meshDiabetes Mellitus-
dc.subject.meshFemale-
dc.subject.meshGenotype-
dc.subject.meshHemochromatosis-
dc.subject.meshHistocompatibility Antigens Class I-
dc.subject.meshHumans-
dc.subject.meshIreland-
dc.subject.meshMale-
dc.subject.meshMembrane Proteins-
dc.subject.meshMiddle Aged-
dc.subject.meshPrevalence-
dc.subject.meshYoung Adult-
dc.titleHaemochromatosis gene frequency in a control and diabetic Irish population.en
dc.typeArticleen
dc.contributor.departmentPathology Department, Sligo General Hospital, Sligo, Ireland.en
dc.identifier.journalIrish journal of medical scienceen
dc.description.provinceConnacht-

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