Linked Life Data

11843884

Source:http://linkedlifedata.com/resource/pubmed/id/11843884

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2002-2-14
pubmed:abstractText
The prevalence of eight mutations in 84 patients with beta-thalassaemia major and in 16 subjects with thalassaemia intermedia was investigated. All of the patients were Italian, originating from Eastern Sicily (Messina area) and some Calabrian regions. Genomic DNA was amplified by polymerase chain reaction (PCR). DNA molecular investigations were performed by allele-specific oligonucleotide (ASO) hybridization, to identify the following beta-thalassaemia mutations: CD39 (C-T), IVS1-110 (G-A), IVS1-6 (T-C), IVS1-1 (G-A), IVS2-745 (C-G), IVS2-1 (G-A), -87 (C-G), CD6 A (-A). Our data underline that in thalassemia intermedia two mutations were statistically prevalent: IVS1-6 T-->C (P < 0.001) and CD 6-A (P < 0.05). CD 39 was statistically prevalent in beta-thalassaemia major patients (P < 0.01). The difference between the two groups was not statistically significant for all the other mutations. Five different genotypes were recorded among thalassaemia intermedia and 15 among beta-thalassaemia major patients. Twenty-five percent of the intermedia patients and 4.5% of the major patients had homozygosity for mild mutations (group I); 62.5% of the intermedia patients and 26.2% of the major patients had combinations of mild/severe mutations (group II). In addition, homozygosity or double heterozygosity for severe mutations (group III) was found in 12.5% of the intermedia patients and 69% of the major patients. Some genotypes were restricted to thalassaemia intermedia, including heterozygosity -87/IVS1-6 and IVS1-6/CD 6-A. It is essential to understand the distribution and frequency of the relevant mutations in each population where beta-thalassaemias exist. This is of particular importance for genotype-phenotype correlation and for carrier detection, genetic counselling and prenatal diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0141-9854
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
373-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Molecular analysis of beta-thalassaemia patients in a high incidence area of southern Italy.
pubmed:affiliation
Department of Paediatrics, University of Messina, School of Medicine, Italy. luciana.rigoli@unime.it
pubmed:publicationType
Journal Article