Lactose intolerance genetic testing: is it useful as routine screening? Results on 1426 south-central Italy patients.
Clin Chim Acta
; 439: 14-7, 2015 Jan 15.
Article
em En
| MEDLINE
| ID: mdl-25281930
ABSTRACT
Adult-type hypolactasia is a widespread condition throughout the world, causing lactose malabsorption. Several studies suggested that the identification of C/T-13910 and G/A-22018 mutations, located upstream the gene encoding the lactase-phlorizin hydrolase (LPH), is a useful tool for the differential diagnosis of hypolactasia. We evaluated the frequencies of C/T-13910 and G/A-22018 variants in a central-south Italian population and the usefulness of lactase deficiency genetic testing in the clinic practice. The genomic DNA of 1426 patients and 1000 healthy controls from central-south Italy was isolated from peripheral whole blood and genotyped for the C/T-13910 and G/A-22018 polymorphisms by high-resolution melting analysis (HRMA) and sequencing. The frequencies of genotypes in the 1426 patients analysed were as follows 1077 CC/GG (75.5%), 287 CT/GA (20.1%), 24 TT/AA (1.7%), 38 CC/GA (2.7%). Only 64 out of 1426 (4.5%) performed also L-BHT test, 29 of which were negative for L-BHT also in presence of different genotypes. Among the 35 individuals with L-BHT positive, 34 were CC/GG and only one CT/GA. Although lactose genetic test is a good predictor of persistence/non-persistence lactase in specific population, its use in the central-south Italy population should be limited given the high prevalence of the CCGG diplotype in normal individuals.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Intolerância à Lactose
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Teste de Tolerância a Lactose
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
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Screening_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Humans
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Infant
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Clin Chim Acta
Ano de publicação:
2015
Tipo de documento:
Article