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1.
BMC Med ; 16(1): 159, 2018 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-30143037

RESUMO

The original article [1] contains errors in Table 1 affecting some of the presented oligonucleotide sequences and readthrough values in Table 1.

2.
Hum Biol ; 77(5): 705-14, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16596947

RESUMO

The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype characterization. Numerous studies have reported considerable variations in frequencies of CF transmembrane conductance regulator (CFTR) mutations in different populations, such as African, Asian, or European populations. To completely characterize the spectrum of mutations in the CFTR gene in the Réunion Island population, we screened 228 CF chromosomes using denaturing high-pressure liquid chromatography and denaturing gradient gel electrophoresis following by direct sequencing. We identified 27 mutations, accounting for 93% of CF chromosomes. They included three novel mutations (M1T, 3121-3C-->G, and L1324P), which are described in this paper. The detection of such a high proportion of Réunion Island CFTR mutations is important for improving neonatal screening of CF on Réunion Island.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Genética Populacional , Triagem Neonatal , Polimorfismo Genético , Fibrose Cística/diagnóstico , Humanos , Recém-Nascido , Mutação , Reunião
3.
Arch Pediatr ; 9(1): 14-20, 2002 Jan.
Artigo em Francês | MEDLINE | ID: mdl-11865543

RESUMO

BACKGROUND: Fetal alcohol syndrome (FAS) is a major problem in the Reunion Island and the Public Health Authorities decided to determine its prevalence in their medico-social centers on 31 December 1996. MATERIAL AND METHODS: A questionnaire was established to identify affected patients in the 20 medico-social centers in charge of 1320 children. Eighty-eight children were selected and 87 could be analyzed. RESULTS: Sixty-four of 87 (76.3%) were FAS and 23 of 87 (23.7%) had closely alcohol-related diseases. The prevalence was between 7.1 and 14.1% and lower than expected from available data. CONCLUSION: The study allowed to precise the social and familial factors predisposing to alcohol addiction during pregnancy. A TV prevention message will be broadcasted after this study.


Assuntos
Transtornos do Espectro Alcoólico Fetal/epidemiologia , Adolescente , Adulto , Fatores Etários , Alcoolismo/prevenção & controle , Peso ao Nascer , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/prevenção & controle , Educação em Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Complicações na Gravidez/prevenção & controle , Prevenção Primária , Reunião/epidemiologia , Fatores Socioeconômicos , Televisão
5.
J Chromatogr ; 297: 333-7, 1984 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-6490765

RESUMO

In order to separate haemoglobin variants in one step, a chromatographic method using Mono S (Pharmacia) monodisperse cation exchanger was developed The separation of haemoglobins (A, S, E, D, C and F) on a short analytical column (50 X 5 mm I.D.) was accomplished in 30 min, including the regeneration, using linear buffer gradient elution (lithium chloride in 0.01 M sodium malonate, 0 to 100%). For haemoglobin A, two peaks, probably corresponding to different molecular forms, were found. This systematic double peak affected the recognition and the measurement of haemoglobins. By filling the test-tube with carbon monoxide before injecting the haemolysate, we obtained reproducible results with regard to both retention times and peak shape, and also great stability. The long-term stability and the high speed of the separation seem to be adequate for automation, making the method suitable for routine clinical laboratory-use.


Assuntos
Hemoglobinas/isolamento & purificação , Eletroforese das Proteínas Sanguíneas , Monóxido de Carbono , Resinas de Troca de Cátion , Fenômenos Químicos , Química , Cromatografia por Troca Iônica , Eletroforese em Acetato de Celulose , Hemoglobinopatias/sangue , Humanos
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