0000000001056832
AUTHOR
M. L. Cabello
Sensibilidad, especificidad y valor predictivo del análisis genético de variantes en el gen SLC3A1 aplicado al diagnóstico de cistinuria en población española
Objetivo Estimar la validez clinica del analisis de las mutaciones puntuales R452W, M467T, 114C > A, 231T > A, 1136 + 3delT y 1332 + 7T > C en el gen SLC3A1, asi como de sus posibles haplotipos aplicados al diagnostico de cistinuria en poblacion mediterranea espanola. Material y metodos Se han estudiado 48 pacientes con cistinuria, 44 familiares sin cistinuria y 81 controles sanos. Se realizo un analisis genetico para la identificacion de variantes en el gen SLC3A1. Se calculo la sensibilidad, especificidad y valor predictivo para cada variante genetica y para los posibles haplotipos. Resultados La especificidad de las mutaciones M467T, R452W y 231T > A aplicadas al diagnostico de cistinuri…
Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes
Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids, leading to kidney stone formation. Incidence of cystinuria in the Mediterranean Spanish population is one of the highest in the world. In view of the low prevalence of previously reported mutations in the SLC3A1 gene, analyses to identify novel variants were carried out on 20 cystinuria families. Additionally, we investigated the possible association between these molecular variants and clinical phenotypes. Genomic DNA from 48 cystinuria patients, 44 healthy relatives and 81 unrelated controls from the East Mediterranean coast of Spain was screened by conformation …
Association between M467T and 114 C--A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.
Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids. Formation of renal calculi, recurrent infections and renal failure are the main complications of this disease. The SLC3A1 gene, which codes for a dibasic amino acid transporter protein, is involved in the pathogenesis of cystinuria. We investigated the possible association between molecular variants (M467T, E483X, T216 M and 114 C--A) within the SLC3A1 gene and some phenotypical traits in a Spanish area. The study population consisted of 45 cystinuria patients, 42 cystinuria relatives and 81 healthy control subjects. Only the M467T mutation was found in chromosomes…
Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin
A novel approach that combines information provided by the metabolism of pteridines and that of phenylalanine has been applied to the detection of heterozygotes for phenylketonuria. Phenylalanine, tyrosine, biopterin and neopterin have been measured in serum from normal controls and heterozygotes for classical phenylketonuria, before and after a phenylalanine oral load. Significant differences in neopterin and biopterin mean values in fasting serum and in the mean increase of biopterin induced by the phenylalanine load were found between groups. Inclusion of pteridine data in the discriminant analysis significantly improved the resolution of the classical phenylalanine loading test for the …