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1.
Arch Med Res ; 45(3): 257-62, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24656905

RESUMO

BACKGROUND AND AIMS: Fabry's disease (FD) is an X-linked lysosomal disorder caused by a deficiency of the enzyme α-galactosidase A that produces accumulation of glycosphingolipids with clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system. We undertook this study to describe the molecular characteristics of the first four Mexican patients with diagnosis of FD with significant renal involvement, correlating these molecular characteristics with clinical, pathological and biochemical findings. METHODS: Genomic DNA from Mexican nonrelated patients with presumptive diagnosis of FD was sequenced by polymerase chain reaction (PCR). DNA sequences were compared against sequences in world data bank gene for alpha-galactosidase A (α-GLA, ENSG00000102393) using the BLAST database. RESULTS: Three patients were confirmed as having FD by displaying mutations in the α-GLA gene. The mutations found are a substitution (p.L243 F) in patient 1, and a substitution (p.A156 V) in patient 3. These two mutations had been previously reported. The new mutation was in patient 2 who displayed a deletion (c.260delA) changing the open reading frame from codon 86 and a stop codon at the 105th residue of the protein, (instead of 429 AA). The fourth patient had lack of mutations in any of the seven exons of α-GLA or 25 base-pair flanking regions; had mild manifestations with kidney histopathological diagnosis of FD that gave us a final diagnosis of atypical phenotype of FD. CONCLUSIONS: Although the sample is small, it gives a first idea of the molecular and clinical heterogeneity of FD in a Mexican population.


Assuntos
Doença de Fabry/genética , alfa-Galactosidase/genética , Adulto , Sequência de Bases , Criança , Códon , Éxons , Doença de Fabry/fisiopatologia , Feminino , Humanos , Nefropatias/fisiopatologia , Masculino , México , Mutação , Linhagem , Fenótipo , Adulto Jovem
2.
Rev Invest Clin ; 63(6): 614-20, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-23650674

RESUMO

OBJECTIVE: The goals of this population genetics study were to describe mtDNA haplogroups and ABO and Rh blood group systems of 3 Native Mexican populations, to determine their genetic variability, and to compare their haplogroups with those of 13 Native Mexican populations previously reported. MATERIAL AND METHODS: The three communities under analysis were a Tepehua-speaking community from Huehuetla (Hidalgo state), an Otomi-speaking community from San Antonio el Grande (Hidalgo state), and a Zapotec-speaking community from Juchitán (Oaxaca state). Every subject studied in each community had four grandparents who were born in the same community and spoke the same language. The four Amerindian mtDNA haplogroups (A, B, C and D) were studied by restriction analysis and gel electrophoresis. RESULTS: Regarding the blood groups, the O group was the most frequent in the three populations (97.2, 94.7, and 86.2%, respectively), as well as the Rh+ group (100, 100, 84%). The three populations analyzed were in Hardy-Weinberg equilibrium. In respect to the mtDNA haplogroups, A, B, C and D, their percentage was 33.3, 36.1, 13.9 and 5.6 % in Huehuetla; 39.5, 13.2, 39.5 and 2.6 % in San Antonio el Grande, and 55.3, 21.0, 7.9 and 5.2 % in Juchitán. Between 5 and 11% of the haplogroups were of non-Amerindian origin, probably due to admixture with Caucasian and African populations, as has been reported in the past. No statistically-significant differences were found among the three populations studied or between them and 13 previously reported Native Mexican populations.


Assuntos
Sistema ABO de Grupos Sanguíneos/genética , DNA Mitocondrial/genética , Etnicidade/genética , Indígenas Norte-Americanos/genética , Sistema do Grupo Sanguíneo Rh-Hr/genética , África/etnologia , Alelos , População Negra/genética , Europa (Continente)/etnologia , Feminino , Frequência do Gene , Haplótipos , Humanos , Indígenas Norte-Americanos/classificação , Idioma , Masculino , Casamento , México , População Branca/genética
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