Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

The goal of this project was to identify families with autosomal dominant hypercholesterolemia (ADH) to facilitate early detection and treatment and to provide genetic counselling as well as to approximate the mutational diversity of ADH in Mexico. Mutational analysis of the LDLR and APOB genes in 62 index cases with a clinical and/or biochemical diagnosis of ADH was performed. Twenty-five mutations (24 LDLR, 1 APOB) were identified in 38 index cases.

Types and frequencies of hemoglobin disorders in the pacific coast of four states of Mexico.

Introduction: Hemoglobin disorders are classified into three main groups: structural variants, thalassemias (thal) and hereditary persistence of fetal hemoglobin (HPFH). OBJECTIVE. This study describes the types and frequencies of hemoglobinopathies from four states of the Pacific coast of Mexico (Jalisco, Colima, Nayarit and Michoacan).

Genetic relationship of a Mexican Afromestizo population through the analysis of the 3' haplotype of the beta globin gene in betaA chromosomes.

We analyzed 112 beta(A) chromosomes from the Costa Chica region, with the aim of determining the 3' haplotype (3'Hp) in Afromestizo individuals and its relationship with the reported populations. Thirty polymorphic sites were identified by sequencing and two by restriction fragment length polymorphisms. Genetic variability, genetic distances and neutrality tests were performed with the computer program Arlequin 3.

Molecular characterization of the--SEA alpha thalassemia allele in Mexican patients with HbH disease.

Alpha-Thalassemia is one of the most prevalent hemoglobin disorders in the world, in South-East Asians, the --SEA allele is widely found in the HbH disease patients. The purpose of this work is to describe the molecular characteristics of Hemoglobin H disease in three patients from two Mexican families, as well to analyze the DNA sequence of the --SEA allele to determine the precise site of the crossover. The -alpha 3.

Prevalence of -alpha(3.7) and alpha alpha alpha(anti3.7) alleles in sickle cell trait and beta-thalassemia patients in Mexico.

The aim of this study was to determine the frequency of alpha-globin gene mutations in three groups of Mexican unrelated individuals. The first two groups were normal and sickle cell trait individuals from the Costa Chica region, a place with a 12.8% frequency of HbS carriers, and the third group comprised of Mexican mestizo patients with beta-thalassemia.

3' haplotypes of the beta-globin gene in beta(S)-chromosomes of Mexican individuals.

The beta-globin gene cluster has shown high polymorphic diversity organized in 5' and 3' haplotypes (Hps). beta(S)-Chromosomes are in linkage disequilibrium with the 5' Hps Bantu, Benin, Senegal, Cameroon, and Arab-Indian. In Mexican mestizos with African west coast origins, we observed the following 5' Hps in beta(S)-chromosomes: Bantu, 78.

Molecular spectrum of beta-thalassemia in the Mexican population.

Beta-thalassemia (beta-thal) is present in 59% and 75% of patients with abnormal hemoglobin disorders in northwestern and central Mexico, respectively. In our Research Center, up until 1997, we reported the presence of 13 beta-thal alleles in 26 unrelated chromosomes (-28A>C; -87C>T; MET1VAL; IVS1, G>A, +1; IVS1, G>A, +5; IVS1, G>C, +5; IVS1, G>A, +110; IVS2, C>G, +745; GLU6FS; VAL11FS; GLN39TER; HBD/HBB 104 kb del; and HBD87/HBB116 fusion). Since then, 57 more beta-thal chromosomes have been identified by the amplification-refractory mutation system (ARMS) and DNA sequencing from 54 individuals with beta-thalassemia (seven compound heterozygotes, three with two beta-thal alleles, three with beta-thal and HbS, and one with beta-thal and HbD; and 47 beta-thal heterozygotes).

Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis.

Twenty-seven families and four individual patients with hereditary spherocytosis (HS) from the northwestern region of Mexico were studied. An autosomal dominant inheritance pattern was identified in 59% of 22 families. Densitometric analysis of erythrocyte membrane proteins revealed individual protein deficiencies in 39% of the patients studied, in whom the principal altered proteins were the alpha spectrins (13%), band 3 protein (10%), ankyrin (6%), 4.

Analysis of betaS and betaA genes in a Mexican population with African roots.

To investigate the origin of the beta(A) and beta(S) genes in a Mexican population with African roots and a high frequency of hemoglobin S, we analyzed 467 individuals (288 unrelated) from different towns in the states of Guerrero and Oaxaca in the Costa Chica region. The frequency of the sickle-cell trait was 12.8%, which may represent a public health problem.