RESUMO
OBJECTIVE: The purpose of this study was to determine the ß-globin cluster haplotype variability of two Mexican indigenous groups-Purepechas (PUR) and Tarahumaras (TAR)-and their relationship with other world populations. METHODS: The 5' and 3' haplotypes (Hp) of the ß globin cluster in 71 PUR and 53 TAR individuals were analyzed. Five polymorphisms in the 5'Hp (ε, (G) γ, (A) γ, 5'ψß and 3'ψß) and five in the 3'Hp (IVS2: 16, 46, 74, 81 and 3' end +339) were identified by restriction enzymes and direct DNA sequencing. 5'Hp and 3'Hp frequencies in PUR and TAR were compared with reported frequencies from 47 and 10 worldwide populations, respectively. RESULTS: Sixteen different 5'Hps were observed in the indigenous Mexican groups, 11 in each population, with the most common being 5'Hp 1. Eight 3'Hps were detected, seven in PUR and six in TAR, the most frequent being 3'Hp C. Three new 3'Hps were found, A8 (CTGCT) in both populations, C9 (GTGCA) in TAR and E1 (GTTCT) in PUR. The comparative analysis showed that 5'Hp frequencies in PUR were significantly different than those in all populations except the Brazilian-Guarani, while TAR were significantly similar to Aché and North Han Chinese. 3'Hp frequencies were similar between PUR and TAR, as well as with Nuu-Chah-Nulth, Mongolian and Sumatran populations. CONCLUSIONS: The 5'Hp analysis showed great variability in worldwide populations, including PUR and TAR, while 3'Hp frequencies were similar among indigenous Mexican and other populations with Asiatic origins. This suggests that 5'Hp exposes the microevolutionary process of each population and the 3'Hp establishes genetic relationships among populations.
Assuntos
Frequência do Gene , Polimorfismo Genético , Globinas beta/genética , Haplótipos , Humanos , México , Globinas beta/metabolismoRESUMO
The haplotypes of 97 beta(A) independent chromosomes from a Mexican Huichol Native American group were analyzed. The analysis also included 87 beta(A) chromosomes from a Mexican Mestizo population previously studied. Among Huichols, eight different 5' beta haplotypes (5Hps) were observed, with types 1(+ - - - -), 13(+ + + - +) and 2(- + + - +) at frequencies of 0.794, 0.093, and 0.041, respectively. In Mestizos, 17 5Hps were found, types 1, 3(- + - + +), 2, 5(- + - - +) and 9(- - - - -) being the most common at frequencies of 0.391, 0.172, 0.092, 0.069, and 0.046, respectively. 3' haplotype (3Hps) frequency distributions were 0.443(+ +), 0.083(+ -), and 0.474(- +) in Huichols and 0.563(+ +), 0.149(+ -), and 0.287(- +) in Mestizos. Pairwise comparison for both haplotype distributions between the two populations showed significant differences. Pairwise distributions of 3Hps for Huichols were compared with nine worldwide populations, three African, two Asian, two Melanesian, one Caucasian, and one United States Native American. The distributions of the Huichol were different (P < 0.05) from all populations except the Native American. Nei's genetic distances showed the Huichols to be closer to the Native Americans, followed by Melanesians from Vanuatu and Asians; Africans were the farthest. The 5Hp distributions in Mexicans were also compared with 23 worldwide populations (including African, Native American, Asian, Caucasian, and Pacific Islanders). Huichol distributions were different (P < 0.05) from all other populations except Koreans. The Mestizo distribution was also different from the others, except three Caucasian groups. Nei's genetic distance between the same populations disclosed that the Huichols are in relatively close proximity to five out of six Asian populations considered. The same analysis with grouped worldwide populations showed Native Americans as population closest to the Huichols, followed by Pacific Islanders and Asians. Present observations are consistent with an important Asian contribution to the Huichol genome in this chromosomal region. Am. J. Hum. Biol. 12:201-206, 2000. Copyright 2000 Wiley-Liss, Inc.
RESUMO
Twenty-five individuals were studied from four unrelated Mexican Mestizo families with Hb D-Los Angeles. We observed five compound heterozygotes: four for Hb S and Hb D, and one for Hb D and beta-thalassemia (beta(0) 39 nonsense mutation); 16 heterozygotes: four for Hb S, seven for Hb D, and five for beta-thalassemia, while the remaining four were normal. The four Hb S/Hb D patients had severe hemolytic anemia, while in the Hb D/beta-thalassemia patient, the anemia was similar to that of a beta-thalassemia heterozygote; therefore, Hb D is clinically harmful when it is associated with Hb S. The beta(S) chromosomes were associated with the Benin haplotype in two families and Bantu in one family, while the beta(D) and beta(0) 39 mutations were associated with haplotype 1 [+ - - - - + +]. The Bantu and Benin haplotypes have been found with high frequency in Hb S individuals from the East Coast and Northwestern Mexico. The beta(D) chromosomes from Italy were also shown to be associated with haplotype 1, the most frequently observed haplotype in the world; there are no haplotype studies on beta(D) chromosomes from India or China where Hb D-Los Angeles is most common. Thus, the true origin of this mutation observed in these Mestizo families remains to be elucidated.
Assuntos
Hemoglobina Falciforme/genética , Hemoglobinas Anormais/genética , Indígenas Norte-Americanos/genética , Talassemia beta/genética , Adolescente , Idoso , Alelos , Anemia Hemolítica/etnologia , Anemia Hemolítica/genética , Criança , Pré-Escolar , Genótipo , Doenças Hematológicas/etnologia , Doenças Hematológicas/genética , Testes Hematológicos , Heterozigoto , Humanos , México/epidemiologia , MutaçãoRESUMO
OBJECTIVE: To identify by molecular biology the alleles of alpha-Thal in selected hospital populations. METHODS: Eighteen propositi with hematological and biochemical data suggestive of alpha-thalassemia, selected from 356 patients of four hospitals in two cities with probable hemoglobinopathy were investigated for six common alpha-Thal alleles. Molecular studies were done by PCR and digestion with specific restriction enzymes. RESULTS: The alpha 3.7 allele was identified in two cases and the family study revealed the same allele in the mother; HbS heterozigocity was also detected in one of them. An analysis with Apa I demonstrated a class I deletion in both patients. The present study showed 2/356 (0.6%) of alpha 3.71 carriers which is a low frequency as compared with other countries. As no other common alpha-thalassemia alleles were found, we suspect that alpha-Thal in Mexico is as heterogeneous at a molecular level as beta-Thal.
Assuntos
Talassemia alfa/epidemiologia , Criança , Pré-Escolar , Feminino , Globinas/genética , Humanos , Lactente , Masculino , México/epidemiologia , Talassemia alfa/genéticaRESUMO
Two Mexican mestizo families with Hb Lepore Washington-Boston are described. One family is from Cordova, in the State of Veracruz, in the East coast of Mexico: the proband is a 44-year old asymptomatic male with italian ancestors; the other family is from the city of Durango, State of Durango, in the northwestern part of the country: the propositus is a 32-year old pregnant female with French ancestors. In both cases the Hb Lepore was identified by alkaline electrophoresis and characterized by high performance liquid chromatography and PCR with specific probes flanking the deletion frame. The beta-haplotype in both families was +(-)-(-)-(++), the commonest beta-haplotype reported with this mutation. This paper describes the first cases of this entity in Mexico.
Assuntos
Globinas/genética , Hemoglobinas Anormais/análise , Talassemia beta/genética , Adulto , Eletroforese das Proteínas Sanguíneas , Criança , Feminino , França/etnologia , Frequência do Gene , Haplótipos/genética , Hemoglobinas Anormais/genética , Heterozigoto , Humanos , Indígenas Norte-Americanos/genética , Itália/etnologia , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Gravidez , Complicações Hematológicas na Gravidez , Deleção de Sequência , População Branca/genética , Talassemia beta/sangue , Talassemia beta/etnologiaRESUMO
B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean alleles [five codon 39 C-->T; two IVS1:1 G-->A; two IVS1:5 G-->A; three IVS1:110 G(A; one codon 11 (-T) and three (deltabeta)zero-thal]; the remaining four were linked to three rare alleles (two -28 A-->C and one each: -87 C-->T and initiation codon ATG-->GTG). Among the 87 beta(A) chromosomes, 17 different 5' haplotypes with frequencies for 1, 3, 2 and 5 of 39.0%, 17. 2%, 9.2% and 6.9%, respectively, were observed. The beta-haplotype analysis showed that 13 out of 16 Mediterranean chromosomes could easily be explained by gene migration; however, one codon 39 associated with haplotype 4 (----+ +-), one IVS1:1 with haplotype 1(+----++) and one IVS1:5 G-->A, may represent separate mutational events. Analysis of the rare alleles showed that the -28 A-->C mutation was associated with the commonest beta(A) haplotype in Mexican mestizos, Mediterraneans and the total world population; therefore an independent origin cannot be ruled out. The -87 C-->T and initiation codon ATG-->GTG were found with beta-haplotypes different from the reported ones, suggesting an indigenous origin.