A new glucose-6-phosphate dehydrogenase variant, Gd(-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia

Lisker, R; Pérez-Briceño, R; Beutler, Ernest

doi:10.1007/bf00295523

Cited by 10 publications

(10 citation statements)

References 8 publications

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“…The findings have been reported previously in the case of Distrito Federal (Lisker et al 1981), Castilla (Lisker et al 1977), and Tepic (Lisker et al 1985). We were able to obtain another blood sample from the propositus of G6PD Castilla to repeat the characterization that had originally been reported in 1977.…”

Section: Biochemical Characterization Of Variantssupporting

confidence: 84%

“…Biochemical characteristics and sequence analysis of three glucose-6-phosphate dehydrogenase (G6PD) variants from Mexico. The biochemical properties are from previous publications (Lisker et al 1977(Lisker et al , 1981(Lisker et al , 1985 G6PD Distrito Federal G6PD Tepic G6PD Castilla G6PD Castilla-repeat a Vita et al 1989). Identical variants, originally thought to be distinct on the basis of biochemical characteristics, have even been found among unrelated patients with nonspherocytic hemolytic anemia due to G6PD deficiency.…”

Section: Discussionmentioning

confidence: 99%

“…The case histories of propositi of G6PD Distrito Federal (Lisker et al 1981), G6PD Tepic (Lisker et al 1985), and G6PD Castilla (Lisker et al 1977) are described in the original publications. The grandparents of the patient with G6PD Distrito Federal were from Mexico City.…”

Section: Patientsmentioning

confidence: 99%

“…We have now had the opportunity to examine the DNA of three previously reported G6PD variants from Mexico -G6PD Distrito Federal (Lisker et al 1981), G6PD Tepic (Lisker et al 1985), and G6PD Castilla (Lisker et al 1977) -and find that all three have the common G6PD A -202A/376G genotype. The same genotype was found in two other Mexicans without known African ancestry.…”

Section: Introductionmentioning

confidence: 99%

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Some Mexican glucose-6-phosphate dehydrogenase variants revisited

Beutler

Kühl

Ramírez³

et al. 1991

Hum Genet

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency appears to be fairly common in Mexico. We have now examined the DNA of three previously reported electrophoretically fast Mexican G6PD variants, -G6PD Distrito Federal, G6PD Tepic, and G6PD Castilla. All three of these variants, believed on the basis of biochemical characterization and population origin to be unique, have the G----A transition at nucleotide 202 and the A----G transition at nucleotide 376, mutations that we now recognize to be characteristic of G6PD A-. Two other Mexican males with G6PD deficiency were found to have the same mutation. All five have the (NlaIII/FokI/PvuII/PstI) haplotype characteristic of G6PD A -in Africa. Since the PvuII+ genotype seems to be rare in Europe, we conclude that all of these G6PD A - genes had their ancient origin in Africa, although in many of the Mexican patients with G6PD A -202A/376G the gene may have been imported more recently from Spain, where this variant, formerly known as G6PD Betica, is also prevalent.

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Section: Biochemical Characterization Of Variantssupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Patientsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Some Mexican glucose-6-phosphate dehydrogenase variants revisited

Beutler

Kühl

Ramírez³

et al. 1991

Hum Genet

Self Cite

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“…The one related to the genetic characterization of various indigenous and mixed-race groups through the use of genetic markers, however, was the most important, as it furthered understanding of the genetic structure of the Mexican population and the identification of hemoglobin variants in various indigenous groups (Jones et al 1968;Lisker et al 1972Lisker et al , 1985Lisker 1984).…”

Section: Discussionmentioning

confidence: 99%

Medical Genetics and the First Studies of the Genetics of Populations in Mexico

Barahona

2016

Genetics

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Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts.

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Gene frequencies and admixture estimates in a Mexico City population

Lisker

Pérez-Briceño

Granados

et al. 1986

American J Phys Anthropol

139

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Five hundred and ten students of the Universidad Nacional Autónoma de México were tested to determine the distribution of ABO, MN, Rr-Hr blood groups, and serum haptoglobin, albumin, and Factor Bf types. Based on the results we found that the proportion of Indian and White genes are of 56.16 and 43.84%, respectively in the dihybrid model and 2.93, 56.22, and 40.85% for Blacks, Indians, and Whites in the trihybrid one. The present study reveals a higher proportion of Indian genes in the Mexico City population than estimated in previous publications. Reasons why the present results apply to a much larger group of Mexico City mestizos than the previous ones are given.

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A new glucose-6-phosphate dehydrogenase variant, Gd(-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia

Cited by 10 publications

References 8 publications

Some Mexican glucose-6-phosphate dehydrogenase variants revisited

Some Mexican glucose-6-phosphate dehydrogenase variants revisited

Medical Genetics and the First Studies of the Genetics of Populations in Mexico

Gene frequencies and admixture estimates in a Mexico City population

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