The cloning and sequencing of the G6PD gene has opened a new chapter in the characterization of the numerous G6PD variants described. Many which were thought to be different on the basis of their kinetic properties, are really the same whereas heterogeneity has been found in some which were thought to be homogeneous. We discuss with some detail variants A+, A- and the Mediterranean type.

Blood Protein Electrophoresis↗

PubMedDate not supplied

[Genetic disorders in sexual differentiation in humans].

Explore the source record for details and available documents.

Animals↗

PubMedDate not supplied

[The Philadelphia chromosome 30 years later].

We review the changing concepts regarding the nature of the Ph chromosome during the last thirty years. The role of molecular biology techniques in its identification are discussed as well as its present status in the diagnosis, prognosis and management of chronic myelogenous leukemia and acute lymphoblastic leukemia.

Chromosome Aberrations↗

PubMedDate not supplied

[Human genetics in Mexico].

Explore the source record for details and available documents.

Cytogenetics↗

PubMedDate not supplied

[Risk factors associated with neural tube defects: exposure during the first trimester of gestation].

The neural tube defects (NTD) are a group of malformations of multifactorial etiology. Their high incidence in Mexico and the etiologic heterogeneity observed in several studies, prompted the present investigation with the main objective of looking for risk factors associated to NTD. We analyzed maternal exposure during the first trimester of pregnancy to different environmental factors, such as acute or chronic illnesses, immunizations, smoking, alcoholism, maternal or paternal occupation and exposure to chemicals. The sample include 360 patients with anencephaly, 249 with spina bifida and 44 with encephalocele, ascertained from a total of 230 635 live births and 4,020 stillborns, studied in the Mexican program of Registro y Vigilancia Epidemiológica de Malformaciones Congénitas Externa. Of the risk factors considered, significant differences with the control group were found for anencephaly in relation to maternal viral upper respiratory infection, hyperthermia, ingestion of analgesics, antiemetics and paternal occupation. In the case of spina bifida, significant differences were found only for viral upper respiratory infections.

Female↗

PubMedDate not supplied

[Usefulness of chromosomal heteromorphisms obtained by G-banding for identification of illegitimacy].

The present paper investigates the use of G-bands chromosome heteromorphisms for illegitimacy testing. We studied both parents and 171 of their children in 80 families utilizing the material, in addition, to establish the procedures sensitivity. The results showed that one (0.6%) of the 171 children studied was illegitimate, which was much lower than the figure of 6.7% obtained in a similar population studied with three blood group systems and three serum genetic markers. We could show that the low efficiency of the G-band heteromorphisms is at least partially due to its low sensitivity, 27% as compared to 60% obtained with the other genetic markers.

Adult↗

PubMedDate not supplied