Alterações genéticas em casais com antecedentes de aborto recorrente no primeiro trimestre da gestação / Genetic alterations in couples with a history of recurrent miscarriage in the first trimester of pregnancy

O abortamento é considerado um problema multifatorial, cujas principais causas envolvidas na sua etiologia são os fatores ambientais (como exposição a substâncias tóxicas), genéticos, anatômicos, endócrinos, imunológicos, trombofílicos e doenças infecciosas (como toxoplasmose, rubéola). No entanto, os fatores genéticos são atribuídos principalmente aos abortamentos de primeiro trimestre da gestação. As alterações cromossômicas, o polimorfismo C677T, no gene da metilenotetrahidrofolato redutase (MTHFR677C>T); o polimorfismo G1691A, no gene do Fator V de Leiden (FVL1691G>A), e o polimorfismo G20210A, no gene da protrombina (PRT20210G>A), têm sido associados a problemas obstétricos, incluindo aborto recorrente. O objetivo deste trabalho foi investigar associação entre as mutações relacionadas à trombofilia, presença de alterações cromossômican e a ocorrência de aborto espontâneo recorrente e avaliar possíveis interações entre as referidas mutações e as alterações cromossômicas. A casuística foi composta por 151 mulheres com história de aborto recorrente, 94 parceiros e 100 controles (mulheres sem histórico de aborto). A investigação das mutações foi realizada pela técnica de Reação em Cadeia da Polimerase- Polimorfismo de Tamanho de Fragmento de Restrição. As alterações cromossômicas foram investigadas pela cariotipagem com banda–G. A frequência das alterações cromossômicas foi de 7,3% nas mulheres com abortamento recorrente e 1% nos controles (p=0,022), e de 2,1% nos parceiros. No entanto, a frequência dos alelos MTHR677C>T (23% versus 22,5%), FVL1691G>A (1,5% versus 1% ) e PRT20210G>A (1,45% versus 0%) foi similar entre casos e controles, respectivamente. No grupo investigado, foi observada associação entre aborto recorrente e alterações cromossômicas, mas não foi encontrada associação com os polimorfismos gênicos investigados.

Abortion is considered a multifactorial problem, the most important causes involved in its etiology are, environmental factors ( as exposure to toxic chemicals), genetic, anatomic, endocrine, immunological, thrombophilic and infectious diseases (such as toxoplasmosis, rubella). However, genetic factors are mainly attributed to abortions of the first trimester of pregnancy. Chromosomal abnormalities, MTHFR 677C>T, factor V Leiden 1691G>A and prothrombin 20210G>A mutations have been associated with obstetric problems, including recurrent miscarriage. The objective of this research was to investigate associations between mutations in three genes commonly associated to thrombophilic events, chromosomal abnormalities and the occurrence of recurrent miscarriage. As well evaluate possible interactions between these mutations and chromosomal abnormalities. The sample was comprised of 151 women with history of recurrent miscarriages, 94 partners and 100 control (women with no history of abortion). The investigation of the mutations was performed by Polymerase Chain Reaction (PCR)/ Restriction Fragment Length Polymorphism (RFLP). Chromosomal aberrations were investigated by karyotyping with G-banda. The frequency of chromosomal abnormalities was 7.3% in women with recurrent miscarriage and 1% in controls (p = 0.022), and 2.1% in the partners. However, the frequency of allele MTHR677C> T (23% versus 22.5%), FVL1691G> A (1.5% vs. 1%) and PRT20210G> A (1.45% vs. 0%) was similar for cases and controls, respectively. In the investigated group was found association between recurrent miscarriage and chromosomal abnormalities, but no association was found with the genetic polymorphisms investigated.

A preliminary report on effect of pulsed magnetic fields on fresh water fish (Labeo rohita) chromosomes.

Marine-life scientists around the world are already carrying out investigative trials to obtain higher yields under in-captive breeding conditions, on both edible varieties and ornamental fishes with optimal inputs. However, for such trials to succeed there is a need for genetic improvement. The idea that fish production can be enhanced by genetic manipulation is gaining acceptance, as there is a strong possibility that qualitative improvement of economically important traits can be achieved by identifying and utilizing more effective genotypes. In the present communication a tentative plan for genetic manipulation of fresh water fish using controlled, pulsed magnetic fields, is being discussed. Chromosome preparations of Labeo rohita were made using Colchicine-Methanol-Acetic acid air drying technique, using tissue from gills. The fish were exposed to Pulsed Magnetic Field (PMF)with intensity 0.2 Gauss, pulsing at 50 Hz frequency (sine wave) for 6 hours / day for a total period of 30 days inside specially designed magnetic field enclosures. The karyological investigations revealed no distinct difference between "test" and "control" groups.

Efectos de la radiación ultravioleta A y B sobre linfocitos humanos / Effects of A and B ultraviolet irradiation over human lymphocutes

Over the last decade, agreter decrease in the ozone level has occurred in the Southern Hemisphere. For each 1 per cent decrease in this level, a 2 per cent increase in biologically effective radiation occurs. Aiming to evaluate the biological effect produced by UV radiation, 10 blood samples coming from patients consulting for reproductive problems, were irradiated with visible and ultraviolet radiation A (treatment A) and visible and ultraviolet radiation B (treatment B) during 1 to 5 minutes. This dosage is comparable to the radiation received in Santiago at 13:00 h in a summer day. After irradiation, lymphocytes were cultured during 72 h and the number of altered metaphases was quantified. There was a significant increase in chromosomal alterations with treatment A (2.61, 2.43, 4.53 and 3.53 at 1, 2, 3 and 5 min respectively) and treatment B (3.06, 3.81, 3.3, 5.51, at 1, 2, 3 and 5 min respectively) compared with non-irradiated controls (0.8 and 0.72). There was a reduction in mitotic indices in irradiated cells. It is concluded that both types of UV radiation (A and B) produce chromosomal alternations in vitro, even using lower doses than those received during summer in the central region of Chile

Distribution pattern and dose-response-relationship of chromosome aberrations in human lymphocytes induced in vitro by 60Co gamma-rays and 110 kV X-rays.

Peripheral blood lymphocyte culture system was used to construct reference dose-response curves for 60Co gamma-rays and 110 kV X-ray-induced chromosome aberrations at 6 dose points ranging from 0.25 to 4.0 Gy. Qualitative and quantitative differences between these two types of radiation for the yield of induced aberrations and their distribution pattern were analysed. Experimental data of aberration yields were compared after fitting them to five different dose-response models. The yields of chromosome aberrations in particular dicentrics, gave a good fit to linear-quadratic besides linear and power models. In this model, single-track events predominated over double-track events for both the qualities of radiation used. The pattern of distribution was mainly Poisson for dicentrics but gave a conflicting result for acentrics which was in excess.