Chavarría-Olarte ME, Araujo-Solís MAJ, Cortés-Ortiz E, González-Valencia J

Language: Spanish
References: 72
Page: 188-193
PDF size: 53.81 Kb.

ABSTRACT

The knowledge that has arisen from the study of the genome will contribute to elucidate how our genome varies among patients cohorts, as well as the importance of this variations in the development of various illnesses, and in the pharmacological response. The genes number reported for the human being is approximately 30,000, and it has been found that the human genetic diversity is given by a variation of less than 0.1% in the nucleotides code of the genome. There are now various examples in woman’s health, in which DNA variations as single nucleotide polymorphisms, have implications in clinical investigation as well as in medical practice. The polymorphism in the methylenetetrahydrofolate reductase enzyme rises the risk for vascular diseases, including cerebral-vascular accidents, thromboembolia and preeclampsia. On the other hand, the polymorphisms in the estrogens a-receptor gene have been associated with osteoporosis, breast and endometrial cancer, coronary disease, endometriosis, Alzheimer disease, rheumatoid arthritis, ovarian stimulation, and menopause start. Preeclampsia is a pathology in which the role of the genome has been particularly difficult to elucidate, due to its multiple etiology and its phenotype variability. The role of recessive maternal genes has been proposed, as well as the fetal transmission of a paternal gene. The existence of a susceptibility locus regulated by fetal or environmental influences, has also been stated. The advances in the study of the human genome will favor the development of new therapeutic tools for these and other diseases.

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