How to deal with genetic abnormalities
Written by:There are couples who use assisted reproduction centers for their risk of having affected offspring for some serious hereditary disease.
The human genome is like a composite of different books ( chromosomes) and turn these books for library pages full of information (genes ). A poorly structured sentence in a page can lead to changes in the interpretation of the book and that is exactly what happens in the GENE monkey disease: the alteration of a gene results in alteration of biological processes and, consequently, to a disease.
Each individual inherits two copies of each gene, one from the father and one from the mother. The probability of having a child affected will depend on the type of disease and hereditary performance of this. In the case of monogenic diseases, there are two types of inheritance :. Dominant and recessive
In the key (eg, Huntington's disease, osteogenesis imperfecta,&hellip ;), and being a single parent affect the probability of having a child affected is 50 %.
In the recessive (for example, cystic fibrosis, Duchenne muscular dystrophy, anemia Falconi,&hellip ;), and being the two carriers, the probability of having a child affected is 25% <. / p>
Thanks to the techniques of in vitro fertilization and ( DGP ) infected or affected by a monogenic disease couples have the opportunity to have children free of disease.
According to Law 14/2006 on assisted human reproduction techniques PGD is a technique that can be used to“ the detection of serious hereditary diseases, early appearance and not amenable to curative treatment postnatal under current scientific knowledge, to carry out the selection of non- embryonic pre-embryos for transfer affections”. That means that you can only do PGD and selection of healthy embryos for serious diseases that currently have no cure.
The couple should be given genetic counseling and make a study of informativeness for a correct diagnosis of embryos. Next, the couple must undergo IVF treatment. To study the embryos need to remove a cell from each well and analyzed the genetic content of this. Once the cells analyzed, healthy embryos for later use, either transfer to the uterus of the mother or freezing are selected.
From the first pregnancy in Spain in 1994 after DGP, are many couples who have benefited from this technique In August 2008 I was born the first girl in our free country of Osteogenesis Imperfecta -. Known as&disease ldquo, brittle bone” - Thanks to the work of CREA in collaboration with genetic research center genomic systems
.