Genetics
Bulletin Nº95 - November 2018
GENETICS - Molecular markers in glioma
Glioma is the most common primary tumor among intracranial malignancies. There is a growing number of biomarkers in glioma in the field of research, but currently in routine three are used: Codeletion 1p / 19q; IDH 1/2 mutation; and Methylation of MGMT.
Bulletin Nº88 - February 2018
GENETICS - TCR Clonality
The T cell receptor (TCR) is a membrane receptor, present in mature T lymphocytes (LT), constituted by two different transmembrane polypeptide chains. The αβ T lymphocytes constitute around 95% of the total circulating T lymphocytes in peripheral blood, and are the best characterized in terms of their biology and functions. Its TCR is a heterodimer consisting of an α and a β chain. The genes that code for each of the chains of the TCR, are formed by a set of different segments that, during the maturation of the LT, unite in a random and irreversible way, through a directed process of somatic recombination of the DNA. The study of the gene rearrangements of the genes encoding the TCR is a marker of clonality and, therefore, of malignancy, ideal in the diagnosis and monitoring of lineage PFS.
Bulletin Nº79 - March 2017
CYTOGENETICS - Mutations in the FLT3 Gene and Acute Myeloid Leukemia (AML)
The FLT 3 receptor is found in the normal hematopoietic precursors of Bone marrow, and plays a key role in cell proliferation and survival. The gene encoding the FLT3 protein is located on chromosome 13 q12, and mutations in this gene occur with a high frequency in AML patients. The most frequent mutation is internal tandem duplication (FLT3-ITD). The most common mutation is internal tandem duplication (FLT3-ITD). This mutation is a poor prognostic factor in AML, and is associated with clinical progression and relapse.
Bulletin Nº74 - October 2016
MOLECULAR BIOLOGY - Apolipoprotein E genotype and Alzheimer's disease
Apolipoprotein E (ApoE) is a protein of 299 amino acids constituted by a single polypeptide chain. ApoE is involved in the transport of cholesterol and other lipids in various tissues. It is the major apolipoprotein expressed in brain tissue, mainly in neuroglia. Polymorphic variations ApoE locus act as inherited risk factors and genetic susceptibility affect Alzheimer's disease.
Bulletin Nº61 - July 2015
CYTOGENETICS - Genetic markers in the myeloproliferative syndromes classification
Myeloproliferative neoplasms (NMP) are clonal disorders of hematopoietic precursor cells, characterized by the proliferation of myeloid or more lines. Classically, the NMP were subdivided according to whether the Philadelphia chromosome (BCR / ABL1), confirming a chronic myeloid leukemia (CML), or if the patient was BCR / ABL1 negative, was detected using clinical criteria. Currently, the study of mutational status of JAK2, MPL and CALR genes, plays an important role in the classification of different subtypes of NMP.
Bulletin Nº51 - June 2014
CYTOGENETICS - Array-CGH
Array-CGH technology detects dose changes (copy number changes or CNV), along the whole genome. The technique is based on the competitive hybridization between a reference DNA and a patient DNA.
Bulletin Nº47 - February 2014
MOLECULAR BIOLOGY - Change of method in celiac disease molecular study
Celiac disease is a chronic inflammatory bowel disease that affects from 1 to 3% of the Western population. At the molecular level, is associated with the HLA genes. From December 2013 we incorporated a new equipment that allows us to make a complete study of the two genetic regions associated with celiac disease (HLA-DQA/HLA-DQB). This equipment is designed to work with reverse hybridization technique adapted to a microarray plate, and also allows us to determine if these alleles are in heterozygous or homozygous state.
Bulletin Nº46 - January 2014
CYTOGENETICS - New method of noninvasive prenatal screening. Study of fetal aneuploidy in maternal blood
Based on the study of circulating fetal DNA in maternal blood, new techniques have been developed for prenatal aneuploidy screening with high sensitivity and specificity.
Bulletin Nº36 - February 2013
CYTOGENETICS - Document of informed consent for genetic testing
For testing oriented genetic diagnosis, is necessary and required that patients know the implications of these tests before implementation, and the best guarantee that this process will be appropriate is the informed consent document.
Bulletin Nº 32 - October 2012
MOLECULAR BIOLOGY - Method change for the molecular study of the HFE mutation gen, related with hereditary hemochromatosis
Hereditary hemochromatosis (HH) is a genetic disease of autosomal recessive transmission wich causes an alteration in iron metabolism.