MOLECULAR GENETICS

  • molecular genetics

We will be ready to launch the service within the end of 2017

molecular genetics CFTR Cystic Fibrosis Transmembrane Conductance Regulator HBB Hemoglobin Sub-unit Beta HBA1 Hemoglobin Sub-unit Alpha

molecular genetic GJB2 Gap Junction beta-2 Protein ATM Ataxia Telangiectasia Mutated

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Genechron S.r.l. offers molecular services to support diagnosis in hereditary diseases. Genechron designs and synthesizes its own specific primers for amplification and sequencing of relevant genes to set-up optimal amplification and sequencing conditions. The service includes complete sequencing of the coding regions and the mutational analysis for the following genes: CFTR, HBB, HBA, ATM, and GJB2 .

 

CFTR

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene produces a protein whose function is to allow the inward and outward transport of chloride ions from the epithelial cells. This transport mechanism is relevant to ensure the salt and water balance on epithelial surfaces, particularly in pancreas, lungs and liver. Mutations in this gene are associated with the autosomal recessive disorders called Cystic Fibrosis and congenital bilateral absence of the vas deferens.

HBB

The HBB (Hemoglobin Sub-unit Beta) gene codes for a protein called beta-globin. Beta-globin is a sub-unit of a larger protein called hemoglobin, located in red blood cells. In adults, hemoglobin normally consists of four protein sub-units: two sub-units of beta-globin and two sub-units of another protein called alpha-globin. Each of these sub-units is bound to an iron-containing molecule called heme; each heme contains an iron molecule in its center that binds to one oxygen molecule. Hemoglobin binds to oxygen molecules in the lung and allow the oxygen transport through the body. Mutations in HBB gene produce a variation on the sub-unit structure causing beta-zero-thalassemia or beta-plus-thalassemia. Both disorders produces a poor hemoglobin production with a consequent problems in the oxygen transport mechanisms.

HBA1

The HBA1 (Hemoglobin Sub-unit Alpha) gene codes for a protein called alpha-globin. This protein is also produced by a nearly identical gene called HBA2. These two alpha-globin genes are located close together in a region of chromosome 16 known as the "alpha-globin locus". Alpha-globin is a component (sub-unit) of the larger protein called hemoglobin, which binds to oxygen molecules in the lung and allows the oxygen transport through the body. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1.

GJB2

GJB2 (Gap Junction beta-2 Protein) gene codes for a protein also known as connexin 26, responsible for the formation of membrane bound channels called "gap junctions" that in turn allow the transport of ions, and signalling molecules across neighbouring cells. The mutated form of this gene has been associated to Non-Syndromic Congenital deafness.

ATM

The ATM (Ataxia Telangiectasia Mutated) gene codes for a protein involved in the control of cells growth and division. This protein also plays an important role in the normal development and activity of several compartments, including the nervous system and the immune system. Moreover, the ATM protein assists cells in recognizing damaged or broken DNA strands. Mutations in the ATM gene cause Ataxia telangiectasia (AT), which is a rare human disease, characterized by cerebellar degeneration, extreme cellular sensitivity to radiation and a predisposition to cancer.