MOLECULAR GENETICS

  • molecular genetics

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, GJB2 / GJB6, FGFR3, SMN1, HFE, DMD. In addition, Genechron also offers an analysis service on the FMR1 gene (Fragile X syndrome) and on the Y-chromosome regions linked to male infectiousness.

HBB

HBB gene (hemoglobin subunit beta) codes for the beta-globin protein which is one of the hemoglobin subunits. Mutations in HBB gene cause deficiency or absence of hemoglobin subunit beta and are therefore responsible for the onset of Beta Thalassemia, also known as Mediterranean Anemia or Erythroblastic Anemia. The incidence at birth (for the severe form) is estimated at 100,000/year. The disorder is autosomal recessive and approximately 400 mutations have been identified up to now. The genetic test consists in complete sequencing to identify mutations in the coding region of the HBB gene; that is also important to identify heterozygous individuals (healthy carriers) as well as in prenatal diagnosis.

GJB2

Most of inherited deafness forms (about 80%) have an autosomal recessive transmission and are largely caused by mutations in GJB2 gene (gap junction protein beta 2) and GJB6 gene (gap junction protein beta 6). These genes code for proteins of the connexin family: GJB2 for connexin 26 (cx26) and GJB6 for connexin 30 (cx30), all proteins found inside the Organ of Corti. The genetic test consists in analyzing the sequence of this two genes to identify the presence of possible mutations. Molecular analysis can also be performed for the family members of afflicted people in order to identify the healthy carriers of the mutation.

CFTR

Cystic Fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane Regulator); the gene codes for an ion channel located on the apical membrane of epithelial cells that line ducts and cavities of many organs. Mutations of the gene cause more dense and viscous secretions than normal, especially in respiratory and digestive system. The only way to identify healthy carriers is to perform a DNA genetic test. The analyses are distinguished in first level tests, in which the most frequent mutations are found, and second level tests, in which the entire gene coding region is analyzed.

FGFr

FGFR3 gene codes for the fibroblast growth factor receptor type 3, a protein expressed on connective tissue cells. Mutations in the FGFR3 gene make the protein always active, causing a continuous inhibition of cells that allow the growth and lengthening of the bone. Genetic testing is recommended to confirm the diagnosis based on clinical signs. It is also possible to perform the genetic test for prenatal diagnosis in high-risk pregnancies and with suspicion of achondroplasia after ultrasound exam.

Microdelezione

Specific microdelections in three regions of the Y chromosome cause male infertility. In these regions, it is believed that genes provide instructions for the production of proteins involved in the development of sperm cells. The missing genetic material prevents the production of a number of necessary proteins for normal development of the sperm, with consequent infertility. The genetic test allows to ascertain whether the male infertility, detected in a patient, is due to microdeletions on the Y chromosome or to another cause.

xfragile

Fragile X Syndrome is a hereditary genetic condition that causes cognitive disability, learning and interpersonal problems. The syndrome is caused by the expansion of a CGG repetition within the FMR1 gene (Fragile X Mental Retardation 1) positioned on the X chromosome. If the CGG repetitions exceed 200 copies, we are in presence of the Syndrome. Molecular analysis allows the determination of the CGG repetition number and can be used for prenatal and pre-implantation genetic diagnosis. It is also very useful for identifying healthy carriers: individuals who have repetitions between 50 and 200 and who are more likely to have children with the syndrome.

SMA

Spinal muscular atrophy (SMA) is a disease characterized by degeneration of the motor neurons in the anterior horns of the spinal cord, which results in atrophy and weakness of the muscles of the trunk and limbs. SMA is caused by mutations in the SMN1 gene (survival of motor neuron 1) , located on chromosome 5, next to an almost identical gene called SMN2. The disease can be caused by the absence or alteration of the SMN1 gene due to deletion, by the conversion of SMN1 into SMN2 or in rare cases by small mutations. Molecular analysis allows a rapid and early diagnosis.

emocromatosi

HFE gene (homeostatic iron regulator) codes for a crucial protein in the regulation system of iron absorption by the gastrointestinal mucosa. Mutations in the gene can cause the onset of an autosomal recessive genetic disease called Hemochromatosis. The most frequent mutations in patients with hereditary hemochromatosis are C282Y and H63D. Genetic testing is essential for the diagnosis or exclusion of the presence of hereditary hemochromatosis. In addition, the test should be extended to close relatives (sibling or children) of homozygous subjects for the C282Y mutation.

distrofia

Duchenne Muscular dystrophy or DMD is a recessive neuromuscular disorder linked to the X chromosome. DMD specifically affects skeletal muscle tissue, including respiratory and cardiac muscles, and is characterized by a progressive destruction of muscle tissue that is progressively replaced from fibrous and adipose tissue. Molecular analysis by MLPA (Multiplex ligation-dependent probe amplification) allows identification of intragenic deletions or duplications in the DMD gene, while sequencing shows point mutations, small deletions or gene insertions responsible for the pathology.