Genetic research

Determination of the karyotype

Monogenic disease

  • Cystic fibrosis: CFTR gene mutations.
  • Miodistrofiey Duchenne - Becker: Deletions of exons (promoter region exon 1 ekzony 3, 43, 50, 13, 6, 47, 60, 52, 45, 48, 19, 17, 51, 8, 12, 44, 4) gene dystrophin
  • Spinal muscular amiotrofiya: deletion of 7th and 8 - the first exon of the gene telomeric SMN, 5 ekznu gene deletions NAIP (neuronal apoptosis inhibitor).
  • Phenylketonuria: PAH gene mutations: R408W, R158Q, Y414C
  • Nijmegen Syndrome: gene mutation 657del5 NBS1.
  • Ataxia - telangiectasia, mutated ATM: IVS 53-2A-G, 5932G-T, 3214G-T, 7636del9, 3245ATC-TGAT, 6095 G-A, 7010del G-T.
  • Hereditary hemochromatosis: H63D mutation and S282Y gene HFE.
  • Achondroplasia - mutated FGFR3.
  • CFTR-related disorders - phenotypic manifestations associated with mutations in the CFTR gene:
  • disseminated bronchiectasis;
  • chronic pancreatitis;
  • chronic sinusitis;
  • congenital aplasia of vas deferens;
  • Hereditary lactose intolerance (hypolactasia) - Analysis of gene polymorphisms in LCT.

Mitochondrial disease

Genes susceptibility to various pathological conditions

  • Allelic variants of genes folatnoho metabolism (MTHFR S677T, A1298C; MTRR A66G; MTR A2756G), 2R / 3R gene polymorphism TS (tymidylat synthase TYMS) - susceptibility to disease, atherosclerosis, myocardial infarction, thrombosis, defects of neural tube, anencephaly, Obstetric Pathology , cancer pathology.
  • Mutations in genes encoding coagulation factor V (Leiden mutation (FVL) and II factor (prothrombin G20210A (FII), 675 5G / 4G promoter polymorphism of PAI-1 gene - a predisposition to thrombosis, thromboembolism and trobofiliy planning hormonal contraception.
  • Polymorphic variants receptor gene of vitamin D3 - susceptibility to osteoporosis.
  • ApaI polymorphism of exon 9 of the gene IGF-II - insulin-like growth factor 2.
  • The genes of detoxification system - CYP1A1; mEPHX; GSTM, GSTT1; GSTR1; NAT2shylnist to asthma, endometriosis, cancer pathology, planning, medication, work with toxic factors.
  • Immunogenetic profile - single-nucleotide polymorphism SNP IL-10, TNF-a, CTLA4,
  • Genes VEGF, ACE, CCR2

Violation of fertility in men

  • AZF microdeletions of Y-chromosome region: sY14 (SRY), sY84, sY86, sY127, sY134, sY254, sY255 (in violation of spermatogenesis).
  • Partial deletion AZFs region.
  • The mutations characteristic of genital form of cystic fibrosis (with idiopathic male infertility).
  • Sexing - the presence of the gene SRY.

Prenatal molecular genetic diagnosis

  • Cystic fibrosis, phenylketonuria, Nijmegen syndrome, spinal amiotrofiya, achondroplasia
  • Determination of fetal Rh affiliation suspected Rh - sensitization.
  • Tipping alleles at large histocompatibility complex idiopatychnonomu infertility DQA1, DRB DQV1 HLA-II. (Immunological infertility)