Genetics inheritance pathways genetics inheritance

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with incomplete penetrance for cystine lithiasis. Genetics / Inheritance pathways: Genetics / Inheritance pathways: Two genes responsible for cystinuria have been identified: SLC3A1 gene – located on 2p16.3-21 and SLC7A9 gene – located on 19q12-13.1. These genes encodes the subunits of rBAT/b0+AT transporter of cystine and dibasic amino acids. Based to the gene that is affected, cystinuria is divided into: Type A cystinuria – homozygotes/compound heterozygotes for mutation in SLC3A1 gene, Type B cystinuria – homozygotes/compound heterozygotes for mutation in SLC7A9 gene, Type AB cystinuria – one mutation in SLC3A1 gene and one mutation in SLC7A9 gene. This cystinuria type is very rare, and probands manifest as heterozygotes for type B cystinuria. Genetic testing Genetic testing: More than 130 and 90 mutations in SLC3A1 and SLC7A9 genes have been identified, respectively. There are several most common cystinuria mutations in south-eastern European countries. These are T216M, M467T, R365L in SLC3A1 gene and G105R in SLC7A9 gene. Cystinuria mutations are specific for certain ethnic groups. Importance of molecular Importance of molecular testing testing : Determinination of the molecular defect confirms the disease. Determination of cystinuria-carrier status in individuals with a family history of cystinuria enables evaluation of the risk of having child with cystinuria. CYSTINURIA tests performed at RCGEB Price (МКД) Determining the genetic defect in SLC3A1 gene in patients with cystinuria using DNA sequencing method 25.000
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