title: Use of D11S2179 and D11S1343 as markers for prenatal diagnosis of ataxia telangiectasia in Iranian patients.
abstract: Ataxia telangiectasia (AT) is an autosomal recessive disorder with an estimated prevalence of 1/40,000 to 1/100,000 in reported populations. There is a 25% possibility for having an affected child when parents are carriers for the ATM gene mutation. There is no cure available for this disease and prenatal testing is strongly recommended for prevention of this disease. Although the preferred method is the direct mutation analysis of the ATM gene, the large size of the ATM gene with 63 exons and the large number of possible mutations in patients considerably limit efficiency of mutation analysis as a diagnostic choice. Indirect method is a better tool when parents are not carriers of founder mutation and pass different mutations to their children. Indirect molecular diagnosis using ATM-related molecular markers facilitates prenatal diagnosis of AT children. In this study, four molecular markers: D11S2179, D11S1787, D11S535, D11S1343 are genotyped in 19 unrelated families from different regions of Iran. Those markers are amplified using extracted sequence primers from the Gene Bank with their described PCR conditions. Amplified products were separated using denaturing PAGE gels, and data were analyzed to detect their pattern of inheritance in each family. In all families, segregation of alleles was according to Mendelian inheritance, and affected chromosomes were distinguishable from unaffected ones. All carriers and affected patients were diagnosed accurately. Thus, this method is effectively useful in prenatal diagnosis of AT.
authors.affiliation: Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
authors.forename: Behnaz
authors.initials: B
authors.lastname: Bayat
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Mohammad Hossein
authors.initials: MH
authors.lastname: Sanati
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Mehdi Shafa Shariat
authors.initials: MS
authors.lastname: Panahi
authors.forename: Seyed Ahmad
authors.initials: SA
authors.lastname: Aleyasin
authors.forename: Anna
authors.initials: A
authors.lastname: Isaian
authors.forename: Abolhasan
authors.initials: A
authors.lastname: Farhoodi
mesh_terms: D000483:Alleles; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005819:Genetic Markers; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007492:Iran; D009154:Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D005819:Genetic Markers; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases