Mutational analysis of beta-thalassemia cases from the Aegean region of Turkey using an allele-specific oligonucleotide hybridization technique

Gulesken S., Oren H., Vergin C., Sanli N., Gulen H., Ucar C., ...More

ACTA HAEMATOLOGICA, vol.104, no.4, pp.181-184, 2000 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 104 Issue: 4
  • Publication Date: 2000
  • Doi Number: 10.1159/000046512
  • Journal Name: ACTA HAEMATOLOGICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.181-184
  • Keywords: allele-specific oligonucleotide, beta-thalassemia, hybridization, thalassemic mutations, MOLECULAR-BASIS, PRENATAL-DIAGNOSIS, DNA AMPLIFICATION, CHAIN-REACTION, POPULATION, INTERMEDIA, REPOSITORY, PROBES
  • Dokuz Eylül University Affiliated: Yes

Abstract

The aim of the present study was to evaluate the point mutations of beta-thalassemia patients from the Aegean region of Turkey by using an allele-specific oligonucleotide hybridization technique. DNA isolated from peripheral blood samples of 75 children with beta-thalassemia major or intermedia was analyzed using a Bio-Rad mD(x)(TM)-Be Tha Gene 1 kit. We determined mutations in 56 (74.6%) patients. The allelic frequency of mutations in 150 chromosomes was as follows: IVS-I-110 (G-A) 44.1%, IVS-I-1 (G-A) 28.2%, IVS-I-6 (T-C) 13.3%, IVS-II-745 (C-G) 9.3%, IVS-II-1 (G-A) 2.7%, Cd 39 (C-T) 2.4%, -87 (C-G) 0% and Cd 6 (-A) 0%. The distribution of the mutation types was consistent with the findings of other research groups. Copyright (C) 2001 S. Karger AG, Basel.