Detection of CAG trinucleotide repeat numbers with fragment analysis in patients diagnosed with Huntington's disease and in their families


ALPTEKİN D. , PAZARCI P. , Bereketoğlu M. A. , ERKOC M. A. , ILGAZ N. S. , Luleyap U.

CUKUROVA MEDICAL JOURNAL, vol.44, no.2, pp.517-523, 2019 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.17826/cumj.461390
  • Title of Journal : CUKUROVA MEDICAL JOURNAL
  • Page Numbers: pp.517-523

Abstract

Purpose: Huntington's Disease (HD) is an autosomal dominant disorder affecting nervous system. CAG trinucleotide repeat (TNR) increase in Huntingtin gene causes the disease. In normal individuals, 10-35 TNRs are found whereas in HD this number exceeds 36-37. This study aimed to investigate TNR numbers in individuals with HD diagnosed family and to provide genetic counselling for individuals with abnormal alleles.