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 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.17826/cumj.461390
  • Journal Name: CUKUROVA MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.517-523
  • Çukurova University Affiliated: Yes

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.