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, cilt.44, ss.517-523, 2019 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 44 Konu: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.17826/cumj.461390
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Sayfa Sayısı: ss.517-523

Özet

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.