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, sa.2, ss.517-523, 2019 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.17826/cumj.461390
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.517-523
  • Çukurova Üniversitesi Adresli: Evet

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.