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

ALPTEKİN, DAVUT; PAZARCI, PERÇİN; Bereketoğlu, Mehmet; ERKOC, Mehmet; ILGAZ, NERMİN; Luleyap, Umit

doi:10.17826/cumj.461390

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, TRDizin)

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.