Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease
INTERNATIONAL JOURNAL OF NEUROSCIENCE, cilt.113, sa.6, ss.777-785, 2003 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 113 Sayı: 6
- Basım Tarihi: 2003
- Doi Numarası: 10.1080/00207450390200972
- Dergi Adı: INTERNATIONAL JOURNAL OF NEUROSCIENCE
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.777-785
- Karadeniz Teknik Üniversitesi Adresli: Evet
Özet
In the present work, we describe a large Turkish family (N=39) with Charcot-Marie-Tooth disease, which is the most commonly inherited peripheral neuropathy. The subjects were from four generations, including six hemizygote patients and nine heterozygote carrier females: Symptoms appeared in late childhood in males (mean age=13.5) but later in carrier females (mean age=33.5). The peripheral nerve conduction was more severely affected in males than females. Genomic DNA was isolated from peripheral white blood cells. Using SSCP technique (single strand conformation polymorphism analysis); abnormal patterns of migration were observed in 15 subjects: 6 of them were hemizygote males and 9 were heterozygote carrier females. We identified a mutation of the Cx32 gene, consisting of a guanine to adenine transition at position 271 (271 G-A). The results suggested relations between degenerative processes and position of Cx32 mutations.