Yıl 2015, Cilt 45, Sayı 6, Sayfalar 1228 - 1233 2015-12-04

Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey
Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey

PERÇİN PAZARCI [1] , HALİL KASAP [2] , AYŞE FİLİZ KOÇ [3] , ŞAKİR ALTUNBAŞAK [4] , MEHMET ALİ ERKOÇ [5]

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Background/aim: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features. Materials and methods: 159 patients who received a diagnosis of SCA and 42 healthy controls from Adana, Mersin, Gaziantep, Hatay, and Osmaniye provinces were included in the study. DNA samples were isolated from 2 mL blood samples and the number of trinucleotide repeats (TNRs) for each SCA type was detected using PCR-RFLP technique and sequencing. Results: Of the 6 SCA types that were studied, 4 types, SCA 1, 3, 7, and 17, were positive and all heterozygous for expansions. SCA types 1 and 17 had higher frequencies, 4.4% and 3.8%, respectively, than SCA types 3 and 7. The clinical data of patients were also evaluated to correlate with the increased TNR numbers. Conclusion: This study, being the first mutation record of SCAs in this area, indicated that 9.4% of cases belonged to 4 types, SCA 1, 3, 7, and 17.
Background/aim: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features. Materials and methods: 159 patients who received a diagnosis of SCA and 42 healthy controls from Adana, Mersin, Gaziantep, Hatay, and Osmaniye provinces were included in the study. DNA samples were isolated from 2 mL blood samples and the number of trinucleotide repeats (TNRs) for each SCA type was detected using PCR-RFLP technique and sequencing. Results: Of the 6 SCA types that were studied, 4 types, SCA 1, 3, 7, and 17, were positive and all heterozygous for expansions. SCA types 1 and 17 had higher frequencies, 4.4% and 3.8%, respectively, than SCA types 3 and 7. The clinical data of patients were also evaluated to correlate with the increased TNR numbers. Conclusion: This study, being the first mutation record of SCAs in this area, indicated that 9.4% of cases belonged to 4 types, SCA 1, 3, 7, and 17.
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Yazar: PERÇİN PAZARCI

Yazar: HALİL KASAP

Yazar: AYŞE FİLİZ KOÇ

Yazar: ŞAKİR ALTUNBAŞAK

Yazar: MEHMET ALİ ERKOÇ

Bibtex @ { tbtkmedical149004, journal = {Turkish Journal of Medical Sciences}, issn = {1300-0144}, eissn = {1303-6165}, address = {TÜBİTAK}, year = {2015}, volume = {45}, pages = {1228 - 1233}, doi = {}, title = {Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey}, key = {cite}, author = {ALTUNBAŞAK, ŞAKİR and PAZARCI, PERÇİN and ERKOÇ, MEHMET ALİ and KASAP, HALİL and KOÇ, AYŞE FİLİZ} }
APA PAZARCI, P , KASAP, H , KOÇ, A , ALTUNBAŞAK, Ş , ERKOÇ, M . (2015). Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey. Turkish Journal of Medical Sciences, 45 (6), 1228-1233. Retrieved from http://dergipark.gov.tr/tbtkmedical/issue/12391/149004
MLA PAZARCI, P , KASAP, H , KOÇ, A , ALTUNBAŞAK, Ş , ERKOÇ, M . "Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey". Turkish Journal of Medical Sciences 45 (2015): 1228-1233 <http://dergipark.gov.tr/tbtkmedical/issue/12391/149004>
Chicago PAZARCI, P , KASAP, H , KOÇ, A , ALTUNBAŞAK, Ş , ERKOÇ, M . "Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey". Turkish Journal of Medical Sciences 45 (2015): 1228-1233
RIS TY - JOUR T1 - Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey AU - PERÇİN PAZARCI , HALİL KASAP , AYŞE FİLİZ KOÇ , ŞAKİR ALTUNBAŞAK , MEHMET ALİ ERKOÇ Y1 - 2015 PY - 2015 N1 - DO - T2 - Turkish Journal of Medical Sciences JF - Journal JO - JOR SP - 1228 EP - 1233 VL - 45 IS - 6 SN - 1300-0144-1303-6165 M3 - UR - Y2 - 2018 ER -
EndNote %0 Turkish Journal of Medical Sciences Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey %A PERÇİN PAZARCI , HALİL KASAP , AYŞE FİLİZ KOÇ , ŞAKİR ALTUNBAŞAK , MEHMET ALİ ERKOÇ %T Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey %D 2015 %J Turkish Journal of Medical Sciences %P 1300-0144-1303-6165 %V 45 %N 6 %R %U
ISNAD PAZARCI, PERÇİN , KASAP, HALİL , KOÇ, AYŞE FİLİZ , ALTUNBAŞAK, ŞAKİR , ERKOÇ, MEHMET ALİ . "Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey". Turkish Journal of Medical Sciences 45 / 6 (Aralık 2015): 1228-1233.