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GAA repeat polymorphism in Turkish Friedreich's ataxia patients.
Int J Neurosci. 2006 May; 116(5):565-74.IJ

Abstract

Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. Results of GAA repeat polymorphism in 80 Turkish SCA patients and 38 family members of 11 typical FRDA patients were reported. GAA triplet repeat size ranged from approximately 7 to 34 in normal alleles and from approximately 66 to 1300 in mutant alleles. Twenty six patients were homozygous for GAA expansion and size of expanded alleles differed from approximately 425 to 1300 repeats. Children 2 and 6 years old (showing no ataxia symptoms) of one family had homozygous GAA expansions reaching approximately 925 repeats. All 11 families studied had at least 1 afflicted child and 9 parents and 2 siblings were carrier (heterozygous) with mutant alleles ranging from 66 to 850 repeats. Family studies confirmed the meiotic instability and stronger effect of expansion in the smaller alleles on phenotype and a negative correlation between GAA repeat expansion size and onset-age of the disease.

Authors+Show Affiliations

Department of Medical Biology and Genetics Medical School Cukurova University, Adana, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

16644517

Citation

Yilmaz, M Bertan, et al. "GAA Repeat Polymorphism in Turkish Friedreich's Ataxia Patients." The International Journal of Neuroscience, vol. 116, no. 5, 2006, pp. 565-74.
Yilmaz MB, Koç AF, Kasap H, et al. GAA repeat polymorphism in Turkish Friedreich's ataxia patients. Int J Neurosci. 2006;116(5):565-74.
Yilmaz, M. B., Koç, A. F., Kasap, H., Güzel, A. I., Sarica, Y., & Süleymanova, D. (2006). GAA repeat polymorphism in Turkish Friedreich's ataxia patients. The International Journal of Neuroscience, 116(5), 565-74.
Yilmaz MB, et al. GAA Repeat Polymorphism in Turkish Friedreich's Ataxia Patients. Int J Neurosci. 2006;116(5):565-74. PubMed PMID: 16644517.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - GAA repeat polymorphism in Turkish Friedreich's ataxia patients. AU - Yilmaz,M Bertan, AU - Koç,A Filiz, AU - Kasap,Halil, AU - Güzel,A Irfan, AU - Sarica,Yakup, AU - Süleymanova,Dilara, PY - 2006/4/29/pubmed PY - 2006/7/11/medline PY - 2006/4/29/entrez SP - 565 EP - 74 JF - The International journal of neuroscience JO - Int J Neurosci VL - 116 IS - 5 N2 - Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. Results of GAA repeat polymorphism in 80 Turkish SCA patients and 38 family members of 11 typical FRDA patients were reported. GAA triplet repeat size ranged from approximately 7 to 34 in normal alleles and from approximately 66 to 1300 in mutant alleles. Twenty six patients were homozygous for GAA expansion and size of expanded alleles differed from approximately 425 to 1300 repeats. Children 2 and 6 years old (showing no ataxia symptoms) of one family had homozygous GAA expansions reaching approximately 925 repeats. All 11 families studied had at least 1 afflicted child and 9 parents and 2 siblings were carrier (heterozygous) with mutant alleles ranging from 66 to 850 repeats. Family studies confirmed the meiotic instability and stronger effect of expansion in the smaller alleles on phenotype and a negative correlation between GAA repeat expansion size and onset-age of the disease. SN - 0020-7454 UR - https://www.unboundmedicine.com/medline/citation/16644517/GAA_repeat_polymorphism_in_Turkish_Friedreich's_ataxia_patients_ L2 - https://www.tandfonline.com/doi/full/10.1080/00207450600592099 DB - PRIME DP - Unbound Medicine ER -