SPİNAL MUSKÜLER ATROFİ'DE MOLEKÜLER TANI: EGE BÖLGERİNDE BİR REFERANS MERKEZİNDEKİ UYGULAMALAR

Sacide Pehlivan; Ferda Özkınay; Savaş İzzetoğlu; Özgür Çoğulu; Arife Kunt; Tufan Çankaya; Eren Demirtaş; Sarenur Tütüncüoğlu

EN TR

MOLECULAR DIAGNOSIS IN SPINAL MUSCULAR ATROPHY: APPLICATIONS AT A REFERENCE CENTER IN AEGEAN REGION

Abstract

Spinal Muscular Atrophy (SMA) is one of the most common autosomal recessive neurodegeneratıve disorders. In this study, 18 patients diagnosed to have SMA by pediatric neurologist were investigated for teiomeric-Survivai Motor Neuron (tSMN) and Neuronal Apoptosis Inhibitory Protein (NAİP) gene deletions. Among 18 patients, 8 had both exon 7 and 8 deletions of SMN gene and exon 6 deletion of NAİP gene. Six patients had exon 7 and 8 deletions of tSMN. Two patients who were sibling had only exon 7 deletions of tSMN gene. İn two patients out of 18 patients no deletion could be detected in the genes investigated.

Keywords

spinal muscular atrophy, SMN gene, NAİP gene, DNA, deletion

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Sacide Pehlivan

Ferda Özkınay

Savaş İzzetoğlu

Özgür Çoğulu

Arife Kunt

Tufan Çankaya

Eren Demirtaş

Sarenur Tütüncüoğlu

Publication Date

March 1, 2002

Submission Date

March 1, 2002

Acceptance Date

-

Published in Issue

Year 2002 Volume: 41 Number: 1

IZ

https://izlik.org/JA23TU47WM

Cite

RIS / Bibtex

Vancouver

1.Sacide Pehlivan, Ferda Özkınay, Savaş İzzetoğlu, Özgür Çoğulu, Arife Kunt, Tufan Çankaya, Eren Demirtaş, Sarenur Tütüncüoğlu. SPİNAL MUSKÜLER ATROFİ’DE MOLEKÜLER TANI: EGE BÖLGERİNDE BİR REFERANS MERKEZİNDEKİ UYGULAMALAR. EJM [Internet]. 2002 Mar. 1;41(1):7-10. Available from: https://izlik.org/JA23TU47WM

MOLECULAR DIAGNOSIS IN SPINAL MUSCULAR ATROPHY: APPLICATIONS AT A REFERENCE CENTER IN AEGEAN REGION

Abstract

Keywords