Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy
Joint Authors
Afat, Layla K.
Zaki, Maha S.
al-Basyuni, Halah T.
al-Turaybi, Ghada M. M.
Shanab, Jamilah
Karim, Amr M.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 14, Issue 1 (31 Jan. 2013), pp.37-47, 11 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2013-01-31
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Topics
Abstract EN
Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, caused due to defects of the respiratory chain.
This study aimed to investigate the presence of common mtDNA point mutations in tRNALeu (UUR), tRNALys, MT-ATPase 6, MT-ND4, MT-ND1, MT-ND6 genes in eight Egyptian patients suspected to have mtDNA disease and optic atrophy.
PCR-RFLP analysis was done for the detection of 3243A > G, 3271T > C, 8344A> G, and 8993T > G / C mtDNA point mutations.
DNA direct sequencing was pursued for the detection of 11778G > A, 3460G > A and 14484T > C mtDNA point mutations.
No point mutation of 3243A > G, 3271T > C, 8344A > G, and 8993T > G / C was detected in our group of patients.
Four mtDNA polymorphisms in MT-ND1 and MT-ND4 genes (11467A > G, 11719G > A, 3348A > G and 3357G > A) were detected in three patients.
American Psychological Association (APA)
al-Turaybi, Ghada M. M.& Afat, Layla K.& al-Basyuni, Halah T.& Zaki, Maha S.& Shanab, Jamilah& Karim, Amr M.. 2013. Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy. The Egyptian Journal of Medical Human Genetics،Vol. 14, no. 1, pp.37-47.
https://search.emarefa.net/detail/BIM-358250
Modern Language Association (MLA)
al-Turaybi, Ghada M. M.…[et al.]. Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy. The Egyptian Journal of Medical Human Genetics Vol. 14, no. 1 (Jan. 2013), pp.37-47.
https://search.emarefa.net/detail/BIM-358250
American Medical Association (AMA)
al-Turaybi, Ghada M. M.& Afat, Layla K.& al-Basyuni, Halah T.& Zaki, Maha S.& Shanab, Jamilah& Karim, Amr M.. Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy. The Egyptian Journal of Medical Human Genetics. 2013. Vol. 14, no. 1, pp.37-47.
https://search.emarefa.net/detail/BIM-358250
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 45-47
Record ID
BIM-358250