SavedAdd your journal

Journals / Güncel Retina Dergisi / 2021 / Cilt: 5 - Sayı: 2

Inheritance and Mutations in Hereditary Retinal Diseases

Herediter Retina Hastalıklarında Genetik Geçiş ve Mutasyonlar

G. Ozan ÇETİN
Ebru Nevin ÇETİN
Pages
81–84
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This review focuses on inheritance patterns of hereditary retinal diseases and mutations with recent technological improvements.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Currently, genetic technologies have been rapidly growing and the association between the human genetic variation and disease has been reconsidered.
📊
Key Findings & Data:Hereditary retinal diseases constitute a large proportion of retinal pathologies.
💡
Conclusion & Impact:This review focuses on inheritance patterns of hereditary retinal diseases and mutations with recent technological improvements.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Currently, genetic technologies have been rapidly growing and the association between the human genetic variation and disease has been reconsidered. Hereditary retinal diseases constitute a large proportion of retinal pathologies. Increasing knowledge about inheritance patterns and mutations, as well as the rapidly growing novel information as a result of the utilization of new genetic technologies lead to the definition of novel clinical entities together with options for the diagnosis and treatment. This review focuses on inheritance patterns of hereditary retinal diseases and mutations with recent technological improvements.

Özet

Günümüzde genetik teknolojiler hızla ilerlemektedir ve insandaki genetik varyasyonlarla hastalıklar arasındaki ilişki yeniden ele alınmaktadır. Herediter retina hastalıkları, retinal patolojilerin önemli bir kısmını oluşturmaktadır. Kalıtım özelliklerinin, mutasyonların anlaşılması ve yüksek çıktılı yeni teknolojilerin kullanımı sayesinde hızlanan bilgi birikimi, yeni klinik antitelerin tanımlanmasının yanı sıra tanı ve tedavide yeni imkânların yaratılmasını sağlayacaktır. Bu derlemede güncel bilgiler ışığında herediter retina hastalıklarında kalıtım özellikleri ve mutasyon özellikleri üzerinde durulmuştur.

🔖

Cite This Article

ÇETİN, G. O., ÇETİN, E. N. (2021). Inheritance and Mutations in Hereditary Retinal Diseases. Güncel Retina Dergisi, Cilt: 5 - Sayı: 2, 81–84. https://ajindex.com/articles/224228

References (15)

  1. https://www.ncbi.nlm.nih.gov/genome (Giriş Tarihi: 07/05/2020) Speicher MR. From Genes to Genomics to Proteomics. pp. 139-164 in: Vogel and Motulsky’s Human Genetics 4th ed., Eds. Speicher MR, Antonarakis SE, and Motulsky AG. Springer-Verlag Berlin Heidelberg 2010. Arno G. Motulsky. Formal Genetics of Humans: Modes of Inheritance. pp. 165-210 in: Vogel and Motulsky’s Human Genetics 4th ed., Eds. Speicher MR, Antonarakis SE, and Motulsky AG. Springer-Verlag Berlin Heidelberg 2010.
  2. Jorde LB, Carey JC, Bamshad MJ. Medical Genetics 5th ed., Chapter 4: Autosomal Dominant and Recessive Inheritance, pp. 60-78,
  3. Elsevier, Philadelphia, 2016.
  4. Aşıkovalı S, Bolat H, Cengisiz Z, Ceylan Eİ, Çoğulu Ö, Sözen Türk T. Genetik Materyal ve İşleyişi. pp: 12-34.
  5. Tıbbi Genetik Laboratuvar ve Klinik, Ed. Çoğulu Ö. Ankara Nobel Tıp Kitabevleri, 2017. Aktaş D. Kalıtım Şekilleri. pp: 141-150. Tıbbi Genetik ve Klinik Uygulamaları. Ed. Munis Dündar. Mgrup Matbaacılık Kayseri, 2016.
  6. Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. 1991;11(4): 857-869.
  7. Strachan T, Read AP. Human Molecular Genetics, 5th ed., Chapter 5: Patterns of inheritance, pp. 137-160,
  8. CRC Press, Boca Raton, 2019. https://www.omim.org/ (Giriş Tarihi: 07/05/2020)
  9. Jorde LB, Carey JC, Bamshad MJ. Medical Genetics 5th ed., Chapter 5: Sex-Linked and Nontraditional Modes of Inheritance, pp. 79-102,
  10. Elsevier, Philadelphia, 2016
  11. Tsang SH, Aycinena ARP, Sharma T. Mitochondrial Disorder: Kearns-Sayre Syndrome, pp. 161-162, in: Atlas of Inherited Retinal Diseases, Tsang SH, Sharma T. Springer Nature, Switzerland, 2018.
  12. Tsang SH, Aycinena ARP, Sharma T. Mitochondrial Disorder: Kearns-Sayre Syndrome, pp. 163-165, in: Atlas of Inherited Retinal Diseases, eds. Tsang SH, Sharma T. Springer Nature, Switzerland, 2018.
  13. Nussbaum RL, McInnes RR, Willard HF. Thompson&Thompson Genetics in Medicine, 8th ed., Chapter 4: Human Genetic Diversity: Mutation and Polymorphism, pp. 43-56,
  14. Elsevier, Philadelphia, 2016 Goodwin P. Hereditary retinal diesase. Curr Opin Ophthalmol. 2008;19(3):255-262.
  15. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for M