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Homozygosity Mapping for Autosomal Recessive Ocular Diseases

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Advances in Vision Research, Volume I

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

Genetic eye diseases play a major role in causing visual impairment and blindness affecting all the structures of the eye from the anterior to posterior segment. They are inherited as either Mendelian or complex and in Mendelian inheritance, auotosomal dominant, autosomal recessive or X-linked recessive patterns are commonly observed. Linkage and homozygosity mapping is based on the information provided by the non-recombinants on the chromosomal segments to map disease genes. In Homozygosity mapping the large stretches of homozygous alleles inherited due to identity-by-descent (IBD) and shared between the affected individual(s) and absent in the unaffected in the family are compared to map the disease gene locus. A small family with one each of affected and unaffected provides sufficient data to map disease locus/gene using homozygosity mapping unlike linkage studies where larger multi-generation families with many affected and unaffected are required. An increased prevalence of autosomal recessive disorders observed in genetically isolated or highly inbred families have aided in mapping many ocular diseases genes using homozygosity mapping. This chapter details the history, methodology and the different ocular diseases where homozygosity mapping has been applied to identify the causative genes.

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Authors and Affiliations

  1. SNONGC Department of Genetics and Molecular Biology, Kamal Nayan Bajaj Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, TN, India

    Chandrasekar SatyaPriya, Sundaramoorthy Srilekha, Karthikeyan Sudha, Sarangapani Sripriya & Nagasamy Soumittra

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  1. Chandrasekar SatyaPriya
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  2. Sundaramoorthy Srilekha
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  3. Karthikeyan Sudha
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  4. Sarangapani Sripriya
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Correspondence to Nagasamy Soumittra .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA

    Gyan Prakash

  2. Tokyo Medical Center, National Institute of Sensory Organs, Tokyo, Japan

    Takeshi Iwata

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SatyaPriya, C., Srilekha, S., Sudha, K., Sripriya, S., Soumittra, N. (2017). Homozygosity Mapping for Autosomal Recessive Ocular Diseases. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume I. Essentials in Ophthalmology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56511-6_32

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