Pedigree Analysis of Families and Patients Affected by Retinitis Pigmentosa

Ioana Scherbakova; Sara D Ragi

doi:10.1007/978-1-0716-2651-1_5

Pedigree Analysis of Families and Patients Affected by Retinitis Pigmentosa

Methods Mol Biol. 2023:2560:67-71. doi: 10.1007/978-1-0716-2651-1_5.

Authors

Ioana Scherbakova¹, Sara D Ragi²

Affiliations

¹ Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA. [email protected].
² Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.

PMID: 36481883
DOI: 10.1007/978-1-0716-2651-1_5

Abstract

Family pedigrees allow for a more thorough understanding of human genetic disorders. They are used to help establish patterns of inheritance and to identify individuals at risk of disease. Pedigree analysis can be helpful in identifying genetic disorders that demonstrate mechanisms such autosomal dominant or recessive inheritance, X-linked inheritance, and anticipation.

Keywords: Autosomal dominant RP; Autosomal recessive RP; Inherited retinal disorders; Patterns of inheritance; Pedigrees; Retinitis pigmentosa; X-Linked RP.

MeSH terms

Humans
Retinitis Pigmentosa* / genetics