Pedigree Analysis of Families and Patients Affected by Retinitis Pigmentosa

Scherbakova, Ioana; Ragi, Sara D

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

Cited by 1 publication

(1 citation statement)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…They are used to help establish inheritance patterns and identify individuals at risk for a disease. Pedigree analysis can be useful for identifying genetic disorders that exhibit mechanisms, such as autosomal dominant or recessive inheritance, X-linked inheritance, and anticipation [1]. Pedigree analysis is an ancient and powerful approach to understanding the underlying genetic determinants of human health, but identifying, recruiting, and genotyping families can be difficult, time-consuming, and expensive [2].…”

Section: Introductionmentioning

confidence: 99%

Problems of collecting genetic history, interpretation of pedigrees with common and rare dermatological, skeletal, dental and other peculiarities that affect the appearance and health of a human

Filiptsova,

Naboka,

Kryskiv

et al. 2023

ScienceRise: Biological Science

View full text Add to dashboard Cite

The aim of the study was to analyze the problem of constructing and interpreting human pedigrees, which include some signs that are easily detected during a clinical examination and the collection of primary history. Materials and methods. 2 pedigrees from own sources and 2 pedigrees of famous people from literary sources are presented. They serve as the examples of using the provided data for further medical and genealogical analysis. Results and discussion. The results indicate that pedigree analysis is a primary and informationally important tool for the further algorithm of diagnosis and treatment of subjects. The effect of the quantity, quality and testing level of the presented genealogical information for a full pedigree analysis and the use of its possibilities is demonstrated.Pedigree analysis demonstrated that the number of absolute units of quantitative information presented (total number of generations and members of the pedigree) and absolute units of qualitative information (traits/medical conditions listed and their level of detail) may not be associated with the value of genetic conclusions. It has been shown that the largest number of members in a generation is usually represented for the generation of the propositus.Thus, smaller pedigrees, where more units of information are represented per member, can be of greater value for genetic conclusions. An analysis of one's own pedigrees showed that, on average, less than one trait can be represented per person in the pedigree. Additionally, small pedigrees with available molecular genetic data may be of greatest value, even retrospectively. Conclusions. It is shown that pedigrees can represent valuable primary information for clinicians regarding the further algorithm of the subject dealing and serve as a tool for the scientific thinking development in the educational process

show abstract

Section: Introductionmentioning

confidence: 99%