Familial occurrence of skeletal developmental anomalies as a reflection of biological relationships in a genealogically documented Central European sample (19th to 20th centuries)
| Autor: | Martin Horák, Petr Velemínský, Tomáš Jor, Ondřej Naňka, Jaroslav Brůžek, Jan Cvrček, Vítězslav Kuželka, Ján Dupej |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Histology Population Consanguinity medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Similarity (network science) biology.animal Heredity medicine Humans Child education Molecular Biology Ecology Evolution Behavior and Systematics education.field_of_study Anteater biology Temporal Bone Grandparent Cell Biology Aplasia medicine.disease Body Remains 030104 developmental biology Cervical Vertebrae Anatomy Inbreeding Neck 030217 neurology & neurosurgery Developmental Biology Demography |
| Zdroj: | Journal of Anatomy. 239:1226-1238 |
| ISSN: | 1469-7580 0021-8782 |
| DOI: | 10.1111/joa.13499 |
| Popis: | Skeletal developmental anomalies (SDA) are a subject of constant interest across scientific disciplines, but still mostly as isolates and curiosities. The aim of this study was to find out to what extent the occurrence of SDA reflects documented biological relationships. The skeletal remains of 34 individuals with known genealogical data were available, members of one family over four generations (19th to 20th centuries, Bohemia, Czech Republic), including some inbred individuals. The occurrence of 89 SDA was assessed on the basis of scopic morphological evaluation and X-ray and CT examinations. The degree of similarity between individuals was calculated using a "similarity coefficient" (SC). A linear model was used to test the relationship between positive values of the SC and the relatedness of biologically related individuals. Simultaneously, based on population frequencies of the evaluated anomalies, those that could be considered familial were recorded. A statistically significant relationship between morphological similarity and the biological distance between individuals was found. The greatest similarity was found among close relatives such as parents and children, siblings, or grandparents and grandchildren. The effect of increased consanguinity on the occurrence of anomalies was not confirmed, however. Seventeen SDA shared by closely related individuals were found in the sample, supporting the documented family relationships among them. Eleven of these were selected as possibly familial, but only five were statistically significant: an elongated styloid process, a cervical block vertebrae (arch, facet joints), hamate hamulus aplasia, anteater nose sign, and incomplete fusion of the S1 spinous process. There were also 28 cases of individual occurrences of 17 different SDA, without connection to the documented relationships between individuals. |
| Databáze: | OpenAIRE |
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