Objective

This study considers the evidence for elevated frequencies of “rare” diseases in ancient Panama. Indications of population isolation by multidisciplinary sources allow for the possibility that rare inherited conditions may have been maintained at relatively high prevalences in the region due to gene flow restriction.

Materials

A sample of 267 skeletal human remains with diverse demographical characteristics from Pre-Columbian archaeological sites throughout Panama.

Methods

Remains were analyzed macroscopically and hard tissue developmental anomalies were documented.

Results

Frequencies of developmental anomalies and hard tissue changes consistent with specific rare genetic diseases, such as osteogenesis imperfecta, on the comparatively few human remains recovered from pre-Columbian archaeological sites are elevated as compared with global averages.

Conclusions

The paleopathological evidence is concordant with a scenario of isolation in Pre-Columbian times and with an increased presence of genetic disorders in the population.

Significance

This study advocates for the special consideration of rare diseases by paleopathologists in regions where populations may have experienced prolonged geographical or social isolation in the past.

Limitations

A dearth of local modern epidemiological data and low sample sizes of preserved human remains in certain regions of the country limited the possibilities of spatiotemporal comparisons of rare disease prevalence.

Suggestions for further research

Further scrutiny of developmental anomalies of genetic origin on ancient Panamanian remains and biomolecular testing of remains for specific disorders should be pursued to confirm the findings of this study.

中文翻译：

---

孤立的地峡：古巴拿马遗传病的患病率可能升高以及在古病理学中考虑罕见病的意义

客观的

这项研究考虑了古代巴拿马“罕见”疾病频率升高的证据。多学科来源的种群隔离迹象表明，由于基因流动限制，该地区可能一直保持着相对较高的流行率。

材料

来自巴拿马前哥伦布时期考古遗址的 267 具具有不同人口特征的骨骼人类遗骸样本。

方法

对遗骸进行宏观分析，并记录了硬组织发育异常。

结果

与全球平均水平相比，在从前哥伦布时期考古遗址中恢复的相对较少的人类遗骸上，发育异常和硬组织变化的频率与特定的罕见遗传疾病（如成骨不全）一致。

结论

古病理学证据与前哥伦布时期的隔离情景以及人群中遗传疾病的增加一致。

意义

这项研究提倡在过去可能经历过长期地理或社会隔离的地区的古病理学家特别考虑罕见疾病。

限制

该国某些地区缺乏当地现代流行病学数据和保存的人类遗骸样本量低，限制了罕见病流行率时空比较的可能性。

进一步研究的建议

应进一步审查古代巴拿马遗骸的遗传起源发育异常，并对遗骸进行特定疾病的生物分子检测，以确认本研究的结果。