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一位中世纪林地个体骨骼发育异常中的重叠遗传途径:一项案例研究。

Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study.

作者信息

Cormier Aviva A, Buikstra Jane E, Osterholtz Anna

机构信息

Department of Archaeology, Boston University, 675 Commonwealth Avenue, Suite 347, Boston, MA, 02215, USA.

School of Human Evolution and Social Change, Arizona State University, PO Box 872402, Tempe, AZ, 85287-2402, USA.

出版信息

Int J Paleopathol. 2017 Sep;18:98-107. doi: 10.1016/j.ijpp.2017.06.001. Epub 2017 Jun 21.

DOI:10.1016/j.ijpp.2017.06.001
PMID:28888399
Abstract

Studies of interacting/overlapping genetic skeletal disorders are rare for populations today, but even more so for archaeological contexts. The skeletal remains of an adult female (EZ 3-7-1) were excavated in the 1980s from the Middle Woodland (50BC-AD400) context of the Elizabeth site (11PK512) in the lower Illinois Valley (LIV), USA. Reported here are the standard score (z-score) comparisons of the measured skeletal differences of EZ 3-7-1 with a reference sample and a re-analysis of the individual's pathological changes, with special consideration placed on refining the disease diagnosis. The impressive preservation and meticulous recovery of these skeletal remains have provided the opportunity to identify the first and earliest archaeological example of an individual (EZ 3-7-1) with a combined genetic skeletal dysplasia, Leri-Weill dyschondrosteosis and achondroplasia.

摘要

如今,针对相互作用/重叠性遗传性骨骼疾病的研究在人群中较为罕见,而在考古背景下更是如此。一具成年女性(EZ 3-7-1)的骨骼遗骸于20世纪80年代在美国伊利诺伊州下游河谷(LIV)伊丽莎白遗址(11PK512)的中世纪林地时期(公元前50年 - 公元400年)被发掘出来。本文报告了EZ 3-7-1测量骨骼差异与参考样本的标准分数(z分数)比较,以及对该个体病理变化的重新分析,特别着重于完善疾病诊断。这些骨骼遗骸令人赞叹的保存状况和精心的发掘,为识别首例也是最早的患有遗传性骨骼发育不良合并症(勒里-韦伊软骨发育不全和软骨发育不全)的个体(EZ 3-7-1)提供了考古实例。

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