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一种估算遗传性听力损失患病率的新方法:基于俄罗斯人口普查数据的手语使用者分布分析。

A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia.

机构信息

Laboratory of Molecular Biology, MK Ammosov North-Eastern Federal University, Yakutsk, Russia.

Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia.

出版信息

PLoS One. 2020 Nov 30;15(11):e0242219. doi: 10.1371/journal.pone.0242219. eCollection 2020.

DOI:10.1371/journal.pone.0242219
PMID:33253245
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7703874/
Abstract

The absence of comparable epidemiological data challenges the correct estimation of the prevalence of congenital hearing loss (HL) around the world. Sign language (SL) is known as the main type of communication of deaf people. We suggest that the distribution of SL can be interpreted as an indirect indicator of the prevalence of congenital HL. Since a significant part of congenital HL is due to genetic causes, an assessment of the distribution of SL users can reveal regions with an extensive accumulation of hereditary HL. For the first time, we analyzed the data on the distribution of SL users that became available for the total population of Russia by the 2010 census. Seventy-three out of 85 federal regions of Russia were ranked into three groups by the 25th and 75th percentiles of the proportion of SL users: 14 regions-"low proportion"; 48 regions-"average proportion"; and 11 regions-"high proportion". We consider that the observed uneven prevalence of SL users can reflect underlying hereditary forms of congenital HL accumulated in certain populations by specific genetic background and population structure. At least, the data from this study indicate that the highest proportions of SL users detected in some Siberian regions are consistent with the reported accumulation of specific hereditary HL forms in indigenous Yakut, Tuvinian and Altaian populations.

摘要

缺乏可比的流行病学数据,使得正确估计全球先天性听力损失 (HL) 的患病率变得具有挑战性。手语 (SL) 被认为是聋人的主要交流方式。我们认为,SL 的分布可以被解释为先天性 HL 患病率的间接指标。由于先天性 HL 的很大一部分是由遗传原因引起的,因此对 SL 用户分布的评估可以揭示遗传性 HL 广泛积累的地区。我们首次分析了 2010 年俄罗斯人口普查中可获得的俄罗斯总人口中 SL 用户分布的数据。根据 SL 用户比例的第 25 和 75 百分位数,俄罗斯 85 个联邦区中的 73 个被分为三组:14 个地区为“低比例”;48 个地区为“中等比例”;11 个地区为“高比例”。我们认为,观察到的 SL 用户分布不均可能反映了特定遗传背景和人口结构下某些人群中积累的潜在遗传性先天性 HL 形式。至少,这项研究的数据表明,在一些西伯利亚地区检测到的 SL 用户的最高比例与报告的在当地雅库特人、图瓦人和阿尔泰人中积累的特定遗传性 HL 形式是一致的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37dd/7703874/21b434a16d48/pone.0242219.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37dd/7703874/41ad4862c6c3/pone.0242219.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37dd/7703874/21b434a16d48/pone.0242219.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37dd/7703874/41ad4862c6c3/pone.0242219.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37dd/7703874/21b434a16d48/pone.0242219.g002.jpg

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本文引用的文献

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Genes (Basel). 2020 Jul 21;11(7):833. doi: 10.3390/genes11070833.
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Prevalence of permanent childhood hearing loss detected at the universal newborn hearing screen: Systematic review and meta-analysis.普遍新生儿听力筛查发现的永久性儿童听力损失的患病率:系统评价和荟萃分析。
PLoS One. 2019 Jul 11;14(7):e0219600. doi: 10.1371/journal.pone.0219600. eCollection 2019.
3
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).
一名来自东西伯利亚雅库特患者(俄罗斯萨哈共和国)的罕见瓦登伯革氏综合征病例,其基因中存在无义变异c.772C>T(p.Arg259*)导致单侧听力丧失。
Int J Circumpolar Health. 2019 Dec;78(1):1630219. doi: 10.1080/22423982.2019.1630219.
4
Unique Mutational Spectrum of the Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).俄罗斯图瓦人(南西伯利亚)耳聋相关基因的独特突变谱及其致病性:罕见变异 c.516G>C(p.Trp172Cys)的高发生率。
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5
[Epidemiology of hearing loss in children of the first year of life].[一岁儿童听力损失的流行病学]
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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.来自卡拉恰伊-切尔克斯共和国的原发性小头畸形病例为小头畸形和塞克尔综合征谱系障碍提供了额外支持。
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