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口吃易感性的垂直传播与性别修饰表达

Vertical transmission of susceptibility to stuttering with sex-modified expression.

作者信息

Kidd K K, Heimbuch R C, Records M A

出版信息

Proc Natl Acad Sci U S A. 1981 Jan;78(1):606-10. doi: 10.1073/pnas.78.1.606.

DOI:10.1073/pnas.78.1.606
PMID:6941261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC319103/
Abstract

Stuttering is not usually considered genetic, although it has long been known to be familial. Data collected on 2035 relatives of 397 unrelated adult stutterers confirm and quantify the strong familial concentration. Our analytic approach to these family data, one that does not require specification of a genetic hypothesis, shows that stuttering among relatives occurs in a pattern indicating vertical transmission of a susceptibility to stuttering with sex-modified expression. Although simple Mendelian hypotheses are not sufficient to explain the observed pattern of stuttering in families, more complex genetic models can explain the pattern. In the past, such evidence has been considered sufficient, because it does not preclude the possibility of cultural transmission. However, certain cultural transmission hypotheses previously proposed for stuttering are excluded by these data. The findings in this study support a growing opinion among speech pathologists that most stuttering is a genetically inherited neurologic disorder.

摘要

口吃通常不被认为是遗传性的,尽管长期以来人们都知道它具有家族性。对397名无血缘关系的成年口吃者的2035名亲属收集的数据证实并量化了这种强烈的家族聚集性。我们对这些家族数据的分析方法,即一种不需要设定遗传假设的方法,表明亲属中的口吃呈现出一种模式,表明口吃易感性的垂直传递存在性别修饰表达。虽然简单的孟德尔假设不足以解释在家族中观察到的口吃模式,但更复杂的遗传模型可以解释这种模式。过去,这样的证据被认为是充分的,因为它并不排除文化传播的可能性。然而,这些数据排除了先前为口吃提出的某些文化传播假设。本研究的结果支持了言语病理学家中越来越多的一种观点,即大多数口吃是一种遗传性神经疾病。

相似文献

1
Vertical transmission of susceptibility to stuttering with sex-modified expression.口吃易感性的垂直传播与性别修饰表达
Proc Natl Acad Sci U S A. 1981 Jan;78(1):606-10. doi: 10.1073/pnas.78.1.606.
2
Evidence for a major gene influence on persistent developmental stuttering.存在主要基因影响持续性发育性口吃的证据。
Hum Biol. 2004 Jun;76(3):401-12. doi: 10.1353/hub.2004.0050.
3
Genetic aspects of early childhood stuttering.幼儿口吃的遗传学方面。
J Speech Hear Res. 1993 Aug;36(4):701-6. doi: 10.1044/jshr.3604.701.
4
The genetic basis of persistence and recovery in stuttering.口吃持续与恢复的遗传基础。
J Speech Lang Hear Res. 1997 Jun;40(3):567-80. doi: 10.1044/jslhr.4003.567.
5
Segregation analyses of stuttering.口吃的分离分析
Genet Epidemiol. 1984;1(3):245-53. doi: 10.1002/gepi.1370010304.
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Some environmental factors and hypotheses for stuttering in families with several stutterers.一些有多名口吃者的家庭中口吃的环境因素及假说。
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Recovery and persistence of stuttering among relatives of stutterers.口吃者亲属中口吃的恢复与持续情况。
J Speech Hear Disord. 1983 Nov;48(4):402-9. doi: 10.1044/jshd.4804.402.
8
Prevalence of stuttering.口吃的患病率。
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9
Familial relationship between Gilles de la Tourette's syndrome, attention deficit disorder, learning disabilities, speech disorders, and stuttering.抽动秽语综合征、注意力缺陷障碍、学习障碍、言语障碍和口吃之间的家族关系。
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10
A study of familial stuttering.
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J Speech Lang Hear Res. 2023 Mar 7;66(3):931-950. doi: 10.1044/2022_JSLHR-22-00126. Epub 2023 Feb 24.
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Predicting Persistent Developmental Stuttering Using a Cumulative Risk Approach.采用累积风险方法预测持续性发展性口吃。
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Genetic contributions to stuttering: the current evidence.口吃的遗传因素:当前证据
Mol Genet Genomic Med. 2017 Feb 19;5(2):95-102. doi: 10.1002/mgg3.276. eCollection 2017 Mar.
4
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.细胞内运输成分AP4E1中的罕见变异与持续性口吃之间的关联。
Am J Hum Genet. 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007.
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Characteristics of Fluency and Speech in Two Families With High Incidences of Stuttering.两个口吃高发家庭中流畅性和言语的特征
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Preschool speech articulation and nonword repetition abilities may help predict eventual recovery or persistence of stuttering.学龄前儿童的言语发音和非言语重复能力可能有助于预测口吃的最终恢复或持续。
J Fluency Disord. 2014 Sep;41:32-46. doi: 10.1016/j.jfludis.2014.06.001. Epub 2014 Jun 16.
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Using brain imaging to unravel the mysteries of stuttering.利用脑成像技术揭开口吃之谜。
Cerebrum. 2011 Jul;2011:12. Epub 2011 Aug 23.
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Genetic bases of stuttering: the state of the art, 2011.口吃的遗传基础:2011年的最新进展
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Genetic approaches to understanding the causes of stuttering.遗传方法理解口吃成因。
J Neurodev Disord. 2011 Dec;3(4):374-80. doi: 10.1007/s11689-011-9090-7. Epub 2011 Aug 18.
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Speech-induced suppression of evoked auditory fields in children who stutter.口吃儿童的言语诱发听觉诱发电位抑制。
Neuroimage. 2011 Feb 14;54(4):2994-3003. doi: 10.1016/j.neuroimage.2010.11.026. Epub 2010 Nov 21.

本文引用的文献

1
Familial stuttering patterns are not related to one measure of severity.家族性口吃模式与一种严重程度的衡量标准无关。
J Speech Hear Res. 1980 Sep;23(3):539-45. doi: 10.1044/jshr.2303.539.
2
The ability of stutterers and nonstutterers to initiate and terminate phonation during production of an isolated vowel.口吃者和非口吃者在发出单个元音时启动和终止发声的能力。
J Speech Hear Res. 1976 Jun;19(2):290-6. doi: 10.1044/jshr.1902.290.
3
Laryngeal muscle activity during stuttering.口吃期间的喉部肌肉活动。
J Speech Hear Res. 1978 Sep;21(3):538-62. doi: 10.1044/jshr.2103.538.