Genetic analysis for early diagnosis of otorhinolaryngeal diseases.

GMS current topics in otorhinolaryngology, head and neck surgery Pub Date : 2008-01-01 Epub Date: 2010-10-07
Peter Propping
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Abstract

Familiarity with the concepts and methods of human genetics is important in order to be able to perform genetic analysis. The grade of predictability of a genetic disease is partly given by formal genetics but also depends on the importance of the mutated gene for the phenotype.Possibilities for genetic analysis range from differential diagnosis to predictive diagnosis to prenatal diagnosis. After initial consultation in which the physician fully explains the procedure to the patient, it is mandatory that the patient give his full consent.This article summarises and evaluates current knowledge about genetic analysis of important otorhinolaryngeal diseases, including hereditary hearing disabilities, olfactory malfunction, hereditary tumorous diseases, hereditary syndromes and dysplasias. In addition, this article discusses genetic diseases that affect voice and speech, highlights the relevance of human genetic consultation and discusses the importance of embedding genetic analysis in medicine in general.

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耳鼻咽喉疾病早期诊断的遗传分析。
为了能够进行遗传分析,熟悉人类遗传学的概念和方法是重要的。遗传疾病的可预测性的等级部分是由正式的遗传学决定的,但也取决于突变基因对表型的重要性。遗传分析的可能性范围从鉴别诊断到预测诊断到产前诊断。在医生向病人充分解释手术程序的初步咨询后,病人必须完全同意。本文对遗传性听力障碍、嗅觉功能障碍、遗传性肿瘤疾病、遗传性综合征和发育不良等重要耳鼻喉疾病的遗传分析进行了综述和评价。此外,本文还讨论了影响声音和言语的遗传疾病,强调了人类遗传咨询的相关性,并讨论了在医学中嵌入遗传分析的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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