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用于耳鼻咽喉疾病早期诊断的基因分析。

Genetic analysis for early diagnosis of otorhinolaryngeal diseases.

作者信息

Propping Peter

机构信息

Institute for Genetic, University Hospital Bonn, Germany.

出版信息

GMS Curr Top Otorhinolaryngol Head Neck Surg. 2008;7:Doc02. Epub 2010 Oct 7.

PMID:22073089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3199837/
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.

摘要

为了能够进行遗传分析，熟悉人类遗传学的概念和方法很重要。遗传病的可预测程度部分取决于形式遗传学，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再到产前诊断。在医生向患者充分解释程序的初步咨询之后，患者必须给予完全同意。本文总结并评估了有关重要耳鼻咽喉疾病遗传分析的当前知识，包括遗传性听力障碍、嗅觉功能障碍、遗传性肿瘤疾病、遗传性综合征和发育异常。此外，本文讨论了影响嗓音和言语的遗传疾病，强调了人类遗传咨询的相关性，并讨论了将遗传分析纳入一般医学的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/14ccce157a31/CTO-07-02-g-003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/d3ae4710177a/CTO-07-02-t-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/6b9b2a77eab8/CTO-07-02-t-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/7cfe83163d4d/CTO-07-02-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/bd2cddddbe51/CTO-07-02-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/14ccce157a31/CTO-07-02-g-003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/d3ae4710177a/CTO-07-02-t-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/6b9b2a77eab8/CTO-07-02-t-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/7cfe83163d4d/CTO-07-02-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/bd2cddddbe51/CTO-07-02-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4b9/3199837/14ccce157a31/CTO-07-02-g-003.jpg

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