Is DFNA5 a susceptibility gene for age-related hearing impairment?
Is DFNA5 a susceptibility gene for age-related hearing impairment?
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DFNA5 是年龄相关性听力障碍的易感基因吗？
DOI：
10.1038/sj.ejhg.5200878
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
Baldwin,ClintonT
中科院分区：
文献类型：
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作者：
VanLaer,Lut;DeStefano,AnitaL;Myers,RichardH;Flothmann,Kris;Thys,Sofie;Fransen,Erik;Gates,GeorgeA;VanCamp,Guy;Baldwin,ClintonT
DFNA 5的突变导致一种听力损失，与经常观察到的年龄相关性听力损伤（ARHI）非常相似。听力损失是感音神经性的，进行性的，从高频开始。由于DFNA 5被认为是一个很好的候选ARHI易感基因，我们进行了连锁分析，以定量测量高频听力损失。然而，没有显着的连锁ARHI和微卫星标记从DFNA5区域可以检测到。随后，分析DFNA 5编码区的单核苷酸多态性（SNP）。选择导致氨基酸取代的两个SNP（P142 H和V207 M）用于进一步分析。使用这些SNP，进行基于随机个体集合的关联研究和病例对照关联研究。在两种研究设计中，听力良好和听力受损个体之间的基因型没有显着差异。我们的结论是，DFNA 5和ARHI之间不存在强关联。
A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment (ARHI). The hearing loss is sensorineural, progressive and starts at the high frequencies. As DFNA5 was considered an excellent candidate ARHI susceptibility gene, we performed linkage analysis to a quantitive measure of high frequency hearing loss. However, no significant linkage between ARHI and microsatellite markers from the DFNA5 region could be detected. Subsequently, the DFNA5 coding region was analysed for single nucleotide polymorphisms (SNPs). Two SNPs leading to amino-acid substitutions (P142H and V207M) were selected for further analysis. Using these SNPs, an association study based on a collection of random individuals, and a case-control association study were performed. No significant differences in genotypes between good hearing and hearing impaired individuals could be detected in either study design. We conclude that there exists no strong association between DFNA5 and ARHI.
影响因子：
9.8
作者：
Almasy, L;Blangero, J
通讯作者：
Blangero, J
影响因子：
3.7
作者：
Karlsson, KK;Harris, JR;Svartengren, M
通讯作者：
Svartengren, M
影响因子：
--
作者：
Gates, GA;Couropmitree, NN;Myers, RH
通讯作者：
Myers, RH