Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
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dHPLC 对法国南部感音神经性耳聋患者 CX26 突变筛查的评估。
DOI：
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
A. Roux
中科院分区：
文献类型：
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作者：
N. Pallares‐Ruiz;P. Blanchet;M. Mondain;S. Low;J. Demaille;M. Claustres;A. Roux
GJB2基因（或CX26， connexin 26）是引起非综合征性感音神经性听力损失（NSSNHL）的主要基因之一。超过50个序列变异被确定为多态性或与常染色体或隐性形式的耳聋相关。虽然主要突变35delG很容易被PCR消化检测到；它通常以复合杂合状态存在于我们的人群中，并伴有复发性，但不太频繁的突变。CX26基因由单个编码外显子组成，有利于测序策略。然而，为了进行突变筛选，有必要使用高通量和高成本效益的基因分型方法。因此，我们对已知CX26基因突变患者的变性高效液相色谱（dHPLC）进行了评估。我们认为，dHPLC分析适合于快速、可靠地扫描耳聋患者的基因。
The GJB2 gene (or CX26 for connexin 26) is one of the major genes causing nonsyndromic sensorineural hearing loss (NSSNHL). More than 50 sequence variations have been identified as polymorphisms or associated with autosomal or recessive forms of deafness. Though a major mutation, 35delG, is easily detectable by PCR digest; it is often present in the compound heterozygous state in our population in trans with recurrent, but less frequent, mutations. The CX26 gene is composed of a single coding exon that facilitates sequencing strategies. However, for mutation screening purposes, it is necessary to use high-throughput and cost-effective genotyping methods. Therefore, we have assessed denaturing high-performance liquid chromatography (dHPLC) in patients with known mutations in the CX26 gene. We conclude that dHPLC analysis is suitable for rapid and reliable scanning of the gene in deaf patients.
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影响因子：
120.7
作者：
Green, GE;Scott, DA;Smith, RJH
通讯作者：
Smith, RJH
影响因子：
9.8
作者：
Kelley, PM;Harris, DJ;Kimberling, WJ
通讯作者：
Kimberling, WJ
影响因子：
3.5
作者：
Zelante, L;Gasparini, P;Fortina, P
通讯作者：
Fortina, P
DOI：
10.1002/(sici)1096-8628(19990924)89:3
发表时间：
1999-09-24
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
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作者：
Cohn, ES;Kelley, PM
通讯作者：
Kelley, PM