DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1
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DFNB40 是一种隐性形式的感音神经性听力损失，映射到染色体 22q11.21–12.1
DOI：
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发表时间：
2003
影响因子：
5.2
通讯作者：
C. Petit
中科院分区：
文献类型：
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作者：
S. Delmaghani;A. Aghaie;Sylvie Compain;Afsaneh Ataie;A. Lemainque;S. Zeinali;M. Lathrop;D. Weil;C. Petit
我们报告了一种隐性耳聋(DFNB)的新定位，通过连锁分析，在一个伊朗血缘家庭。受影响的个体患有语前深度感音神经性听力损失。全基因组分析发现了一个新的基因座DFNB40，它位于染色体22q11.21-12.1上标记D22S427和D22S1144之间的∼9 Mb区间。D22S1174的最高Lod评分为3.09。由于Bronx Waltzer(BV)小鼠突变体的特征是华尔兹行为、耳聋和耳蜗内毛细胞变性，因此我们认为DFNB40和BV可能是由同源基因缺陷引起的。
We report on a novel localization for a recessive form of deafness (DFNB), by linkage analysis in an Iranian consanguineous family. Affected individuals suffer from prelingual profound sensorineural hearing loss. Genome-wide analysis led to the characterization of a new locus, DFNB40, which maps to an ∼9 Mb interval between markers D22S427 and D22S1144 at chromosome 22q11.21–12.1. Maximum lod score of 3.09 was obtained with D22S1174. Since the Bronx waltzer (bv) mouse mutant, characterized by waltzing behavior, deafness, and degeneration of cochlear inner hair cells, has been mapped to the syntenic region on murine chromosome 5, we suggest that DFNB40 and bv may result from orthologous gene defects.
影响因子：
3.5
作者：
Funke, B;Epstein, JA;Morrow, BE
通讯作者：
Morrow, BE