Hughes D C, Legan P K, Steel K P, Richardson G P
MRC Institute of Hearing Research, University of Nottingham, United Kingdom.
Genomics. 1998 Feb 15;48(1):46-51. doi: 10.1006/geno.1997.5159.
alpha-Tectorin is one of the major noncollagenous components of the mammalian tectorial membrane in the inner ear. We have mapped the gene encoding alpha-tectorin to mouse chromosome 9 and human chromosome 11 in a known region of conserved synteny. Human YAC clones containing alpha-tectorin have been identified, demonstrating physical linkage to the anonymous marker D11S925. This places alpha-tectorin within the genetic interval that contains both the human nonsyndromic autosomal dominant deafness DFNA12 and the proximal limit of a subset of deletions within Jacobsen syndrome. Thus both DFNA12 and the hearing loss in some cases of Jacobsen syndrome may be due to haploinsufficiency for TECTA.
α-耳盖素是哺乳动物内耳盖膜的主要非胶原蛋白成分之一。我们已将编码α-耳盖素的基因定位到小鼠9号染色体和人类11号染色体上一个已知的保守同线性区域。已鉴定出含有α-耳盖素的人类酵母人工染色体(YAC)克隆,证明其与无名标记D11S925存在物理连锁。这将α-耳盖素置于一个遗传区间内,该区间既包含人类非综合征性常染色体显性耳聋DFNA12,也包含雅各布森综合征内一部分缺失的近端界限。因此,DFNA12以及某些雅各布森综合征病例中的听力损失可能都是由于TECTA单倍剂量不足所致。