Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C
Unité de Génétique Moléculaire Humaine, (URA CNRS 1445), Institut Pasteur, Paris, France.
Nat Genet. 1994 Jan;6(1):24-8. doi: 10.1038/ng0194-24.
Non-syndromic, recessively inherited deafness is the most predominant form of severe inherited childhood deafness. Until now, no gene responsible for this type of deafness has been localized, due to extreme genetic heterogeneity and limited clinical differentiation. Linkage analyses using highly polymorphic microsatellite markers were performed on two consanguineous families from Tunisia affected by this form of deafness. The deafness was profound, fully penetrant and prelingual. A maximum two-point lod score of 9.88 (theta = 0.001) was found with a marker detecting a 13q locus (D13S175). Linkage was also observed to the pericentromeric 13q12 loci D13S115 and D13S143. These data map this neurosensory deafness gene to the same region of chromosome 13q as the gene for severe, childhood autosomal recessive muscular dystrophy.
非综合征性隐性遗传性耳聋是儿童严重遗传性耳聋最主要的形式。迄今为止，由于极端的遗传异质性和有限的临床鉴别能力，尚未定位出导致此类耳聋的基因。利用高度多态性微卫星标记对来自突尼斯的两个患这种耳聋的近亲家庭进行了连锁分析。耳聋严重，完全显性且发生在语言习得前。在一个检测13q位点（D13S175）的标记上发现最大两点连锁lod值为9.88（θ = 0.001）。在着丝粒周围的13q12位点D13S115和D13S143也观察到连锁。这些数据将这个神经感觉性耳聋基因定位到与严重儿童常染色体隐性遗传性肌肉萎缩症基因相同的13q染色体区域。
