Jain P K, Fukushima K, Deshmukh D, Ramesh A, Thomas E, Lalwani A K, Kumar S, Plopis B, Skarka H, Srisailapathy C R
Labortory of Molecular Genetics, National Insitute of Deafness and Other Communiable Disorders, National Institues of Health, Rockville, Maryland, 20850-3227, USA.
Hum Mol Genet. 1995 Dec;4(12):2391-4. doi: 10.1093/hmg/4.12.2391.
A locus for recessive neurosensory nonsyndromic hearing impairment maps to chromosome 9q13-q21 in two regionally separate consanguineous families from India. Each family demonstrates a LOD score greater than 4.5 to this region. D9S15, tightly linked to the Friedreich's ataxia locus, a region that has been defined with over 1 Mb of YAC contig information and several expressed sequences, is one of the flanking markers. In mice, the deafness (dn) locus maps to mouse chromosome 19 and flanking loci are syntenic to human chromosome 9q11-q21. The dn mouse is a potential model for the hearing impairment found in both these families.
来自印度的两个地区性隔离的近亲家庭中，隐性神经感觉非综合征性听力障碍的一个基因座定位于9号染色体q13-q21区域。每个家庭在该区域的对数优势分数均大于4.5。与弗里德赖希共济失调基因座紧密连锁的D9S15是侧翼标记之一，该区域已通过超过1 Mb的酵母人工染色体连续克隆信息和多个表达序列得以明确。在小鼠中，耳聋（dn）基因座定位于小鼠19号染色体，侧翼基因座与人类9号染色体q11-q21同线。dn小鼠是这两个家庭中发现的听力障碍的潜在模型。
