A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness ( dn ) locus

Autor: Jain, Pawan K., Fukushima, Kunihiro, Deshmukh, Dilip, Ramesh, Arabandi, Thomas, Elizabeth, Lalwani, Anil K., Kumar, Subrinder, Ploplis, Barbara, Skarka, Hana, Srisailapathy, C. R. Srikumari, Wayne, Sigrid, Zbar, Ross I. S., Verma, Ishwar C., Smith, Richard J. H., Wilcox, Edward R.
Rok vydání: 1995
Předmět:
Popis: 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.
Databáze: OpenAIRE