caa a22 4500 397574991 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.165 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.165 Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan [Elektronische Daten] [Andres Veske, Ralph Oehlmann, Farah Younus, Aisha Mohyuddin, Bertram Müller-Myhsok, S. Qasim Mehdi, Andreas Gal] Autosomal recessive childhood-onset non-syndromic deafness is one of the most frequent forms of inherited hearing impairment. Recently five different chromosomal regions, 7q31, 11q13.5, 13q12, 14q and the per-icentromeric region of chromosome 17, have been shown to harbour disease loci for this type of neurosensory deafness. We have studied a large family from Pakistan, containing several consanguineous marriages and segregating for a recessive non-syndromic childhood-onset deafness. Linkage analysis mapped the disease locus (DFNB8) on the distal long arm of chromosome 21, most likely between D21S212 and D21S1225 with the highest lod score of 7.31 at θ = 0.00 for D21S1575 on 21q22.3. © 1996 Oxford University Press Veske Andres Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Butenfeld 32, D-22529 Hamburg, Germany aut Oehlmann Ralph Abteilung für Molekulargenetik, Bernhard Nocht Institut für Tropenmedizin, D-20359 Hamburg, Germany aut Younus Farah Biomedical and Genetic Engineering Division, Khan Research Laboratories, Islamabad, Pakistan aut Mohyuddin Aisha Biomedical and Genetic Engineering Division, Khan Research Laboratories, Islamabad, Pakistan aut Müller-Myhsok Bertram Abteilung für Molekulargenetik, Bernhard Nocht Institut für Tropenmedizin, D-20359 Hamburg, Germany aut Qasim Mehdi S. Biomedical and Genetic Engineering Division, Khan Research Laboratories, Islamabad, Pakistan aut Gal Andreas Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Butenfeld 32, D-22529 Hamburg, Germany aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 165-168 0964-6906 5:1<165 1996 5 hmg https://doi.org/10.1093/hmg/5.1.165 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.165 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Veske Andres Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Butenfeld 32, D-22529 Hamburg, Germany aut NATIONALLICENCE 700 1- Oehlmann Ralph Abteilung für Molekulargenetik, Bernhard Nocht Institut für Tropenmedizin, D-20359 Hamburg, Germany aut NATIONALLICENCE 700 1- Younus Farah Biomedical and Genetic Engineering Division, Khan Research Laboratories, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Mohyuddin Aisha Biomedical and Genetic Engineering Division, Khan Research Laboratories, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Müller-Myhsok Bertram Abteilung für Molekulargenetik, Bernhard Nocht Institut für Tropenmedizin, D-20359 Hamburg, Germany aut NATIONALLICENCE 700 1- Qasim Mehdi S. Biomedical and Genetic Engineering Division, Khan Research Laboratories, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Gal Andreas Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Butenfeld 32, D-22529 Hamburg, Germany aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 165-168 0964-6906 5:1<165 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford