title: Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
abstract: DFNB7 and DFNB11, two loci for autosomal recessive nonsyndromic hearing loss (ARNSHL), have been mapped to chromosome 9q13-21 in separate consanguineous families. Using a radiation hybrid map, we have determined the correct marker order in the DFNB7/11 region and have demonstrated that the DFNB11 locus resides within a redefined DFNB7 interval. The gene(s) responsible for ARNSHL at these loci resides within an approximately 1 cM interval bounded by markers D9S1806 (centromeric) and D9S769 (telomeric). A recently discovered Indian family confirms the new telomeric boundary. To assist in the identification and cloning of candidate genes, YAC and PAC contigs were constructed. A total of 19 YAC and 23 PAC clones were utilized to span the affected region and ensure double coverage throughout. Twenty-two previously published STSs and 21 new STSs were used to determine marker order and confirm the integrity of the contig. Using a positional cloning strategy we have identified three cochlear expressed genes that map to the DFNB7/11 interval.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
authors.forename: J H
authors.initials: JH
authors.lastname: Greinwald
authors.forename: D A
authors.initials: DA
authors.lastname: Scott
authors.forename: J R
authors.initials: JR
authors.lastname: Marietta
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: J
authors.initials: J
authors.lastname: Manaligod
authors.forename: A
authors.initials: A
authors.lastname: Ramesh
authors.forename: R I
authors.initials: RI
authors.lastname: Zbar
authors.forename: M L
authors.initials: ML
authors.lastname: Kraft
authors.forename: K
authors.initials: K
authors.lastname: Elbedour
authors.forename: Y
authors.initials: Y
authors.lastname: Yairi
authors.forename: M
authors.initials: M
authors.lastname: Musy
authors.forename: A B
authors.initials: AB
authors.lastname: Skvorak
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: C R
authors.initials: CR
authors.lastname: Srisailapathy
authors.forename: M
authors.initials: M
authors.lastname: Lovett
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D003241:Consanguinity; D005260:Female; D015870:Gene Expression; D005819:Genetic Markers; D005838:Genotype; D006312:Hearing Loss, Bilateral / Q000151:congenital / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D016324:Sequence Tagged Sites
chemical_list: D005819:Genetic Markers