Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
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.
Greinwald
J H
JH
Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
Scott
D A
DA
Marietta
J R
JR
Carmi
R
R
Manaligod
J
J
Ramesh
A
A
Zbar
R I
RI
Kraft
M L
ML
Elbedour
K
K
Yairi
Y
Y
Musy
M
M
Skvorak
A B
AB
Van Camp
G
G
Srisailapathy
C R
CR
Lovett
M
M
Morton
C C
CC
Sheffield
V C
VC
Smith
R J
RJ
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
D005819:Genetic Markers