Abstract
An autosomal recessive nonsyndromic deafness locus, DFNB10, was previously localized to a 12-cM region near the telomere of chromosome 21 (21q22.3). This locus was discovered in a large, consanguineous Palestinian family. We have identified and ordered a total of 50 polymorphic microsatellite markers in 21q22.3, comprising 16 published and 34 new markers, precisely mapped and ordered on BAC/cosmid contigs. Using these microsatellite markers, the locus for DFNB10 has been refined to an area of less than 1 Mb between markers 1016E7.CA60 and 1151C12.GT45. Six previously published cDNAs were mapped to this critical region, and their genomic structures were determined to facilitate mutation analysis in DFNB10. All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. The new microsatellite markers and single nucleotide polymorphisms identified in this study should enable the refined mapping of other genetic diseases that map to 21q22.3. In addition, the critical region for DFNB10 has been reduced to a size amenable to an intensive positional cloning effort. (C) 2000 Academic Press.
| Original language | English |
|---|---|
| Pages (from-to) | 22-29 |
| Number of pages | 8 |
| Journal | Genomics |
| Volume | 68 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2000 Aug 15 |
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ASJC Scopus subject areas
- Genetics
Cite this
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. / Berry, Asher; Scott, Hamish S.; Kudo, Jun; Talior, Ilana; Korostishevsky, Michael; Wattenhofer, Marie; Guipponi, Michel; Barras, Christine; Rossier, Colette; Shibuya, Kazunori; Wang, Jun; Kawasaki, Kazuhiko; Asakawa, Shuichi; Minoshima, Shinsei; Shimizu, Nobuyoshi; Antonarakis, Stylianos; Bonné-Tamir, Batsheva.
In: Genomics, Vol. 68, No. 1, 15.08.2000, p. 22-29.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region
AU - Berry, Asher
AU - Scott, Hamish S.
AU - Kudo, Jun
AU - Talior, Ilana
AU - Korostishevsky, Michael
AU - Wattenhofer, Marie
AU - Guipponi, Michel
AU - Barras, Christine
AU - Rossier, Colette
AU - Shibuya, Kazunori
AU - Wang, Jun
AU - Kawasaki, Kazuhiko
AU - Asakawa, Shuichi
AU - Minoshima, Shinsei
AU - Shimizu, Nobuyoshi
AU - Antonarakis, Stylianos
AU - Bonné-Tamir, Batsheva
PY - 2000/8/15
Y1 - 2000/8/15
N2 - An autosomal recessive nonsyndromic deafness locus, DFNB10, was previously localized to a 12-cM region near the telomere of chromosome 21 (21q22.3). This locus was discovered in a large, consanguineous Palestinian family. We have identified and ordered a total of 50 polymorphic microsatellite markers in 21q22.3, comprising 16 published and 34 new markers, precisely mapped and ordered on BAC/cosmid contigs. Using these microsatellite markers, the locus for DFNB10 has been refined to an area of less than 1 Mb between markers 1016E7.CA60 and 1151C12.GT45. Six previously published cDNAs were mapped to this critical region, and their genomic structures were determined to facilitate mutation analysis in DFNB10. All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. The new microsatellite markers and single nucleotide polymorphisms identified in this study should enable the refined mapping of other genetic diseases that map to 21q22.3. In addition, the critical region for DFNB10 has been reduced to a size amenable to an intensive positional cloning effort. (C) 2000 Academic Press.
AB - An autosomal recessive nonsyndromic deafness locus, DFNB10, was previously localized to a 12-cM region near the telomere of chromosome 21 (21q22.3). This locus was discovered in a large, consanguineous Palestinian family. We have identified and ordered a total of 50 polymorphic microsatellite markers in 21q22.3, comprising 16 published and 34 new markers, precisely mapped and ordered on BAC/cosmid contigs. Using these microsatellite markers, the locus for DFNB10 has been refined to an area of less than 1 Mb between markers 1016E7.CA60 and 1151C12.GT45. Six previously published cDNAs were mapped to this critical region, and their genomic structures were determined to facilitate mutation analysis in DFNB10. All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. The new microsatellite markers and single nucleotide polymorphisms identified in this study should enable the refined mapping of other genetic diseases that map to 21q22.3. In addition, the critical region for DFNB10 has been reduced to a size amenable to an intensive positional cloning effort. (C) 2000 Academic Press.
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U2 - 10.1006/geno.2000.6253
DO - 10.1006/geno.2000.6253
M3 - Article
VL - 68
SP - 22
EP - 29
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -