TY - JOUR
T1 - Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb)
AU - Wang, Cong Yi
AU - Shi, Jing Da
AU - Huang, Yi Qun
AU - Cruz, Pedro E.
AU - Ochoa, Bernardo
AU - Hawkins-Lee, Bobbilynn
AU - Davoodi-Semiromi, Abdoreza
AU - She, Jin Xiong
N1 - Funding Information:
This study was supported by a grant (1R01DK53266) from the National Institutes of Health. The authors thank all participating families for donating blood samples for this project. Special thanks are due to Dr. Richard A. Spritz for kindly supplying the P1 clone and to Dr. R. K. Wilson for providing expert suggestions on random sequencing.
PY - 1999/8/15
Y1 - 1999/8/15
N2 - Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted facial expression and urinary abnormalities. Previously, we mapped the UFS gene to chromosome 10q23-q24 and narrowed the interval to one YAC clone of 1410 kb. Here, we have constructed a BAC/PAC contig of the 1-Mb region using STS content mapping with 42 BAC/PAC-end sequences, 9 previously reported and 16 newly identified microsatellite markers, and 14 EST markers. A total of 26 polymorphic microsatellite markers were genotyped for 31 UFS patients from Colombia and 2 patients from the United States. Haplotype analyses suggest that the UFS gene is located within two overlapping BAC clones, a region of <360 kb of DNA sequence. We tested 42 EST markers previously mapped to the D10S1709-D10S603 interval against the BAC/PAC contig and identified 11 ESTs located in the 1-Mb region. Four of the 11 ESTs mapped to the 360-kb UFS critical region. Shotgun sequencing of the two BAC clones and BLASTN search of the E ST databases revealed 3 other ESTs contained in the UFS critical region. These results will facilitate the cloning and identification of the UFS gene.
AB - Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted facial expression and urinary abnormalities. Previously, we mapped the UFS gene to chromosome 10q23-q24 and narrowed the interval to one YAC clone of 1410 kb. Here, we have constructed a BAC/PAC contig of the 1-Mb region using STS content mapping with 42 BAC/PAC-end sequences, 9 previously reported and 16 newly identified microsatellite markers, and 14 EST markers. A total of 26 polymorphic microsatellite markers were genotyped for 31 UFS patients from Colombia and 2 patients from the United States. Haplotype analyses suggest that the UFS gene is located within two overlapping BAC clones, a region of <360 kb of DNA sequence. We tested 42 EST markers previously mapped to the D10S1709-D10S603 interval against the BAC/PAC contig and identified 11 ESTs located in the 1-Mb region. Four of the 11 ESTs mapped to the 360-kb UFS critical region. Shotgun sequencing of the two BAC clones and BLASTN search of the E ST databases revealed 3 other ESTs contained in the UFS critical region. These results will facilitate the cloning and identification of the UFS gene.
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U2 - 10.1006/geno.1999.5908
DO - 10.1006/geno.1999.5908
M3 - Article
C2 - 10458906
AN - SCOPUS:0344995248
SN - 0888-7543
VL - 60
SP - 12
EP - 19
JO - Genomics
JF - Genomics
IS - 1
ER -