TY - JOUR
T1 - A YAC contig of the region containing the spinal muscular atrophy gene (SMA)
T2 - Identification of an unstable region
AU - Carpten, John D.
AU - DiDonato, Christine J.
AU - Ingraham, Susan E.
AU - Wagner-McPherson, Caryn
AU - Nieuwenhuijsen, Bart W.
AU - Wasmuth, John J.
AU - Burghes, Arthur H M
PY - 1994/11/15
Y1 - 1994/11/15
N2 - We report a 3.0-Mb YAC contig of the region 5q11.2-q13.3, which is where the spinal muscular atrophy gene has been localized. Three total genomic YAC libraries were screened by the polymerase chain reaction (PCR), and 45 YACs were recovered. These YACs were characterized for sequence tag site (STS) content, and overlaps were confirmed by vectorette PCR. of the 45 YACs, 20 were isolated with the polymorphic marker CATT-1, which demonstrates significant allelic association with the SMA gene and maps within the 850-kb interval defined by the markers D5S557 and D5S823. Haplotyping of these YACs and their mother cell line indicates that the majority of YACs from this region contain deletions. Furthermore, a 1.9-Mb CATT-1 YAC that was negative for MAP1B and D5S435 and nonchimeric by FISH analysis provides a minimum distance between MAP1B and D5S435.
AB - We report a 3.0-Mb YAC contig of the region 5q11.2-q13.3, which is where the spinal muscular atrophy gene has been localized. Three total genomic YAC libraries were screened by the polymerase chain reaction (PCR), and 45 YACs were recovered. These YACs were characterized for sequence tag site (STS) content, and overlaps were confirmed by vectorette PCR. of the 45 YACs, 20 were isolated with the polymorphic marker CATT-1, which demonstrates significant allelic association with the SMA gene and maps within the 850-kb interval defined by the markers D5S557 and D5S823. Haplotyping of these YACs and their mother cell line indicates that the majority of YACs from this region contain deletions. Furthermore, a 1.9-Mb CATT-1 YAC that was negative for MAP1B and D5S435 and nonchimeric by FISH analysis provides a minimum distance between MAP1B and D5S435.
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U2 - 10.1006/geno.1994.1626
DO - 10.1006/geno.1994.1626
M3 - Article
C2 - 7698758
AN - SCOPUS:0028606738
VL - 24
SP - 351
EP - 356
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -