scholarly journals Establishment of Sequence-Tagged Sites on 15q11-q13 byAlu-Vector PCR Cloning of Yac-Generated Fragments

1996 ◽  
Vol 12 (4) ◽  
pp. 241-246
Author(s):  
W. S. Kim ◽  
Z. M. Deng ◽  
N. T. Nassif ◽  
A. Smith ◽  
R. J. Trent

Angelman syndrome (AS) is caused by the loss of function of undefined gene(s) on human chromosome 15. The majority of subjects have deletions involving maternally-derived chromosome 15q II-q 13, and the shortest region of deletion overlap (SRO) has been localized to the region between D15S10 and D15S113. In this study, yeast artificial chromosomes (YACs), 6G-D4, 9H-D2 and 37D-F9, mapping within the AS SRO, were isolated from the ICI Y AC library.Alu-vector PCR products were amplified from the YACs and from YACs A229A2 and A33FI 0 which had been obtained from the St. Louis Y AC library. The PCR products were cloned and sequenced, and three new sequence-tagged sites were generated within the AS SRO, facilitating the characterization of gene(s) involved in the Angelman syndrome.

1991 ◽  
Vol 10 (4) ◽  
pp. 301-310 ◽  
Author(s):  
M. BELLIS ◽  
A. GÉRARD ◽  
J.P. CHARLIEU ◽  
B. MARÇAIS ◽  
M.E. BRUN ◽  
...  

1992 ◽  
Vol 61 (4) ◽  
pp. 263-265 ◽  
Author(s):  
W. Stock ◽  
S.C. Chandrasekharappa ◽  
W.L. Neuman ◽  
M.M. LeBeau ◽  
B.H. Brownstein ◽  
...  

1994 ◽  
Vol 65 (1-2) ◽  
pp. 136-139 ◽  
Author(s):  
E. Chang ◽  
J. Luna ◽  
J. Giacalone ◽  
D. Uyar ◽  
GA. Silverman ◽  
...  

Genomics ◽  
1997 ◽  
Vol 42 (3) ◽  
pp. 467-473 ◽  
Author(s):  
Anamaria A. Camargo ◽  
Katja Fischer ◽  
Michael Lanzer ◽  
Hernando A. del Portillo

1995 ◽  
Vol 5 (5) ◽  
pp. 427-443 ◽  
Author(s):  
J R Korenberg ◽  
X N Chen ◽  
S Mitchell ◽  
S Fannin ◽  
S Gerwehr ◽  
...  

1996 ◽  
Vol 45 (1-2) ◽  
pp. 217-220 ◽  
Author(s):  
T. Buchholz ◽  
S. Schuffenhauer ◽  
K. Evans ◽  
L. Robson ◽  
B. Appleton ◽  
...  

Angelman syndrome (AS) is caused by the loss of function of yet unidentified gene(s) which map within 15q 11-13 and show monoallelic expression from the maternal allele. Lack of the maternal allele(s), due to either a deletion on the maternal chromosome 15 (about 70% of AS patients) or a paternal uniparental disomy (UPD)15 (<5%), are the most common molecular defects in AS. Prader-Willi syndrome (PWS) also maps to proximal 15q, but is caused by the loss of function of paternally expressed gen(s) [1]. Here we describe clinical, cytogenetic and molecular data for two non-related patients with AS who carry a nonmosaic extra cromosome inv dup(15).


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