PMID- 1363801
OWN - NLM
STAT- MEDLINE
DCOM- 19930607
LR  - 20190509
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 1
IP  - 6
DP  - 1992 Sep
TI  - Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by 
      YAC cloning and FISH analysis.
PG  - 417-25
AB  - Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental 
      retardation disorders associated with deletions of proximal 15q (q11-q13) of 
      different parental origin. Yeast artificial chromosome (YAC) clones were isolated 
      for 9 previously mapped DNA probes from this region, and for one newly derived 
      marker, LS6-1 (D15S113). A YAC contig of 1-1.5 Mb encompassing four markers 
      (ML34, IR4-3R, PW71, and TD189-1) was constructed. Multi-color fluorescence in 
      situ hybridization (FISH) analysis of interphase nuclei was combined with YAC 
      contig information to provide the following order of markers: 
      cen-IR39-ML34-IR4-3R-PW71-TD189-1-LS6++ +-1-TD3-21-GABRB3-IR10-1-CMW1-tel. FISH 
      analysis was performed on 8 cases of PWS and 3 cases of AS, including 5 patients 
      with normal karyotypes. All eleven patients were deleted for YACs in the interval 
      from IR4-3R to GABRB3. On the proximal side of the deletion interval, 10/10 
      breakpoints fell within a single ML34 YAC of 370 kb. On the distal side, 8/9 
      breakpoints fell within a single IR10-1 YAC of 200 kb. These results indicate a 
      striking consistency in the location of the proximal and distal breakpoints in 
      PWS and AS patients. FISH analysis on a previously reported case of familial AS 
      confirmed a submicroscopic deletion including YACs corresponding to LS6-1, TD3-21 
      and GABRB3 and supports the separation of the PWS and AS critical regions. Since 
      these three YACs do not overlap each other, the minimum size of the AS critical 
      region is > or = 650 kb.
FAU - Kuwano, A
AU  - Kuwano A
AD  - Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
FAU - Mutirangura, A
AU  - Mutirangura A
FAU - Dittrich, B
AU  - Dittrich B
FAU - Buiting, K
AU  - Buiting K
FAU - Horsthemke, B
AU  - Horsthemke B
FAU - Saitoh, S
AU  - Saitoh S
FAU - Niikawa, N
AU  - Niikawa N
FAU - Ledbetter, S A
AU  - Ledbetter SA
FAU - Greenberg, F
AU  - Greenberg F
FAU - Chinault, A C
AU  - Chinault AC
AU  - et al.
LA  - eng
GR  - HD20619/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA Probes)
RN  - 0 (DNA, Satellite)
RN  - 0 (Genetic Markers)
RN  - 0 (Oligodeoxyribonucleotides)
RN  - 0 (Receptors, GABA-A)
RN  - 9007-49-2 (DNA)
SB  - IM
EIN - Hum Mol Genet 1992 Dec;1(9):784
MH  - Angelman Syndrome/*genetics
MH  - Base Sequence
MH  - Cells, Cultured
MH  - Chromosome Banding
MH  - Chromosome Mapping/methods
MH  - *Chromosomes, Fungal
MH  - *Chromosomes, Human, Pair 15
MH  - Cloning, Molecular/methods
MH  - DNA/blood/genetics/isolation & purification
MH  - DNA Probes
MH  - DNA, Satellite/genetics
MH  - Gene Library
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization
MH  - Karyotyping
MH  - Lymphocytes/physiology
MH  - Molecular Sequence Data
MH  - Oligodeoxyribonucleotides
MH  - Polymerase Chain Reaction/methods
MH  - Polymorphism, Restriction Fragment Length
MH  - Prader-Willi Syndrome/*genetics
MH  - Receptors, GABA-A/genetics
MH  - Repetitive Sequences, Nucleic Acid
MH  - Saccharomyces cerevisiae/genetics
MH  - Sequence Deletion
EDAT- 1992/09/01 00:00
MHDA- 1992/09/01 00:01
CRDT- 1992/09/01 00:00
PHST- 1992/09/01 00:00 [pubmed]
PHST- 1992/09/01 00:01 [medline]
PHST- 1992/09/01 00:00 [entrez]
AID - 10.1093/hmg/1.6.417 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1992 Sep;1(6):417-25. doi: 10.1093/hmg/1.6.417.