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pN0.9

95679

Detects:
Genome: Homo sapiens
Gene symbol: SNRPN
Type of nucleic acid: genomic
Restriction enzyme: XbaI/NotI
Number of alleles: 2
Type of polymorphism: site
Alleles:
Allele Freq. Size (kb) Strains
4.2 XbaI fragment with 3 internal methylated NotI
sites
0.9 NotI subfragment resulting from absence of
methylation at 3 NotI sites
Organism
Homo sapiens
Clone type
Clone
Applications
Molecular biology
Product format
Dried
Shipping information
Rehydrate with TE
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ATCC determines the biosafety level of a material based on our risk assessment as guided by the current edition of Biosafety in Microbiological and Biomedical Laboratories (BMBL), U.S. Department of Health and Human Services. It is your responsibility to understand the hazards associated with the material per your organization’s policies and procedures as well as any other applicable regulations as enforced by your local or national agencies.

Detailed product information

General

Specific applications
contains sequence useful for DNA diagnostics Prader-Willi syndrome chromosome region
contains sequence useful for DNA diagnostics small nuclear ribonucleoprotein polypeptide N small nuclear ribonucleoprotein SM-D, small nuclear ribonucleoprotein polypeptide Sm-D

Characteristics

Comments
Restriction digests of the clone give the following sizes (kb): BamHI--4.0; EcoRI--3.6, 0.33; NotI--2.9, 0.88; PvuII--2.6, 1.0 0.33; XhoI--4.0.
Insert contains the following restriction sites (approximate kb from the 5' end): EcoRI--0.17, 0.63; PuvII--0.07.
Insert can be used to probe genomic DNA digested with NotI/XbaI to detect abnormalities diagnostic for Prader-Willi syndrome and Angelman syndrome (AS).
The probe detects a 4.2 kb fragment for normal maternal chromosomes, consistent with methylation of three NotI sites. An 0.9 kb fragment is detected for normal paternal chromosomes, consistent with the absence of methylation at these NotI sites.
Normal individuals will show fragments of both sizes. Absence of the 0.9 kb band is indicative of PWS. Absence of the 4.2 kb band is indicative of AS.
Insert contains a deletion breakpoint found in some cases of familial Prader-Willi syndrome (PWS).
The insert contains most of exon alpha (nt 1-66), also corresponding to nt 10-75 of GenBank accession J04615, and a portion of the following intron.
The 0.9 kb NotI fragment is derived from a 4.2 kb XbaI genomic DNA fragment which shows differential methylation at several rare restriction sites in normal maternal and paternal chromosomes.
Mycoplasma contamination
Not detected

Vector information

Construct size (kb)
3.900000095367432
Intact vector size
2.961
Vector name
pBluescript II SK-
Type of vector
phagemid
Host range
Escherichia coli
Vector end
NotI
Cloning sites
BssHII; KpnI; ApaI; DraII; XhoI; HincII; AccI; SalI; ClaI; HindIII; EcoRI; PstI; SmaI; BamHI; XbaI; NotI; EagI; SacI
Insert detection
lacZ'
Markers
ampR
Polylinker sites
BssHII; KpnI; ApaI; DraII; XhoI; HincII; AccI; SalI; ClaI; HindIII; EcoRI; PstI; SmaI; BamHI; XbaI; NotI; EagI; SacI
Replicon
pMB1; f1

Insert information

Insert size (kb)
0.90000000000000002
Type of DNA
genomic
Insert information
DESCRIPTION OF INSERT COMPONENT:
Cross references: DNA Seq. Acc.: L32702
Nucleotides 1-196 of the insert correspond to
nucleotides 216-411 of L32702.
Genome
Homo sapiens
Chromosome
15
15 q11-q12
Target gene
Prader-Willi syndrome chromosome region, small nuclear ribonucleoprotein polypeptide N
Gene name
small nuclear ribonucleoprotein polypeptide N
Gene product
small nuclear ribonucleoprotein polypeptide N( small nuclear ribonucleoprotein SM-D, small nuclear ribonucleoprotein polypeptide Sm-D) [SNRPN]
Gene symbol
SNRPN
Contains complete coding sequence
No
Insert end
NotI

Handling information

Handling notes
Restriction digests of the clone give the following sizes (kb): BamHI--4.0;
EcoRI--3.6, 0.33; NotI--2.9, 0.88; PvuII--2.6, 1.0 0.33; XhoI--4.0.
- ATCC staff

Insert contains a deletion breakpoint found in some cases of familial
Prader-Willi syndrome (PWS).
- Nat. Genet. 8: 52-58, 1994

The insert contains most of exon alpha (nt 1-66), also corresponding to nt 10-75
of GenBank accession J04615, and a portion of the following intron.
- Nat. Genet. 8: 52-58, 1994

The 0.9 kb NotI fragment is derived from a 4.2 kb XbaI genomic DNA fragment
which shows differential methylation at several rare restriction sites in normal
maternal and paternal chromosomes.
- Nat. Genet. 8: 52-58, 1994

Insert can be used to probe genomic DNA digested with NotI/XbaI to detect
abnormalities diagnostic for Prader-Willi syndrome and Angelman syndrome (AS).
- Nat. Genet. 8: 52-58, 1994

The probe detects a 4.2 kb fragment for normal maternal chromosomes, consistent
with methylation of three NotI sites. An 0.9 kb fragment is detected for normal
paternal chromosomes, consistent with the absence of methylation at these NotI
sites.
- Nat. Genet. 8: 52-58, 1994

Normal individuals will show fragments of both sizes. Absence of the 0.9 kb
band is indicative of PWS. Absence of the 4.2 kb band is indicative of AS.
- Nat. Genet. 8: 52-58, 1994

Insert contains the following restriction sites (approximate kb from the 5'
end): EcoRI--0.17, 0.63; PuvII--0.07.
- Nat. Genet. 8: 52-58, 1994

History

Cross references
GenBank L32702

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Permits & Restrictions

Import Permit for the State of Hawaii

If shipping to the U.S. state of Hawaii, you must provide either an import permit or documentation stating that an import permit is not required. We cannot ship this item until we receive this documentation. Contact the Hawaii Department of Agriculture (HDOA), Plant Industry Division, Plant Quarantine Branch to determine if an import permit is required.

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References

Curated Citations

Sutcliffe JS, et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat. Genet. 8: 52-58, 1994. PubMed: 7987392

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