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| 产品名称： | pN0.9 |
|---|---|
| 商品货号： | TS179453 |
| Designations： | pN0.9 |
| GenBank Number： | L32702 |
| Species： | Homo sapiens, human |
| Depositors： | AL Beaudet |
| 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 |
| Vector： | Construct size (kb): 3.900000095367432 DESCRIPTION OF VECTOR COMPONENT: Name of vector: pBluescript II SK- Intact vector size: 2.961 Type of vector: phagemid Vector end: NotI Vector end: NotI Cloning sites: BssHII KpnI ApaI DraII XhoI HincII AccI SalI ClaI HindIII EcoRI PstI SmaI BamHI XbaI NotI EagI SacI Polylinker sites: BssHII KpnI ApaI DraII XhoI HincII AccI SalI ClaI HindIII EcoRI PstI SmaI BamHI XbaI NotI EagI SacI Host range: Escherichia coli Features (with orientation and position when available): insert detection: lacZ marker(s): ampR replicon: pMB1, f1 Cross references: |
| Insert： | DNA: genomic DESCRIPTION OF INSERT COMPONENT: Genome: Homo sapiens Gene symbol: SNRPN Gene name: small nuclear ribonucleoprotein polypeptide N Contains complete coding sequence?: N Chromosome: 15; Localization: 15 q11-q12 Type of DNA: genomic Insert end: NotI Insert end: NotI Insert size (kb): 0.9 Cross references: DNA Seq. Acc.: L32702 Nucleotides 1-196 of the insert correspond to nucleotides 216-411 of L32702. Insert lengths(kb): 0.8999999761581421 Gene product: small nuclear ribonucleoprotein polypeptide N( small nuclear ribonucleoprotein SM-D, small nuclear ribonucleoprotein polypeptide Sm-D) SNRPN Target Gene: Prader-Willi syndrome chromosome region, small nuclear ribonucleoprotein polypeptide N |
| Insert Size (kb)： | 0.900 |
| Media： | ATCC® Medium 1227: LB Medium (ATCC medium 1065) with 50 mcg/ml ampicillin |
| Biosafety Level： | 1
Biosafety classification is based on U.S. Public Health Service Guidelines, it is the responsibility of the customer to ensure that their facilities comply with biosafety regulations for their own country. |
| Shipping Information： | Distributed: freeze-dried |
| 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. |
| References： | 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 |