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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

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:

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

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.