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The whole cosmid has been used as the probe.

DESCRIPTION OF VECTOR COMPONENT:
Name of vector: unknown
Intact vector size:
Type of vector: cosmid
Cloning sites:
Polylinker sites:
Host range: Escherichia coli
Features (with orientation and position when available):
marker(s): ampR
Cross references:

DNA: genomic

DESCRIPTION OF INSERT COMPONENT:
Genome: Homo sapiens
Gene symbol: LDLR
Genomic copy number: unique
Gene name: low density lipoprotein receptor (familial
hypercholesterolemia)
Contains complete coding sequence?: U
Chromosome: 19; Localization: 19 p13.2
Type of DNA: genomic
Insert end:
Insert end:
Insert size (kb): 40.0
Cross references:

Insert lengths(kb): 40.0

Gene product: low density lipoprotein receptor (familial hypercholesterolemia)(low density lipoprotein receptor) [LDLR]

Alleles: A2, E1, E2, A1, A2, B1, B2, D1, D2, K1, K2, Q1, Q2, S2, A1, S1

Restriction digests of the clone give the following sizes (kb): BamHI--20.0, 9.0, 8.4, 3.8, 3.1, 2.0, 1.1, 0.98; BglII--15.0 (doublet), 6.0, 5.2, 4.4, 1.6, 1.3; EcoRI--15.0, 12.0, 9.4, 8.8, 2.3, 1.4; HindIII--19.0, 15.0, 8.2, 3.4, 2.5;

BstEII--11.0, 9.4, 8.4 (doublet), 5.4, 4.5, 2.3.

The whole cosmid has been used as the probe.

IMPORTANT: To prevent amplification of a rearranged and/or deleted cosmid, we recommend streaking on LB + amp plates at 30C and picking small colonies for liquid culture.

Enzymes not detecting polymorphism: BglI, BstEII, BxtXI, DraI, EcoRV, HincII, XmnI, MspI, TaqI, BamHI, BglII, PstI, EcoRI, HindIII.

Polymorphisms were also not detected with SacI or KpnI in those individuals demonstrating polymorphism with SacI/KpnI-digested DNA.