Human LDl receptor gene: two Apali RFLPs

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Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.

We have studied four different restriction fragment length polymorphisms (RFLPs) for the LDL receptor gene, detected using the restriction enzymes StuI, PvuII, ApaLI, and NcoI, in normal subjects and in patients with familial hypercholesterolaemia (FH) from London. Significant linkage disequilibrium was detected between all four RFLPs. Used together they give a polymorphism information content ...

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SOURCE AND DESCRIPTION : The probe that contains exon 1 to 8 was generated from pLDLR3. pLDLR3 contains a full-length LDL receptor cDNA (Yamamoto et at. , 1984) POLYMORPHISM : TaqI identifies a bi-allelic polymorphism with a band of 1.7kb and 0.6kb. FREQUENCY : Studies in 55 unrelated normal Japanese. 1.7Vb fragment 0.69 0.6kb fragment 0.31 NOT POLYMORPHISMS : In 50 individuals no polymorphisms...

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Two RFLPs in human inter-alpha-trypsin inhibitor heavy chain gene ITIH2 on chromosome 10.

SOURCE AND DESCRIPTION OF CLONE : The 0.8 kb Eco RI / Bam HI fragment of lambda HuHITI-9 (1) used as a probe codes for human heavy chain H2 of the inter-alpha-trypsin inhibitor (2). POLYMORPHISMS : Kpn 1 (GGTAC/C) identifies one invariant band at 8.5 kb and a diaJlelic polymorphism with DNA fragments at 26.0 kb or 20.0 kb. Msp I (C/CGG) identifies three invariant bands at 2.35 kb, 2.1 kb and 1....

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Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy.

We have used four restriction fragment length polymorphisms (RFLPs) of the human low density lipoprotein receptor (LDL-R) gene, detected by the restriction enzymes Ava II, Pvu II, and ApaLI (5' and 3'), to study the effect of variation at this gene locus in determining plasma cholesterol and LDL cholesterol levels. Two hundred eighty-nine normolipidemic individuals were studied from the Liguria...

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Two RFLPs at the TNP1 locus.

Source/Description: The Human Transition Protein 1 gene (TNP1) probe (1) used was a 700 bp genomic DNA sequence cloned into the Smal site of pUC8 and was supplied by W.Engel. Polymorphisms: TNP1 identifies a two allele polymorphism with TaqI: Al = 9.6 kb; A2 = 8.4 kb. Frequency: Analysis of 20 unrelated individuals yielded frequencies: Al = 0.23; A2 = 0.77. Rsal in a screen of 10-20 unrelated i...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 1987

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/15.6.2782