The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene

Wallis, S.; Donald, Jennifer A.; Forrest, Louise; Williamson, Robert; Humphries, Steve E.

doi:10.1007/bf00292585

Cited by 49 publications

(19 citation statements)

References 20 publications

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“…28,33 Discussion. We previously demonstrated a statistically significant association between the APOE €4 allele and late-onset FAD13 and have now extended this association to sporadic AD.…”

Section: Methodsmentioning

confidence: 99%

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

Saunders¹,

Strittmatter²,

Schmechel³

et al. 1993

Neurology

3,462

1,510

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Section: Methodsmentioning

confidence: 99%

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

Saunders¹,

Strittmatter²,

Schmechel³

et al. 1993

Neurology

3,462

1,510

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“…DNA from the hybrid clones was digested with the appropriate restriction enzyme, and 10 ,ug of each was electrophoresed in a 1.2% agarose gel in 40 mM Tris acetate/1 mM EDTA, pH 7.4, and transferred by blotting to nitrocellulose (35,39). Hybridization with labeled probe (5-10 x 106 cpm/tnml) in 45% (vol/vol) formamide/4.6x SSC/0.1% polyvinylpyrrolidone/0.1% Ficoll/0.1% bovine serum albumin/ 20 mM NaH2PO4, pH 6.5/ denatured salmon sperm DNA (500 ,g/ml)/10% dextran sulfate was for [12][13][14][15][16] hr at 42°C with shaking. The filters were then washed (20 min per wash with 0.1% NaDodSO4) as follows: apoE probe, twice in 2 x SSC and twice in 0.5 x SSC at 55°C; apoCII, twice in 2x SSC and twice in 0.5x SSC at 65°C; apoCI and C3, twice in 2x SSC Detter et al (40).…”

Section: Methodsmentioning

confidence: 99%

“…Among these are genes for myotonic dystrophy (DM) and a form of neurofibromatosis (NFI) and several genes controlling lipoprotein structure and metabolism (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12). Considering its small size, chromosome 19 has been assigned a large number of other genes, including complement component 3 (C3), peptidase D (PEPD), glucose phosphate isomerase (GPI), secretor (SE), the Lutheran blood group (LU), and a cluster of genes related to chorionic gonadotropin p subunit (CGB) (1,13).…”

mentioning

confidence: 99%

Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI.

Lusis¹,

Heinzmann²,

Sparkes³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

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We report the regional mapping of human chromosome 19 genes for three apolipoproteins and a lipoprotein receptor as well as genes for three other markers. The regional mapping was made possible by the use of a reciprocal whole-arm translocation between the long arm of chromosome 19 and the short arm of chromosome 1. Examination of three separate somatic cell hybrids containing the long arm but not the short arm of chromosome 19 indicated that the genes for apolipoproteins CI, CII, and E (APOCI, APOC2, and APOE, respectively) and glucose-6-phosphate isomerase (GPI) reside on the long arm, whereas genes for the low density lipoprotein receptor (LDLR), complement component 3 (C3), and peptidase D (PEPD) reside on the short arm. When taken together with previous studies, our results suggest the following physical gene map: pter-LDLR-C3-pl3.2-PEPD-centromere-(APOE, APOCI, APOC2, GPI)-qter. In addition, we have isolated a single A phage carrying both APOCI and part ofAPOE. These genes are tandemly oriented and are separated by about 6 kilobases of genomic DNA. Since previous family studies indicate tight linkage of APOE and APOC2, the apolipoprotein genes APOCI, APOC2, and APOE form a tight complex on the long arm of chromosome 19, suggesting the possibility of coordinate regulation.

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“…Finally, in association with APOC2, there are both Taq I and Bgi I polymorphisms with minor allele frequencies of 40-45% (25,40). There is no obvious association with dyslipoproteinemia; however, linkage disequilibrium exists between both of these RFLPs and between the Taq I RFLP and the e2 APOE allele.…”

Section: Discussionmentioning

confidence: 99%

Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism.

Huang¹,

Miller²,

Bruns³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

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ApoB is a large glycoprotein with an apparent molecular mass of 550 kDa on NaDodSO4/PAGE. It is a major constituent of most lipoproteins and plays an important role in their metabolism. Recently, apoB cDNA clones have been isolated from an expression library made with mRNA from a human hepatoma cell line. These clones, which were all 1.5-1.6 kilobases (kb) long and corresponded to the 3' end of apoB mRNA, were used to demonstrate that hepatic apoB mRNA is :22 kb long. In the current report, a probe derived from one of these cDNA clones, pB8, was used for in situ hybridization experiments to map the human gene for apoB, APOB, to the distal half of the short arm of chromosome 2. This probe was also used to analyze somatic cell hybrids and, in agreement with the in situ hybridization studies, concordancy was demonstrated with chromosome 2. In addition, two hybrids with chromosome 2 translocations that contain only the short arm reacted with the pB8 probe. A third hybrid with a complex rearrangement of chromosome 2, which deleted an interstitial region and the tip of the short arm of chromosome 2, did not react. These data indicate that APOB maps to either 2p2l-p23 or 2p24-pter. In further studies, DNA from normal individuals, digested with the restriction endonuclease EcoRI and subjected to Southern blot analysis with the pB8 probe, revealed a two-allele restriction fragment length polymorphism (RFLP). The major allele was 11 kb, and the minor allele was 13 kb. The minor allele was present with a frequency of 20-25%. The inheritance of the two alleles was studied in an informative family, and they segregated in a typical autosomal Mendelian fashion. The mapping studies provide the means for understanding the relationship of the APOB locus to others in the human genome, whereas the demonstration of an APOB RFLP increases our ability to assess the role of this locus in determining plasma lipoprotein levels.

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The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene

Cited by 49 publications

References 20 publications

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI.

Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism.

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