Molecular Genetic Diagnosis of a Family with Hypercholesterolemia by a Mismatched PCR-RFLP Method for Genotyping Single Base Substitution of the LDL Receptor Gene.
スポンサーリンク
概要
- 論文の詳細を見る
Plasma lipid and lipoprotein levels reflect in part the influence of relevant genetic loci. Defects at some of these loci account for specific types of dyslipoproteinemia occurring with regularity among family members. In the course of familial investigations of coronary artery disease, we identified an family in which several members were affected with elevated low density lipoprotein (LDL) cholesterol levels. To study the genetic defects responsible for plasma lipoprotein abnormality in this pedigree, we developed a simple method for genotyping a single base substitution that does not affect a restriction recognition enzyme site in exon 10 of the LDL receptor gene. Using our mismatched PCR method, this G- >A substitution at nucleotide 1413 could be genotyped in the form of a biallelic restriction fragment length polymorphism (RFLP) after digestion with restriction enzyme Hpa II. Linkage analysis using this molecular method demonstrated that the defect at the LDL receptor locus is responsible for elevated LDL cholesterol phenotype observed in this family by segregation of defective alleles at the LDL receptor locus with the disease (peak decimal logarithm of odds score >3.0).
- International Heart Journal刊行会の論文
著者
-
HOPKINS Paul
Cardiovascular Genetics Research Clinic, University of Utah Heart Science Center
-
Emi Mitsuru
Department Of Biochemistry Cancer Institute
-
Wu Lily
Cardiovascular Genetics Research Clinic University Of Utah Heart Science Center
-
HIRAYAMA Tsunenori
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School
-
Yamaki Emi
Department Of Molecular Biology Institute Of Gerontology Nippon Medical School
-
Williams Roger
Cardiovascular Genetics Research Clinic University Of Utah Medical School
-
Hirayama Tsunenori
Department Of Molecular Biology Institute Of Gerontology Nippon Medical School
-
HOPKINS Paul
Cardiovascular Genetics Research Clinic, University of Utah Medical Center
-
Wu Lily
Cardiovascular Genetics Research Clinic, University of Utah Medical Center
-
WILLIAMS Roger
Cardiovascular Genetics Research Clinic, University of Utah Medical Center
関連論文
- Overrepresentation of the EBAG9 Gene at 8q23 Associated with Early-Stage Breast Cancers
- Down-regulation of members of glycolipid-enriched membrane raft gene family, MAL and BENE, in cervical squamous cell cancers
- Genetic Association of Low-Density Lipoprotein Receptor-Related Protein 2 (LRP2) with Plasma Lipid Levels
- Association of nucleotide variations in the apolipoprotein B48 receptor gene (APOB48R) with hypercholesterolemia
- Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene
- A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia
- Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene
- G-substrate gene promoter SNP (-1323T>C) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia : Intra-familial association study in an eight-generation hyperlipidemic kindred
- Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia : intrafamilial association study in an eight-generation hyperlipidemic kindred
- Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter : molecular study in a 1135-member familial hypercholesterolemia kindred
- Characterization of liver-cirrhosis nodules by analysis of gene-expression profiles and patterns of allelic loss
- Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity
- Three Distinct Commonly Deleted Regions of Chromosome Arm 16q in Human Primary and Metastatic Prostate Cancers
- Localization of a Tumor Suppressor Gene Associated With Progression of Human Prostate Cancer Within a 1.2 Mb Region of 8p22-p21.3
- A 3-Mb Physical Map of the Chromosome Region 8p21.3-p22,Including a 600-kb Region Commonly Deleted in Human Hepatocellular Carcinoma, Colorectal Cancer, and Non-Small Cell Lung Cancer
- Clinical variant of Tangier disease in Japan : mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis
- Allelic Losses of Loci at 3p25.1,8p22,13q12,17p13.3,and 22q13 Correlate with Postoperative Recurrence in Breast Cancer
- Segmental Copy Number Loss of SFMBT1 Gene in Elderly Individuals with Ventriculomegaly: A Community-Based Study
- Genetic mapping of allelic loss on chromosome 6q within heterogeneous prostate carcinoma
- Identification of a 1-Mb Common Region at 16q24.1-24.2 Deleted in Hepatocellular Carcinoma
- Allelic Loss at 1p34,13q12,17p13.3,and 17q21.1 Correlates With Poor Postoperative Prognosis in Breast Cancer
- Identification of a 1-cM Region of Common Deletion on 4q35 Associated With Progression of Hepatocellular Carcinoma
- Correlation of Allelic Loss with Poor Postoperative Survival in Breast Cancer
- PTEN/MMAC1 Mutations in Hepatocellular Carcinomas: Somatic Inactivation of Both Alleles in Tumors
- Frequent Allelic Loss at 6q26-27 in Breast Carcinomas of the Solid-tubular Histologic Type
- Detailed Deletion Mapping of Chromosome Arm 3p in Breast Cancers : A 2-cM Region on 3p 14.3-21.1 and a 5-cM Region on 3p 24.3-25.1 Commonly Deleted in Tumors
- Correlation of Allelic Losses and Clinicopathological Factors in Primary Breast Cancers
- Mapping of a Breast Cancer Tumor Suppressor Gene Locus to a 4-cM Interval on Chromosome 18q21
- Expression profiling to predict postoperative prognosis for estrogen receptor-negative breast cancers by analysis of 25,344 genes on a cDNA microarray
- Up-regulation of transcriptional factor E2F1 in papillary and anaplastic thyroid cancers
- Amplification, up-regulation and over-expression of C3G (CRK SH3 domain-binding guanine nucleotide-releasing factor) in non-small cell lung cancers
- Upregulation and Overexpression of Human X-box Binding Protein 1 (hXBP-1) Gene in Primary Breast Cancers
- Amplification, up-regulation and over-expression of DVL-1, the human counterpart of the Drosophila disheveled gene, in primary breast cancers
- Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan
- Allelic Loss on Chromosome 9q Is Associated with Lymph Node Metastasis of Primary Breast Cancer
- Nucleotide variations in genes encoding plasminogen activator inhibitor-2 and serine proteinase inhibitor B10 associated with prostate cancer
- Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case-control series
- Genomic Structure and Mapping of Human Orphan Receptor LXR Alpha : Upregulation of LXRa mRNA During Monocyte to Macrophage Differentiation
- Genetic Association between Aldehyde Dehydrogenase 2 (ALDH2) Variation and High-Density Lipoprotein Cholesterol (HDL-C) Among Non-Drinkers in Two Large Population Samples in Japan
- Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations
- Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients
- Correlation of Allelic Losses and Clinicopathological Factors in 504 Primary Breast Cancers
- Association of Allelic Losses at 3p25.1, 13q12, or 17p13.3 with Poor Prognosis in Breast Cancers with Lymph Node Metastasis
- Allelic Loss at 1p34-36 Predicts Poor Prognosis in Node-negative Breast Cancer
- DNA alterations during multi-step development of human hepatocellular carcinomas revealed by laser capture microdissection
- Genomic structure of the gene encoding human 3-hydroxy-3-methyl-glutaryl coenzyme A reductase : comparison of exon/intron organization of sterol-sensing domains among four related genes
- Genomic structure and chromosomal mapping of the human sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) gene
- Differentially Regulated Genes as Putative Targets of Amplifications at 20q in Ovarian Cancers
- Definition of a 1-Mb homozygous deletion at 9q32-q33 in a human bladder-cancer cell line
- Two Target Regions of Allelic Loss on Chromosome 9 in Urinary-bladder Cancer
- Mapping of a New Target Region of Allelic Loss to a 6-cM Interval at 21q21 in Primary Breast Cancers
- Hypermethylation associated with inactivation of the SOCS-1 gene, a JAK/STAT inhibitor, in human hepatoblastomas
- Molecular cloning, tissue expression, and chromosomal assignment of a novel gene encoding a subunit of the human signal-recognition particle
- Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women
- Association of a single-nucleotide polymorphism in the promoter region of leukemia inhibitory factor receptor gene with low bone mineral density in adult women
- Linkage disequilibrium and haplotype analysis among four novel single-nucleotide polymorphisms in the human leukemia inhibitory factor (LIF) gene
- Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density
- Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women
- Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women
- Association of the -381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss
- Thirteen single-nucleotide polymorphisms in the human osteopontin gene identified by sequencing of the entire gene in Japanese individuals
- Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene
- Genomic structure and chromosomal mapping of the human Site-1 protease (S1P) gene
- Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the SREBP cleavage-activating protein (SCAP) locus
- Two Distinct Commonly Deleted Regions on Chromosome 13q Suggest Involvement of BRCA2 and Retinoblastoma Genes in Sporadic Breast Carcinomas
- PRLTS Gene Alterations in Human Prostate Cancer
- A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density
- Association of bone mineral density with a dinucleotide repeat polymorphism at the calcitonin (CT) locus
- Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis
- Association of bone mineral density with polymorphism of the human matrix Gla protein locus in elderly women
- The important role for βVLDLs binding at the fourth cysteine of first ligand-binding domain in the low-density lipoprotein receptor
- Down-regulation in Multiple Human Cancers of a Novel Gene, DMHC, from 17q25.1 That Encodes an Integral Membrane Protein
- Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers
- Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma
- Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japa
- Apolipoprotein H Variant Modifies Plasma Triglyceride Phenotype in Familial Hypercholesterolemia : A Molecular Study in an Eight-generation Hyperlipidemic Family
- Three Aberrant Splicing Variants of the HMGIC Gene Transcribed in Uterine Leiomyomas
- Frequent Allelic Loss at 7p14-15 Associated with Aggressive Histologic Types of Breast Cancer
- Mapping of a New Target Region of Allelic Loss to a 2-cM Interval at 22q 13.1 in Primary Breast Cancer
- Novel single nucleotide polymorphisms of the human nuclear factor kappa-B 2 gene identified by sequencing the entire gene
- Novel single nucleotide polymorphisms of the human colony-stimulating factor 2 (CSF2) gene identified by sequencing the entire gene
- Five novel single-nucleotide polymorphisms of human interferon gamma identified by sequencing the entire gene
- Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene
- Association of estrogen receptor β (ESR2) gene polymorphism with blood pressure
- Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the human nuclear factor kappa-beta subunit 1 (NFKB1) locus
- Fusion of a Novel Gene, ELKS, to RET Due to Translocation t(10;12)(q11;p13) in a Papillary Thyroid Carcinoma
- Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities
- A novel LDLR mutation, H190Y, in a Utah kindred with familial Hypercholesterolemia
- Head-to-head juxtaposition of Fas-associated phosphatase-1 (FAP-1) and c-Jun NH2-terminal kinase 3 (JNK3) genes : genomic structure and seven polymorphisms of the FAP-1 gene
- Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene
- Allelic Loss on Chromosome 1p Is Associated with Progression and Lymph Node Metastasis of Primary Breast Carcinoma
- Overestimated frequency of a possible emphysema-susceptibility allele when microsomal epoxide hydrolase is genotyped by the conventional polymerase chain reaction-based method
- Association of diffuse panbronchiolitis with microsatellite polymorphism of the human interleukin 8 (IL-8) gene
- The c-Jun NH_2-terminal kinase3 (JNK3) gene : genomic structure, chromosomal assignment, and loss of expression in brain tumors
- Nine novel single-nucleotide polymorphisms in the integrin β4 (ITGB4) gene in the Japanese population
- Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene
- Human calcitonin receptor-like receptor for adrenomedullin : genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis
- Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability
- Familial Hypercholesterolemia Kindred in Utah with Novel C54S Mutations of the LDL Receptor Gene.
- Molecular Genetic Diagnosis of a Family with Hypercholesterolemia by a Mismatched PCR-RFLP Method for Genotyping Single Base Substitution of the LDL Receptor Gene.