Abstract:
:This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150 unrelated Greek familial hypercholesterolaemia (FH) heterozygous children by the analysis of six LDLR gene mutations. The linkage disequilibrium of two polymorphic microsatellites (D19S394 and D19S221) flanking the LDLR gene on chromosome 19 to the four most common mutations strongly suggests that each mutation is identical-by-descent in the probands included in this study (this is also supported by the geographical distribution of FH families with these mutations throughout Greece) and permits an estimation of the number of generations from a common ancestor for each mutation. The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M). A rapid diagnostic assay positive for the mutation has been developed for the most common mutation, G528D. The application of simple DNA diagnostic assays for LDLR mutation analysis are appropriate for the early identification of FH heterozygotes in Greece and are useful for the primary prevention of coronary artery disease.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Traeger-Synodinos J,Mavroidis N,Kanavakis E,Drogari E,Humphries SE,Day IN,Kattamis C,Matsaniotis Ndoi
10.1007/s004390050703subject
Has Abstractpub_date
1998-03-01 00:00:00pages
343-7issue
3eissn
0340-6717issn
1432-1203journal_volume
102pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0890-4
更新日期:2003-04-01 00:00:00
abstract::Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1935-7
更新日期:2019-09-01 00:00:00
abstract::Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286853
更新日期:1976-08-30 00:00:00
abstract::Mucopolysaccharidosis IVA (MPS IVA) is caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase encoded by the GALNS gene on chromosome 16. We describe, in detail, the clinical phenotype of five patients from three unrelated Finnish families and have characterized the disease-causing ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0959-8
更新日期:2003-07-01 00:00:00
abstract::Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...
journal_title:Human genetics
pub_type: 已发布勘误
doi:10.1007/s00439-019-02030-8
更新日期:2019-07-01 00:00:00
abstract::Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in hi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00390236
更新日期:1979-01-01 00:00:00
abstract::Herlitz disease (H-JEB), the lethal form of junctional epidermolysis bullosa, is a rare genodermatosis presenting from birth with widespread erosions and blistering of skin and mucosae because of tissue cleavage within the epidermal basement membrane. Mutations in any of the three genes encoding the alpha3, beta3 and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1210-y
更新日期:2005-01-01 00:00:00
abstract::A cDNA for the human catalytic subunit (C beta) of cAMP-dependent protein kinase (PKA) has been cloned from a testis cDNA library. In the present study, we have determined the chromosomal localization of this gene using a cDNA for C beta as a probe. Southern blot analysis of genomic DNA from human/mouse cell hybrids r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02265292
更新日期:1992-03-01 00:00:00
abstract::Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02236-1
更新日期:2020-11-19 00:00:00
abstract::A meta-analysis assessed whether the Ala45Thr polymorphism of the neurogenic differentiation 1 (NEUROD1) gene is associated with increased risk of diabetes mellitus type 1 (T1D) or type 2 (T2D). Fourteen case-control studies were analyzed, including genotype data on 3,057 patients with diabetes (T1D n=1,213, T2D n=1,8...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-004-1224-5
更新日期:2005-02-01 00:00:00
abstract::Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191806
更新日期:1995-10-01 00:00:00
abstract::The possibility of using TaqI restriction fragment length polymorphism (RFLP) analysis of the HLA-B locus and the HLA-DR-DQ subregions, flanking the 21-hydroxylase genes, for predicting disease in siblings of children with 21-hydroxylase deficiency was analyzed in 12 nuclear families with at least one affected child a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194218
更新日期:1990-10-01 00:00:00
abstract::Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. ...
journal_title:Human genetics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00439-015-1535-8
更新日期:2015-06-01 00:00:00
abstract::Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286960
更新日期:1978-12-18 00:00:00
abstract::A series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of five somatic cell hybrids. Restri...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00200562
更新日期:1990-02-01 00:00:00
abstract::A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271579
更新日期:1979-11-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00214191
更新日期:1995-07-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1395-z
更新日期:2014-05-01 00:00:00
abstract::The CDY family of genes is of special interest because some of them are included in chromosome-Y microdeletions detected among infertile men and are apparently involved in the spermiogenetic process. In this study, we employed the reverse transcriptase/polymerase chain reaction technique to test the RNA expression of ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0990-9
更新日期:2003-11-01 00:00:00
abstract::Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1638-x
更新日期:2016-04-01 00:00:00
abstract::A cloned cDNA probe encoding human factor IX was used for detecting homologous sequences in rodent human X chromosome hybrids and in human metaphase chromosome preparations. The results of these studies indicate that human factor IX is localized to the Xq27 leads to Xqter region. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286666
更新日期:1983-01-01 00:00:00
abstract::A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284440
更新日期:1976-09-10 00:00:00
abstract::Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210292
更新日期:1995-12-01 00:00:00
abstract::Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0080-2
更新日期:2006-01-01 00:00:00
abstract::We ascertained three consanguineous Pakistani families (PKDF291, PKDF335 and PKDF793) segregating nonsyndromic recessive hearing loss. The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe, whereas it is profound in PKDF291. The maximum two-point LOD scores are 3.01 (D19S1034), 3.85 (D19S894) and 3...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0418-z
更新日期:2007-12-01 00:00:00
abstract::The aim of this study was to estimate the risk of viable unbalanced offspring for a parental carrier of reciprocal translocation. On a large computerized database of reciprocal translocations we used logistic regression to model this risk. The status of the progeny is the outcome variable. Explanatory covariates are c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00420946
更新日期:1993-12-01 00:00:00
abstract::During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-006-0280-4
更新日期:2007-03-01 00:00:00
abstract::A well defined polymorphism of vitamin D-binding/group-specific component (GC) residues in exon 11. To characterize the molecular basis of GC*1A2 and GC*1A3, common in some Asian populations, we analyzed all coding exons amplified by the polymerase chain reaction. GC*1F was divided into GC*1FC and GC*1FT by a C-T tran...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00223861
更新日期:1995-05-01 00:00:00
abstract::Rapid progress in the sequencing of the genome of man and other species allows for the comparative analysis of their genetic structure and content. We have used a combined biochemical and computer-based approach to characterize a 146 kb human genomic bacterial artificial chromosome clone from chromosome 5q13 and disco...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-001-0610-5
更新日期:2001-11-01 00:00:00
abstract::An 8-month-old female child with the 9p- karyotype: 46,XX,del(9) (p22) is presented, being the first case from among Oriental people. She has many clinical features similar to those described in Caucasian cases. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295813
更新日期:1977-08-31 00:00:00