Abstract:
:The proteins of three anodal Gc1 variants, Gc1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc variants. The results indicate that both proteins, the anodal and the cathodal component of these Gc1 mutants, carry sialic acid residues. This observation is remarkable in so far as usually only the anodal component of the Gc1 protein contains NANA and only a single residue. From the experiments carried out it can be deduced that Gc1A16 has two NANA residues in the anodal and one NANA residue in the cathodal component. Gc1A16 was found in four members of three generations in a Danish family; the variant segregated as a Mendelian trait. More difficult to interpret are the results obtained with the variants Gc1A11 and Gc1A17. Gc1A11 probably has three NANA residues in the anodal and two NANA residues in the cathodal component. Gc1A11 has been observed in two mother-child pairs and is presumably also a simple genetic trait. Gc1A17 has also several NANA residues in both Gc proteins; it is suggested that the anodal component has either three or four NANA residues and the cathodal component either two or three NANA residues. Family information on this variant is not yet available.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Thymann M,Hoste B,Scheffrahn W,Constans J,Cleve Hdoi
10.1007/BF00293029subject
Has Abstractpub_date
1985-01-01 00:00:00pages
224-7issue
3eissn
0340-6717issn
1432-1203journal_volume
69pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Investigation of lymphocyte cultures from three females heterozygous for fra(X)(q27) shows widely differing proportions of early and late replicating X chromosomes having the fragile site, and suggests that the replication status of the fragile X may be related to the mental capacity of the patient. The study has util...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00333538
更新日期:1982-01-01 00:00:00
abstract::Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100599
更新日期:2001-10-01 00:00:00
abstract::Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their ana...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281892
更新日期:1976-07-27 00:00:00
abstract::Gene-gene and gene-environment interactions govern a substantial portion of the variation in complex traits and diseases. In convention, a set of either unrelated or family samples are used in detection of such interactions; even when both kinds of data are available, the unrelated and the family samples are analyzed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1361-9
更新日期:2014-02-01 00:00:00
abstract::Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100553
更新日期:2001-07-01 00:00:00
abstract::Heritability, the fraction of phenotypic variation explained by genetic variation, has been estimated for many phenotypes in a range of populations, organisms, and time points. The recent development of efficient genotyping and sequencing technology has led researchers to attempt to identify the genetic variants respo...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-012-1199-6
更新日期:2012-10-01 00:00:00
abstract::Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282541
更新日期:1986-11-01 00:00:00
abstract::Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, inves...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218844
更新日期:1996-01-01 00:00:00
abstract::The GLI3 gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiolo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050605
更新日期:1997-12-01 00:00:00
abstract::It has recently been suggested that short expansions of CAG repeat in the gene ATXN-2 causing SCA2 (spinocerebellar ataxia type 2) are associated with an increased risk of amyotrophic lateral sclerosis (ALS) in the populations of the USA and northern Europe. In this study, we investigated the role of ATXN-2 in Italian...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1000-2
更新日期:2011-10-01 00:00:00
abstract::Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF5...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050745
更新日期:1998-05-01 00:00:00
abstract::Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00289479
更新日期:1983-01-01 00:00:00
abstract::Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of D4Z4 repeat on 4q35. It displays a remarkable inter- and intra-familial clinical variability ranging from severe phenotype to asymptomatic carriers. Mosaicism for the contracted FSHD-sized allele is a recurrent finding,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0100-2
更新日期:2006-03-01 00:00:00
abstract::The arbitrarily primed-PCR (AP-PCR) genomic fingerprinting method was applied to evaluate its effectiveness in detecting and characterizing amplified DNA fragments in two small-cell lung carcinoma (SCLC) cell lines, NCI-H69 and NCI-H82. Of the 2428 DNA fragments detected by AP-PCR using 62 arbitrary primers, 2 (0.08%)...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050203
更新日期:1996-09-01 00:00:00
abstract::Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0700-3
更新日期:2009-10-01 00:00:00
abstract::Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050717
更新日期:1998-04-01 00:00:00
abstract::Inherited dilated cardiomyopathy (DCM) is a genetically and phenotypically very heterogeneous disease. DCM is caused by mutations in multiple genes encoding proteins that are involved in force generation, force transmission, energy production and several signalling pathways. Thus, the pathophysiology of heart failure ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0064-2
更新日期:2005-12-01 00:00:00
abstract::TransferrinC (TfC) subtypes were determined by isoelectric focusing (PAGIF) on samples from 90 carriers of the TFB and TfD alleles. In all cases of CB and CD heterozygotes only one of the two common subtypes of the TfC allele, TfC1 or TfC2, was observed. This is considered strong support for the hypothesis of two comm...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278905
更新日期:1979-01-19 00:00:00
abstract::Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00296148
更新日期:1976-02-29 00:00:00
abstract::Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050428
更新日期:1997-05-01 00:00:00
abstract::To elucidate further the genetic mechanisms for follicular thyroid tumor development and progression, we allelotyped follicular thyroid tumors and other thyroid lesions from 92 patients. In general, a low frequency of loss of heterozygosity (LOH) was found, the highest being for chromosomes 3q, 10q, 11p, 11q, 13q, and...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00214182
更新日期:1995-07-01 00:00:00
abstract::To develop a general method for analysis of the mutation and prenatal diagnosis of X-linked hyper-IgM syndrome (XHM), the human CD40 ligand (hCD40L) gene was cloned and sequenced with special reference to the 5' and 3' flanking regions and exon/intron boundaries. The hCD40L gene consists of five exons and four introns...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02265262
更新日期:1996-02-01 00:00:00
abstract::Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate autosomal recessive form and autosomal dominant forms of the disease. Most malignant osteopetroses have been ascribed to mutations in the OC116 gene encoding the human a3 subunit of vacuola...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0861-9
更新日期:2003-02-01 00:00:00
abstract::The erythrocytic and liver pyruvate kinases (PK) from a patient with congenital nonspherocytic hemolytic anemia have been studied. In red blood cells, the residual activity, 28% of the normal control, presented normal kinetic properties, instability to heat and urea, and slow electrophoretic mobility. The L-type PK fr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00296454
更新日期:1982-01-01 00:00:00
abstract::The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00225205
更新日期:1995-03-01 00:00:00
abstract::We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0486-8
更新日期:2008-05-01 00:00:00
abstract::DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mut...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197153
更新日期:1991-08-01 00:00:00
abstract::A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00329141
更新日期:1980-01-01 00:00:00
abstract::A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270563
更新日期:1984-01-01 00:00:00
abstract::A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00527407
更新日期:1977-09-22 00:00:00