Abstract:
:A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located at Xq13. Tight linkage was excluded for DXS9 (probe RC8) and DXS41 (probe 99.6) on Xp and for blood clotting factor 9 (FIX) on distal Xq. Deafness is one of the predominant clinical features in males with deletions of the Xq21 band. Our results suggest that this association may be due to involvement of the DFN3 gene.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Brunner HG,van Bennekom A,Lambermon EM,Oei TL,Cremers WR,Wieringa B,Ropers HHdoi
10.1007/BF00273647subject
Has Abstractpub_date
1988-12-01 00:00:00pages
337-40issue
4eissn
0340-6717issn
1432-1203journal_volume
80pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization. Three clinical variants ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207379
更新日期:1995-08-01 00:00:00
abstract::Our recent genome-wide association study (GWAS) had discovered a new locus at 8p23 (rs2738048) associated with IgA nephropathy (IgAN) in Chinese Han patients, implicating the DEFA gene family within this locus as susceptibility genes. However, it is still unknown whether there are additional variations within these ge...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1464-y
更新日期:2014-10-01 00:00:00
abstract::The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00195808
更新日期:1990-04-01 00:00:00
abstract::A clone with 47 chromosomes was observed in the bone marrow of a patient with aplastic anemia and found to be trisomic for chromosome 6. The abnormal clone was not observed in the peripheral blood. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295626
更新日期:1976-12-29 00:00:00
abstract::Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0950-4
更新日期:2003-07-01 00:00:00
abstract::Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identificati...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050188
更新日期:1996-08-01 00:00:00
abstract::DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273844
更新日期:1987-01-01 00:00:00
abstract::A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273268
更新日期:1979-04-17 00:00:00
abstract::Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). As female somatic cells are mosaic for expression of mutant MECP2, we performed single cell cloning of T lymphocytes from four RTT patients with MECP2 mutations to isolat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0724-4
更新日期:2002-06-01 00:00:00
abstract::Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286905
更新日期:1979-04-27 00:00:00
abstract::The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are invo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00214195
更新日期:1995-07-01 00:00:00
abstract::Genetic variants in MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase/5,10-methenyltetrahydrofolate cyclohydrolase/ 10-formyltetrahydrofolate synthetase), an important folate metabolic enzyme, are associated with a number of common diseases, including neural tube defects (NTDs). This study investigates the promoter...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0616-3
更新日期:2009-04-01 00:00:00
abstract::Mutations in the coding region of the methyl-CpG-binding protein 2 ( MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, such mutations have recently been described in a few autistic patients. In this study, a large sample of individuals with a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0786-3
更新日期:2002-10-01 00:00:00
abstract::DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191796
更新日期:1995-10-01 00:00:00
abstract::We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218918
更新日期:1994-01-01 00:00:00
abstract::Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary disease characterized by hamartomatous polyposis involving the entire bowel. Recently STK11, a gene bearing a mutation responsible for PJS, was isolated. We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050801
更新日期:1998-08-01 00:00:00
abstract::Pre-eclampsia is the most common serious medical disorder of human pregnancy. The human endothelial cell nitric oxide synthase (eNOS) gene is a candidate for pre-eclampsia/eclampsia (PE/E) susceptibility. A linkage study was performed on Australian PE/E families using 25 microsatellite markers from chromosome 7, one o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900172
更新日期:1999-12-01 00:00:00
abstract::Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220543
更新日期:1992-05-01 00:00:00
abstract::Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283048
更新日期:1987-05-01 00:00:00
abstract::The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285390
更新日期:1983-01-01 00:00:00
abstract::Hereditary paraganglioma type 1 (PGL1) is characterized by slow-growing and vascularized tumors that often develop in the carotid body (CB) and is caused by mutations in the gene for succinate dehydrogenase D ( SDHD) of mitochondrial complex II. The mechanisms of tumorigenesis and the factors affecting penetrance and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0969-6
更新日期:2003-08-01 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::To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050511
更新日期:1997-09-01 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::Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00204173
更新日期:1991-06-01 00:00:00
abstract::In the Original article published, the figure number 5: Genomic distribution of ROH is incorrectly published. The correct figure is given below. ...
journal_title:Human genetics
pub_type: 已发布勘误
doi:10.1007/s00439-019-02053-1
更新日期:2019-10-01 00:00:00
abstract::Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retarda...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1326-z
更新日期:2013-11-01 00:00:00
abstract::An infant exposed to high levels of lead in utero was found to have increased numbers of cells with chromosome breaks in blood samples obtained at 6 weeks and 3 months of life. Later samples did not show significant abnormality. Physical and neurological examinations of the patient up to 18 months of age gave results ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273496
更新日期:1980-02-01 00:00:00
abstract::A study was conducted on the feasibility of isolating genes and pseudogenes that map to chromosome 13 by a hybridization-based approach using a 13-specific library and pools of repeat-free cDNA clones. Five pairs of cDNA and chromosome 13 genomic clones were identified and characterized. Partial or full-length sequenc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02267064
更新日期:1996-04-01 00:00:00
abstract::DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00451464
更新日期:1988-09-01 00:00:00