Abstract:
:Haptoglobin types were determined on 211 patients with leukemia of the four most common types: acute lymphatic (ALL), chronic lymphatic (CLL), acute myeloid (AML), and chronic myeloid leukemia (CML). Frequency distributions of the three common Hp types in patients differed significantly from the control population. A significant increase in the relative incidence of Hp 1-1 was observed in patients with ALL, AML, and CML, but not with CLL. A similar trend was consistent in the data from previously published studies for the same three types of leukemia but not for CLL. Our results and the analysis of data from previous studies, suggest an association of Hp type with some leukemias, which is expressed in a consistent elevation of Hp 1-1 type among leukemia patients with ALL, AML, and CML.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Nevo S,Tatarsky Idoi
10.1007/BF00401236subject
Has Abstractpub_date
1986-07-01 00:00:00pages
240-4issue
3eissn
0340-6717issn
1432-1203journal_volume
73pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The centromeric regions of cattle, goat and sheep chromosomes bind anti-5-MeC as revealed by immunofluorescence technique, indicating concentration of 5-MeC at these heterochromatic regions. The centromere of the submetacentric X of cattle remains nearly unstained and so do the centromeres of the acrocentric X chromos...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270395
更新日期:1976-01-28 00:00:00
abstract::EagI and NotI linking libraries were prepared in the lambda vector, EMBL5, from the mouse-human somatic cell hybrid 1W1LA4.9, which contains human chromosomes 11 and Xp as the only human component. Individual clones containing human DNA were isolated by their ability to hybridise with total human DNA and digested with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02346183
更新日期:1996-06-01 00:00:00
abstract::The extent of linkage equilibrium was estimated among four recently characterized human fibrinogen restriction fragment length polymorphisms (RFLPs) using a randomly selected group of 110 individuals from California. Two coding region RFLPs, RsaI and MnlI (FGA codon 312 and FGB codon 448, respectively), and two RFLPs ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202863
更新日期:1994-08-01 00:00:00
abstract::Although a large number of human serum transferrin (TF) variants have been described, only one RFLP (AvaI) has so far been found. Here we report three new RFLPs (MvaI in intron 5 and exon 7, BbvI in exon 7) and correlations between RFLPs and between RFLPs and serum TF types. There were strong, but not always complete,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050667
更新日期:1998-02-01 00:00:00
abstract::The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218841
更新日期:1996-01-01 00:00:00
abstract::In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050634
更新日期:1997-12-01 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::After an association between genetic variants and a phenotype has been established, further study goals comprise the classification of patients according to disease risk or the estimation of disease probability. To accomplish this, different statistical methods are required, and specifically machine-learning approache...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-012-1194-y
更新日期:2012-10-01 00:00:00
abstract::1108 tribal and 1062 non-tribal individuals from three districts of Andhra Pradesh were examined for serum albumin variants. A slow-moving variant, identical to Albumin Kashmir was found in a single Muslim individual. Another new slow-moving variant, faster than Albumin Kashmir found in a single individual of a Koya D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287180
更新日期:1979-10-01 00:00:00
abstract::Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1287-y
更新日期:2005-07-01 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::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::We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206763
更新日期:1990-08-01 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::The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplot...
journal_title:Human genetics
pub_type: 历史文章,杂志文章
doi:10.1007/s00439-003-1072-8
更新日期:2004-03-01 00:00:00
abstract::Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050435
更新日期:1997-06-01 00:00:00
abstract::The sickle-cell gene contributes substantially to the presentation of anaemia in certain areas of the Arabian Peninsula. However, the clinical presentation of the homozygous state of Hb S is less severe than that observed in other ethnic groups, such as American negroes. In the present paper, biosynthesis studies perf...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278681
更新日期:1979-01-01 00:00:00
abstract::Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1526-1
更新日期:2015-03-01 00:00:00
abstract::Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278823
更新日期:1986-01-01 00:00:00
abstract::Two cases of trisomy 21q223 with the Down's phenotype were analysed by in situ hybridization with specific probes previously located in the sub-bands 21q221 (SOD-A) and 21q223 (BCEI and COL6A). These studies give evidence that the clinical picture of Down's syndrome is at least to a great extent correlated with trisom...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01790097
更新日期:1988-11-01 00:00:00
abstract::The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, exc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100504
更新日期:2001-06-01 00:00:00
abstract::In order to understand the role of the insulin receptor substrate-2 (IRS2) gene (chromosome region: 13q34) in obesity, a complex disorder associated with insulin resistance and glucose intolerance, we determined single nucleotide polymorphims (SNPs) and complex haplotypes in women with morbid obesity and a body mass i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0935-3
更新日期:2003-07-01 00:00:00
abstract::Three common alleles, epsilon2, epsilon3, and epsilon4, of the gene coding for apolipoprotein E (apoE) have been identified as predictors of interindividual variation in measures of lipid and lipoprotein metabolism, and ultimately risk of coronary heart disease (CHD), within many populations. Here we evaluated the uti...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050811
更新日期:1998-08-01 00:00:00
abstract::We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217122
更新日期:1992-05-01 00:00:00
abstract::Only two genome-wide association (GWA) screens have been published for melanoma (Nat Genet 47:920-925, 2009; Nat Genet 40:838-840, 2008). Using a unique approach, we performed a genome-wide association study in 156 related melanoma cases from 34 high-risk Utah pedigrees. Genome-wide association analysis was performed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1048-z
更新日期:2012-01-01 00:00:00
abstract::We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb inversion in chromosome 14...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1310-3
更新日期:2005-10-01 00:00:00
abstract::Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0758-7
更新日期:2002-07-01 00:00:00
abstract::Cytogenetic analysis of 26 non-Burkitt lymphomas having abnormal clones, revealed non-random involvement of certain chromosomes in numerical and structural changes. In some cases, chromosome structural abnormalities could be correlated with histopathology of the tumours. A combined analysis of cases in the present ser...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287055
更新日期:1980-01-01 00:00:00
abstract::Multiple linkage regions have been reported in schizophrenia, and some appear to harbor susceptibility genes that are differentially expressed in postmortem brain tissue derived from unrelated individuals. We combined traditional genome-wide linkage analysis in a multiplex family with lymphocytic genome-wide expressio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0172-7
更新日期:2006-06-01 00:00:00
abstract::In a pilot study, the possible influence of the inherited electroencephalogram (EEG) pattern on aspects of psychologic maturation was investigated. The twin sample consisted of 208 pairs, 110 monozygotic (MZ) and 98 dizygotic (DZ), mostly children and adolescents. The study showed a greater similarity between MZ compa...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295604
更新日期:1982-01-01 00:00:00