Abstract:
:Rearrangement of the breakpoint cluster region (bcr) and the chromosomal location of c-abl and 3'-bcr were studied in two patients with Philadelphia chromosome (Ph1)-negative chronic myelocytic leukemia (CML). One patient (patient 1) had a normal karyotype and the other (patient 2), 46,XY,inv(3)(q21q26). Both patients showed the bcr rearrangement by Southern blot analysis with a 1.2kb 3'-bcr probe. In situ hybridization studies demonstrated the location of the homologous sequences of bcr on chromosome 22 in patient 1, and on chromosomes 9 and 22 in patient 2. These findings indicate that the morphologically normal-looking chromosomes 9 and 22 in patient 2 are the result of a retranslocation between chromosomes 9q+ and 22q-, abnormalities which were first formed by a standard Ph1 translocation.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Inazawa J,Nishigaki H,Takahira H,Nishimura J,Horiike S,Taniwaki M,Misawa S,Abe Tdoi
10.1007/BF00286701subject
Has Abstractpub_date
1989-09-01 00:00:00pages
115-8issue
2eissn
0340-6717issn
1432-1203journal_volume
83pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286609
更新日期:1984-01-01 00:00:00
abstract::A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270866
更新日期:1976-03-12 00:00:00
abstract::High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02039-z
更新日期:2019-10-01 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::Several studies have reported that a variant allele (S2) of the apolipoprotein (apo) A-I/C-III/A-IV complex is associated with hyperlipoproteinemia in some populations and that the frequency of this allele is two- to fivefold higher in patients with premature coronary heart disease (CHD) than in healthy controls. In t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00225084
更新日期:1995-01-01 00:00:00
abstract::The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702867
更新日期:1988-10-01 00:00:00
abstract::Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1269-0
更新日期:2005-05-01 00:00:00
abstract::A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281894
更新日期:1976-07-27 00:00:00
abstract::In certain segments of human DNA, the methylation of deoxycytidine residues has been found to be highly specific and interindividually conserved. Imprinted DNA sequences in diploid primary cells show allele-specific differences in DNA methylation, usually with the active chromosomal regions being unmethylated and the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202872
更新日期:1994-08-01 00:00:00
abstract::A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270570
更新日期:1984-01-01 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::The Gm types of 515 inhabitants of Belém and 395 inhabitants of Porto Alegre, Brazil were studied in an attempt to quantitatively estimate ethnic parental contributions. The people from Belém can be characterized as 24% black, 22% Indian, and 54% Caucasian. The Porto Alegre blacks seem to have inherited as much as 53%...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00289458
更新日期:1979-01-01 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::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::Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-012-1223-x
更新日期:2013-01-01 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::A method is introduced for simultaneously using multiple loci to estimate admixture and test goodness of fit of the model of admixture. Deviation of observed frequencies from expectation caused by sources of error such as sampling and/or drift is allowed for all loci in all populations. This allows investigation of th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291407
更新日期:1984-01-01 00:00:00
abstract::Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271160
更新日期:1981-01-01 00:00:00
abstract::The neurofibromatosis type 1 (NF1) gene located at 17q 11.2 contains 60 exons and spans 350 kb of genomic DNA. Mutation analysis has been hampered by the large size of the gene, the high rate of new mutations, a lack of mutational clustering and the presence of numerous homologous loci. Mutation detection methods base...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900135
更新日期:1999-10-01 00:00:00
abstract::The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0352-0
更新日期:2007-06-01 00:00:00
abstract::The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291241
更新日期:1988-01-01 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::To understand better the pathogenesis of ovarian dysgenesis in individuals with abnormalities such as 45,X Turner syndrome, trisomy 13, and trisomy 18, we have examined microscopically the ovaries of 36 infants with a number of chromosomal abnormalities confirmed by karyotype analysis. All infants with trisomy 13, tri...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201540
更新日期:1991-04-01 00:00:00
abstract::We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often ass...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1257-4
更新日期:2005-07-01 00:00:00
abstract::The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02281880
更新日期:1996-05-01 00:00:00
abstract::We have analysed the spread of X inactivation in an individual with an unbalanced 46,X,der(X)t(X;10)(q26.3;q23.3) karyotype. Despite being trisomic for the region 10q23.3-qter, both the proband and her aunt with the same karyotype presented only with secondary amenorrhoea and lacked any features normally associated wi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100578
更新日期:2001-09-01 00:00:00
abstract::Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220080
更新日期:1992-11-01 00:00:00
abstract::The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206958
更新日期:1994-12-01 00:00:00
abstract::Subjects in the National Academy of Sciences-National Research Council Twin Registry of 31,848 male twin veterans were followed for mortality from 1 January 1946, or from the date of entry into military service if that was later, to 31 December 1978. During this time 3,573 deaths occurred among them, 837 due to trauma...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278852
更新日期:1981-01-01 00:00:00
abstract::Recently it has been reported that recombination hotspots appear to be highly variable between humans and chimpanzees, and there is evidence for between-person variability in hotspots, and evolutionary transience. To understand the nature of variation in human recombination rates, it is important to describe patterns ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0391-6
更新日期:2007-11-01 00:00:00