Abstract:
:The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Patracchini P,Calzolari E,Aiello V,Palazzi P,Banin P,Marchetti G,Bernardi Fdoi
10.1007/BF00285168subject
Has Abstractpub_date
1989-10-01 00:00:00pages
264-6issue
3eissn
0340-6717issn
1432-1203journal_volume
83pub_type
杂志文章相关文献
HUMAN GENETICS文献大全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::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 compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273003
更新日期:1984-01-01 00:00:00
abstract::Genetic studies in Turkish, Native American, European American, and African American (AA) families have linked chromosome 18q21.1-23 to susceptibility for diabetes-associated nephropathy. In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genot...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0732-8
更新日期:2009-12-01 00:00:00
abstract::A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217782
更新日期:1993-06-01 00:00:00
abstract::Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00388462
更新日期:1985-01-01 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::We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phylogeny incorporating South Asian (in total 305 individuals) and worldwide (in total 1286 individuals) data fro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1800-0
更新日期:2017-05-01 00:00:00
abstract::In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were comp...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205164
更新日期:1990-11-01 00:00:00
abstract::The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291709
更新日期:1988-05-01 00:00:00
abstract::In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were performed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281077
更新日期:1987-03-01 00:00:00
abstract::While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsy...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1901-4
更新日期:2018-07-01 00:00:00
abstract::The frequencies of base-line and Mitomycin-C (MMC) induced sister chromatid exchanges (SCE) were surveyed in four inbred strains of mice. In contrast to the C57Bl/6J, CBA/J, and A/J strains where frequencies of SCE increased linearly with increasing dose of MMC, levels of SCE were significantly lower in AKR/J mice at ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278870
更新日期:1978-02-23 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::Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284432
更新日期:1976-09-10 00:00:00
abstract::Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295530
更新日期:1985-01-01 00:00:00
abstract::The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291776
更新日期:1980-01-01 00:00:00
abstract::Ectodermal dysplasia syndromes are genetically heterogeneous group of disorders involving one or more of the classical ectodermal appendages (hair, nail, teeth, sweat glands) in association with anomalies of other organs or systems. In the present study a novel form of ectodermal dysplasia syndrome, ectodermal dysplas...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0640-y
更新日期:2009-05-01 00:00:00
abstract::We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050306
更新日期:1997-01-01 00:00:00
abstract::We have examined unfertilised oocytes and their first polar bodies (PBs) to determine the way in which the frequency of whole chromosome imbalance compares with that involving single chromatids and whether the precocious separation of chromatids prior to anaphase I affects all pairs of chromosomes. We have applied the...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000310
更新日期:2000-06-01 00:00:00
abstract::We have isolated an X chromosome probe, St35.691 (DXS305), which detects two RFLPs with TaqI and PstI, whose combined heterozygosity is about 60%. This probe has been assigned to Xq28 by physical and genetic mapping and is very closely linked to DXS52, DXS15, and the coagulation factor VIII gene (F8C). The best estima...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00288280
更新日期:1989-04-01 00:00:00
abstract::A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequence, CTCAG, was deleted ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050826
更新日期:1998-09-01 00:00:00
abstract::Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291429
更新日期:1987-12-01 00:00:00
abstract::The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become m...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00273442
更新日期:1985-01-01 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::Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-019-01972-3
更新日期:2019-02-01 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::N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210758
更新日期:1992-09-01 00:00:00
abstract::Three prostate cancer susceptibility genes have been reported to be linked to different regions on chromosome 1: HPC1 at 1q24-25, PCAP at 1q42-43, and CAPB at 1p36. Replication studies analyzing each of these regions have yielded inconsistent results. To evaluate linkage across this chromosome systematically, we perfo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100488
更新日期:2001-04-01 00:00:00
abstract::A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated fro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050198
更新日期:1996-08-01 00:00:00