Abstract:
:Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) amplification has been used to find new region-specific DNA probes for the heterochromatic region of chromosome 21. Six overlapping YAC clones from a pericentromeric contig map (region 21cen-21q11) were analyzed. Four YAC clones were characterized as hybridizing to several chromosomal locations. They are, therefore, either chimeric or shared by different chromosomes. Two of them containing alphoid satellite DNA, are localized at the centromeric regions of chromosomes 13 and 21 (clone 243A11), and on 13cen, 21cen and 1q3 (clone 781G5); the two others are localized at both 21q11 and 13q2 (clone 759D3), and at 18p (clone 770B3). Two YACs were strongly specific for chromosome 21q11 only (clones 124A7 and 881D2). These YACs were used effectively as probes for identifications of chromosome 21 during metaphase and interphase analysis of 12 individuals, including three families with Down syndrome offspring, and 6 aminocyte samples. The location of YAC clones on 21q11 close to the centromeric region allows the application of these clones as molecular probes for the analysis of marker chromosomes with partial deletions of the long arm as well as for pre- and postnatal diagnosis of trisomy 21 when alphoid or more distal region-specific DNA probes are uninformative. Overlapping YAC clones covering human chromosome 21q may be systematically used to detect a set of band-specific DNA probes for molecular-cytogenetic application.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Yurov YB,Laurent AM,Marcais B,Vorsanova SG,Roizes Gdoi
10.1007/BF00225195subject
Has Abstractpub_date
1995-03-01 00:00:00pages
287-92issue
3eissn
0340-6717issn
1432-1203journal_volume
95pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::DNA patterns from a pseudoautosomal variable number tandem repeat-like minisatellite (locus DXYS20) were compared in two samples: a Caucasian and a Black sample. We defined 3 types of DNA patterns named A, B and C, and found that these patterns have different frequencies in the Caucasian and Black groups. A set of all...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00219347
更新日期:1992-03-01 00:00:00
abstract::The effect of treatment with 8-methoxypsoralen (8-MOP) plus near-UV radiation (UVA) or with X-rays on the rate of DNA semi-conservative synthesis of fibroblasts from 10 Fanconi anemia (FA), two heterozygous, and three normal cell lines was studied. Following treatments with either X-rays or low doses of 8-MOP plus UVA...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273448
更新日期:1985-01-01 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::We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02281870
更新日期:1996-05-01 00:00:00
abstract::To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 yea...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-014-1500-y
更新日期:2015-02-01 00:00:00
abstract::Fanconi anemia (FA) cells show an increased sensitivity to 8-methoxypsoralen (8-MOP) plus UVa treatment; after an initial reduction of their semiconservative DNA synthesis rate, they do not recover like normal cells. We microinjected extracts from normal cells into FA fibroblasts from complementation group A and deter...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284106
更新日期:1987-04-01 00:00:00
abstract::A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brim...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273310
更新日期:1979-02-15 00:00:00
abstract::Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050348
更新日期:1997-02-01 00:00:00
abstract::We have isolated cDNA clones from a human NK cell cDNA library that encode the serine protease granzyme B. Although the sequence of the entire coding region for the mature protein and the 3' untranslated region of the clone are identical to other cDNA isolates of this gene obtained from human T cell cDNA libraries, th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00195821
更新日期:1990-04-01 00:00:00
abstract::rRNA gene activity was evaluated by cytologic methods in cultured human cells from two different tissues grown under controlled experimental conditions. The modal and average numbers of silver positive nucleolus organizers (NOs) per cell as well as the distribution of cells with different numbers of silver positive NO...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293027
更新日期:1985-01-01 00:00:00
abstract::X-chromosome inactivation and the size of the CGG repeat number are assumed to play a role in the clinical, physical, and behavioral phenotype of female carriers of a mutated FMR1 allele. In view of the tight relationship between replication timing and the expression of a given DNA sequence, we have examined the repli...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900081
更新日期:1999-07-01 00:00:00
abstract::A "new" low incidence red cell antigen, NFLD, is described. It was found in a Caucasian family and is inherited as an autosomal dominant. The antigen is not part of the AB0, MNSs, Duffy, Kidd, or Yt blood group systems and probably does not belong to the Rh or Kell blood group systems. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291354
更新日期:1984-01-01 00:00:00
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::A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00200902
更新日期:1991-07-01 00:00:00
abstract::We have determined the subchromosomal location of the human insulin gene by analyzing DNA isolated from sorted human metaphase chromosomes. Metaphase chromosome suspensions were sorted into fractions according to relative Hoechst fluorescence intensity by the fluorescence activated chromosome sorter. The chromosomal D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281255
更新日期:1982-01-01 00:00:00
abstract::Recently, a mutation at nucleotide 1193 of the glucocerebrosidase gene was described in a patient with type 1 Gaucher disease. This mutation destroys a TaqI site in a polymerase chain reaction (PCR)-amplified fragment. We used digestion with this enzyme to screen DNA samples from Gaucher disease patients representing ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210614
更新日期:1994-02-01 00:00:00
abstract::The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050326
更新日期:1997-01-01 00:00:00
abstract::Recent studies indicate that, whereas the Sardinian population as a whole is comparable to outbred populations for linkage disequilibrium (LD) mapping of common variants, LD in Sardinian sub-isolates is more extended, making these populations particularly suitable for this approach. To evaluate the extent of LD betwee...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0753-z
更新日期:2002-07-01 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::Schizophrenia (SCZ) is a severe psychiatric illness with a lifetime prevalence of 0.4 %. A disturbance of energy metabolism has been suggested as part of the etiopathogenesis of the disorder. Several lines of evidence have proposed a connection between etiopathogenesis of SCZ and human brain evolution, which was chara...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1491-8
更新日期:2015-01-01 00:00:00
abstract::Five families with at least three generations of members affected with autosomal dominant spinocerebellar ataxia (SCA) were studied. HLA typing was carried out and the coded HLA haplotypes were used to calculate the likelihood of linkage using the LIPED computer program. The combined lod scores from these five familie...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00290959
更新日期:1986-04-01 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::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::Peripheral blood cultures of five healthy chromosomally normal adults were used to study the lateral orientation of mitotic chromatids in satellite associations. Chromosomes were prepared after bromodeoxyuridine substitution for two S phases and the fluorescence-plus-Giemsa (FPG) technique. Conventionally stained prep...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291326
更新日期:1982-01-01 00:00:00
abstract::Our purpose is to assess whether genotypes of the vitamin D receptor (VDR) and estrogen receptor (ER) and their interaction influence changes in bone mass in postmenopausal Caucasian women with and without hormone replacement therapy (HRT). A population of 108 US Mid-West women who participated in a study of low-dose ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050872
更新日期:1998-11-01 00:00:00
abstract::The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050888
更新日期:1998-12-01 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::In human females, both X chromosomes are equivalent in size and genetic content, and pairing and recombination can theoretically occur anywhere along their entire length. In human males, however, only small regions of sequence identity exist between the sex chromosomes. Recombination and genetic exchange is restricted...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF01247327
更新日期:1993-10-01 00:00:00
abstract::A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278889
更新日期:1976-10-28 00:00:00
abstract::Increasing experimental evidence supports a connection between inflammation and mitochondrial dysfunction. Both acute and chronic inflammatory diseases course with elevated free radicals production that may affect mitochondrial proteins, lipids, and mtDNA. The subsequent mitochondrial impairment produces more reactive...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-011-1057-y
更新日期:2012-02-01 00:00:00