Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Overlapping PCR”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,081 records · Page 60Linked to original sources
PubMed2003

Jessner's lymphocytic infiltration of the skin: a CD8+ polyclonal reactive skin condition.

BACKGROUND: Jessner's lymphocytic infiltration of the skin (JLIS) is a clinically and histologically distinct disease entity. Conflicting results have been reported concerning its differentiation from cutaneous lupus erythematosus and polymorphous light eruption, its relationship to palpable migratory arciform erythema and its classification as a B-cell or a CD4+ T-cell lymphoproliferative disease. OBJECTIVE: Our study was performed in order to re-evaluate JLIS clinically and by immunohistochemical and molecular analyses. METHODS: Stringent inclusion/exclusion criteria were used to collect a cohort of 34 patients with JLIS that did not overlap with lupus erythematosus or polymorphous light eruption. Clinical data were analysed, and immunohistochemical and molecular studies were performed including TCR-gamma PCR GeneScan software analysis of tissue and peripheral blood samples. RESULTS: In the majority of the patients, the lesions consisted only of papules and plaques while in 12% annular lesions were also seen. The lesions were found on the face (38%), on the trunk and arms (50%) or at both sites (12%). Immunohistochemical analyses revealed a clear predominance of T cells in all patients, and of CD8+ T cells in 77% of the patients. As judged by TCR-gamma PCR GeneScan analysis, 98 and 79% of the tissue and peripheral blood samples, respectively, showed a polyclonal T-cell population; identical T-cell clones were not detected concomitantly in both the skin and the peripheral blood of the same patient. CONCLUSIONS: JLIS occurs at 2 major predilection sites, that is the face and trunk. Therefore introduction of palpable migratory arciform erythema as a separate entity is not justified. The lymphoid infiltrates are dominated immunohistochemically by CD8+ T cells that do not show clonality on molecular analysis. Thus, JLIS represents a characteristic CD8+ polyclonal reactive skin condition.

Adult↗
PubMed2006

Subgingival and tongue microbiota during early periodontitis.

Periodontal infections have a microbial etiology. Association of species with early disease would be useful in determining which microbes initiate periodontitis. We hypothesized that the microbiota of subgingival and tongue samples would differ between early periodontitis and health. A cross-sectional evaluation of 141 healthy and early periodontitis adults was performed with the use of oligonucleotide probes and PCR. Most species differed in associations with sample sites; most subgingival species were associated with subgingival samples. Few species were detected more frequently in early periodontitis by DNA probes. Porphyromonas gingivalis and Tannerella forsythia (Tannerella forsythensis) were associated with early periodontitis by direct PCR. In conclusion, the microbiota of tongue samples was less sensitive than that of subgingival samples in detecting periodontal species, and there was overlap in species detected in health and early periodontitis. Detection of periodontal pathogens in early periodontitis suggests an etiology similar to that of more advanced disease.

Adult↗
PubMed2006

Distribution of PACAP in the brain of the cartilaginous fish torpedo marmorata.

In this article, we investigated the distribution of pituitary adenylate cyclase-activating polypeptide (PACAP) and its mRNA by immunohistochemistry, in situ hybridization, and RT-PCR techniques, in the central nervous system of the elasmobranch Torpedo marmorata. RT-PCR analysis showed that the CNS of T. marmorata expresses a messenger encoding PACAP. The immunohistochemistry and in situ hybridization patterns were partly overlapping, with a major expression in the hypothalamo-pituitary region and, surprisingly, in the saccus vasculosus. Our results show that, in T. marmorata, PACAP is synthesized and widely distributed in the CNS, suggesting an as yet unidentified role for this peptide in elasmobranch brain physiology.

Animals↗
PubMed2006

Different roles of Runx2 during early neural crest-derived bone and tooth development.

UNLABELLED: We compared gene expression profiles between Runx2 null mutant mice and their wildtype littermates. Most Runx2-dependent genes in bones were different from those in teeth, implying that the target genes of Runx2 are tissue-dependent. In vitro experiments determined that Runx2 is a part of the FGF and BMP signaling pathways in tooth and bone development, respectively. INTRODUCTION: Runx2 (Cbfa1) is expressed in the neural crest-derived mesenchyme of developing bone and tooth. Runx2 homozygous null mice lack bone through a failure in osteoblast differentiation and have arrested tooth development at the late bud stage. The aim of this study was to discover and compare the identities and the roles of Runx2 target genes in bone and tooth development. MATERIALS AND METHODS: Wildtype and Runx2-/- tissue was collected from mouse embryos, and gene expression was compared by Affymetrix microarray analysis and radioactive in situ hybridization of embryonic tissue sections (E12-E14). Induction of target genes by growth factors in bone and tooth tissue was studied using in vitro experiments, including a novel method involving hanging-drop cultures and RT-PCR. RESULTS: Thirteen bone and four tooth genes were identified that are Runx2-dependent. The identities of these genes do not significantly overlap between bone and tooth, indicating tissue specificity of several genes regulated by Runx2. Genes downregulated in bone development in Runx2 null mutants were Bambi, Bmp4, Bono1, Dkk1, Fgf receptor1, Gli1, Lef1, Patched, Prostaglandin F receptor1, Tcf1, Tgfbeta1, Wnt10a, and Wnt10b. Several of these genes were induced by BMPs in bone tissue in a Runx2-independent manner. Genes downregulated in tooth development were Dkk1, Dusp6, Enpp1, and Igfbp3. These genes were all induced by fibroblast growth factors (FGFs) in dental tissue. FGF-induction of Dkk1 was completely dependent on Runx2 function. CONCLUSIONS: The contrasting identities and distinctive mechanisms that stimulate the expression of Runx2-dependent genes in bone and tooth development imply that the developmental roles of Runx2 in these separate tissues are different. In tooth development, Dkk1 may be a direct transcriptional target of Runx2. Bone genes were stimulated by BMP4 before the formation of the ossification center, suggesting that BMPs may mediate the early epithelial-mesenchymal interactions involved in bone formation.

Animals↗
PubMed1999

Differential display probes for cDNA arrays.

PCR with a combination of one arbitrary and one oligo(dT) anchor primer can be used to generate an effective probe for cDNA arrays. The method uses less than 1/200 of the amount of RNA used in some other array hybridization methods. Each fingerprint detects approximately 5% of the transcribed mRNAs, sampled almost independent of abundance, using inexpensive E. coli colony arrays of expressed sequence tag (EST) clones. It proved necessary to alter the differential display (DD) protocol to generate a sufficient mass of PCR products for use as a probe. The use of different oligo(dT) anchor primers with the same arbitrary primer resulted in considerable overlap among the genes sampled by each probe. This can be avoided by using different arbitrary primers with each oligo(dT) anchor primer. Four genes not previously known to be regulated by epidermal growth factor (EGF) and three genes known to be regulated by EGF in other cell types were characterized using DD fingerprints as probes for arrays. It should be possible to convert archived DD fingerprints into effective probes for arrays, allowing thousands of experiments that have already been performed to yield further information. The use of DD fingerprints as probes should increase the rate of identification of differentially regulated genes several fold while obviating the need for cloning and sequencing.

Cell Line↗
PubMed2006

Characterization and role of p53 family members in the symbiont-induced morphogenesis of the Euprymna scolopes light organ.

Within hours of hatching, the squid Euprymna scolopes forms a specific light organ symbiosis with the marine luminous bacterium Vibrio fischeri. Interactions with the symbiont result in the loss of a complex ciliated epithelium dedicated to promoting colonization of host tissue, and some or all of this loss is due to widespread, symbiont-induced apoptosis. Members of the p53 family, including p53, p63, and p73, are conserved across broad phyletic lines and p63 is thought to be the ancestral gene. These proteins have been shown to induce apoptosis and developmental morphogenesis. In this study, we characterized p63-like transcripts from mRNA isolated from the symbiotic tissues of E. scolopes and described their role in symbiont-induced morphogenesis. Using degenerate RT-PCR and RACE PCR, we identified two p63-like transcripts encoding proteins of 431 and 567 amino acids. These transcripts shared identical nucleotides where they overlapped, suggesting that they are splice variants of the same gene. Immunocytochemistry and Western blots using an antibody specific for E. scolopes suggested that the p53 family members are activated in cells of the symbiont-harvesting structures of the symbiotic light organ. We propose that once the symbiosis is initiated, a symbiont-induced signal activates p53 family members, inducing apoptosis and developmental morphogenesis of the light organ.

Aliivibrio fischeri↗
PubMed2003

[Eukaryotic expression of human LIGHT-Fc chimeric molecule and its anti-tumor activity].

AIM: Construct eukaryotic expression plasmid of hLIGHT-Fc gene and express hLIGHT-Fc fusion protein with high biological activity. METHODS: Utilizing PCR to clone the human LIGHT cDNA from a normal human activated T cells cDNA library phAD. CAD, then using SOE (splicing by overlap extension) technique to fuse CD137 signal peptide gene into LIGHT extramembrane domain encoding sequence, inserting this recombinated LIGHT cDNA with human IgGI Fc cDNA into the eukaryotic expression plasmid pcDNA3, expressed it transiently in 293T cells, and purified by recombinated protein A affinity chromatography column, at last we checked its Mr, purity and anti-tumor activity. RESULTS: LIGHT-Fc gene's ORF is right and coincident with we expected, then its expression was confirmed by ELISA and SDS-PAGE, and we proved that the purified LIGHT-Fc protein could inhibit the growth of some cultured tumor cell lines by MTT. CONCLUSION: we got a purified recombinated protein of LIGHT-Fc with anti-tumor activity and the anticipated Mr, thus lay a foundation for further works on LIGHT such as its role in immune homeostasis,the mechanism of its receptors' signal transduction, et al.

Antineoplastic Agents↗
PubMed2004

[Sequence polymorphism of mtDNA HV1, HV2 overlapping fragments and coding region 8430-8673nt in Han population of Hebei province].

OBJECTIVE: To investigate the sequence polymorphism of mtDNA HV1,HV2 overlapping fragments and coding region encompassing position 8430-8673 in Hebei Han population. METHODS: Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with sequencing method was used to detect the haplotype distribution of mtDNA in 100 Hebei Han individuals. RESULTS: Ninety-one haplotypes were noted in 100 unrelated individuals. The gene diversity is 0.9985 and the random match probability is 0.0115. Compared with the Anderson sequence, 65 sites of different nucleotide sequences were noted, of which 44 sites were previously registered in MITOMAP, 12 sites were not registered and the gene mutations were different from MITOMAP at 9 positions. CONCLUSION: The obtained data suggest that these loci are valuable genetic markers for personal identification and thus could be used as basic data for the forensic application of mtDNA in Hebei province.

China↗
PubMed2003

Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis.

To date, the diagnosis of polycythemia vera (PV) relies on clinical criteria. We have recently described the overexpression of a hematopoietic receptor, polycythemia rubra vera-1 (PRV-1), in patients with PV. Here, we report a quantitative reverse transcriptase-polymerase chain reaction (RT-PCR) assay for the measurement of PRV-1 mRNA levels. We have determined PRV-1 expression in 71 patients with PV, 11 patients with secondary erythrocytosis (SE), as well as in 80 healthy controls. PV patients express significantly higher amounts of PRV-1 than healthy controls or patients with SE (P <.0001). Because there is no overlap between the PRV-1 expression in PV patients versus healthy controls or SE patients, the assay has a very high sensitivity and specificity for the diagnosis of PV in our population. In patients with erythrocytosis, the quantitative RT-PCR assay described here therefore provides a rapid, highly specific and sensitive tool for the diagnosis of PV.

Adolescent↗
PubMed2006

A prospective analysis of cell-free fetal DNA concentration in maternal plasma as an indicator for adverse pregnancy outcome.

OBJECTIVES: To evaluate whether cell-free fetal (cff) DNA in maternal plasma during the second trimester is a marker for developing pregnancy-associated complications. Two PCR techniques for the detection and quantitation of fetal DNA were compared. METHODS: Plasma samples were prospectively collected from 84 pregnant women carrying male fetuses before amniocentesis (14-29 weeks). We later recorded 26 pregnancies with complicated outcomes, including five cases of fetal chromosomal abnormalities. For statistical analysis, two overlapping subgroups A and B were made. Each group was separately compared for total and fetal DNA with a corresponding group considered normal using Wilcoxon rank sum test. Male fetal DNA concentration in maternal plasma was quantified using real-time quantitative polymerase chain reaction (PCR) of SRY sequences. The samples were also analyzed by quantitative fluorescent PCR (QF-PCR) using highly polymorphic short tandem repeat DNA sequences (STRs), and the percentage of relative fetal allele concentration in maternal alleles was calculated and compared to the fetal/total DNA ratio obtained by real-time PCR. RESULTS: Quantities of total and fetal circulating DNA were significantly correlated (r(2) = 0.44, P < 0.0001) with a median total DNA concentration of 522 GE/mL (range 51-3047) and a median fetal DNA concentration of 8 GE/mL (range 0-879). Neither level was correlated with gestational age in pregnancies with normal (r(2) = -0.05; P = 0.66, and r(2) = 0.02; P = 0.88, respectively) and abnormal (r(2) = 0.45; P = 0.17, and r(2) = 0.11; P = 0.76, respectively) outcomes. Although both total and fetal DNA levels were always higher in women carrying pregnancies with chromosomal aberrations or having other pregnancy complications (P-values range from 0.028 to 0.267), these differences reached statistical significance only for total DNA levels between the group A and corresponding normal pregnancies (P = 0.028). The correlation between the fetal/total DNA ratio obtained by real-time PCR and the percentage of relative fetal allele concentration in maternal alleles obtained by QF-PCR was not found to be statistically significant (r(2) = 0.04; P = 0.76). CONCLUSION: Our results confirm the clinical value of fetal DNA measurement in maternal plasma during the second trimester as a supplement for the diagnosis of aneuploidies. Its use as a screening instrument for complications that develop later in pregnancy seems to be limited but needs further investigation. Although the QF-PCR assay has the advantage of being applicable to both female and male fetuses, this approach cannot be used for quantitation of cff DNA in maternal plasma samples.

Alleles↗
PubMed2000

Development of a fluorogenic 5' nuclease PCR assay for detection of the ail gene of pathogenic Yersinia enterocolitica.

In this report we describe the development and evaluation of a fluorogenic PCR assay for the detection of pathogenic Yersinia enterocolitica. The assay targets the chromosomally encoded attachment and invasion gene, ail. Three primer-probe sets (TM1, TM2, and TM3) amplifying different, yet overlapping, regions of ail were examined for their specificity and sensitivity. All three primer-probe sets were able to detect between 0.25 and 0.5 pg of purified Y. enterocolitica DNA. TM1 identified all 26 Y. enterocolitica strains examined. TM3 was able to detect all strains except one, whereas TM2 was unable to detect 10 of the Y. enterocolitica strains tested. None of the primer-probe sets cross-reacted with any of the 21 non-Y. enterocolitica strains examined. When the TM1 set was utilized, the fluorogenic PCR assay was able to detect </=4 Y. enterocolitica CFU/ml in pure culture and 10 Y. enterocolitica CFU/ml independent of the presence of 10(8) CFU of contaminating bacteria per ml. This set was also capable of detecting </=1 CFU of Y. enterocolitica per g of ground pork or feces after a 24-h enrichment in a Yersinia selective broth.

Animals↗
PubMed2001

Distribution of transcript and protein isoforms of the synaptic glycoprotein neuroplastin in rat retina.

PURPOSE: To examine the expression and localization of the neuroplastins (np), two synapse-enriched members of the immunoglobulin (Ig) superfamily of cell-adhesion molecules, in the developing and adult retina and optic nerve. METHODS: Expressions of the two isoforms np55 and np65 and carboxyl-terminal splice variants were investigated by immunocytochemistry, Western blot analysis, RT-PCR, and in situ hybridization. RESULTS: Immunoreactivity for both neuroplastins was confined to the two synaptic layers of the retina: the inner (IPL) and outer plexiform layer (OPL). Significant overlap was found in staining at synaptic structures with synaptophysin. A large proportion of immunoreactivity for both isoforms, however, was of perisynaptic origin. In situ hybridization studies were suggestive of a pre- and postsynaptic localization of np65 in the OPL. Transcripts for np55 were already present at birth in the inner retina, but the hybridization signals increased during postnatal development. Np65 transcripts and immunosignals appeared at later developmental ages, concomitant with synapse formation in the OPL. Several C-terminal neuroplastin cDNA clones harbor an insert of 12 bp, coding for four amino acids (DDEP) in the intracellular domain of neuroplastins. Splice isoforms containing the insert exhibited a developmental expression pattern similar to that of np55; however, both neuroplastins could harbor the C-terminal insert. Neuroplastins were also detected in optic nerve homogenates. RT-PCR and blockade of axonal transport by nerve crush confirmed transcript and protein expression in optic nerve tissue. CONCLUSIONS: The findings suggest a role for neuroplastins in cell adhesion in the plexiform layers during histogenesis, as well as in maintenance of connections between specific cellular structures.

Animals↗
PubMed1999

Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue.

The balanced translocation t(11;22)(q24;q12) is specific for the Ewing's sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription polymerase chain reaction (RT-PCR). Recent studies also have used fluorescence in situ hybridization (FISH) to show the translocation; however, most of these have been performed on cell lines or touch preparations and short-term cultures of tumors. Moreover, the existing probes generally have shown only the break in the specific chromosomes rather than the translocation itself. We describe our findings with a new set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and directly show the translocation as juxtaposed red-green signals on der(22) in nuclei extracted from formalin-fixed, paraffm-embedded tissues. After establishing the specificity of the probes (on metaphase spreads and interphase nuclei in two translocation-positive cell lines and normal peripheral blood lymphocytes), we evaluated 11 ES/PNETs and 10 other tumors (four alveolar rhabdomyosarcomas, three neuroblastomas, two lymphomas, one extramedullary myeloid tumor) using a two-color FISH assay. All 11 ES/PNETs showed fusion signals in 20% to 80% of evaluable nuclei. In two lymphoma cases, random overlapping signals were present in 2% and 4% of nuclei, whereas the remaining eight tumors were negative. The presence of t(11;22) was confirmed by RT-PCR in 10 of 11 ES/PNETs. We conclude that FISH analysis with this newly designed probe pair is a specific and sensitive method of detecting t(11;22) on routinely processed tissue and can be useful in the differential diagnosis of ES/PNETs from other small round blue cell tumors when only fixed tissue is available.

Adolescent↗
PubMed1999

Fine deletion mapping of chromosome 8p in non-small-cell lung carcinoma.

Several somatic genetic alterations have been described in non-small-cell lung carcinomas (NSCLC). Recurrent chromosomal deletions have suggested the presence of tumor-suppressor genes specifically involved in lung carcinogenesis. For one of these, 2 non-overlapping regions have been proposed on the short arm of chromosome 8, encompassing the LPL and NEFL genes. The LPL region has been extensively studied in NSCLC and other cancer types. Two genes, N33 and PRLTS, have been identified, but the small number of mutations excludes their involvement in the vast majority of tumors. In order to delineate a reliable region of deletional overlap on chromosome 8p in NSCLC, a series of 77 NSCLC was studied for 34 microsatellite polymorphisms distributed on chromosome 8p, using multiplex-PCR amplification. After purification of tumor nuclei by flow cytometry based on either the abnormal DNA index or the presence of a high expression of cytokeratin, allelic losses on chromosome 8p were observed in 39% of cases. Measurement of DNA index showed that 62% of tumors were hyperploid; allelic losses were more frequent in hyperploid than in diploid tumors (54% vs. 14%; p < 10(-4)). Deletions of part of the short arm were observed in 7 instances. Our data allow definition of an interval of common deletion, flanked by the loci D8S511 and D8S1992, where the putative tumor-suppressor gene might be localized.

Carcinoma, Non-Small-Cell Lung↗
PubMed2002

Characterization of mouse CCX-CKR, a receptor for the lymphocyte-attracting chemokines TECK/mCCL25, SLC/mCCL21 and MIP-3beta/mCCL19: comparison to human CCX-CKR.

We report here the identification and characterization of murine CCX-CKR, a high affinity receptor for the murine beta-chemokines SLC/mCCL21, MIP-3beta/mCCL19 and TECK/mCCL25. Unlike most other chemokine receptors, CCX-CKR is unable to mediate Ca(2+) fluxes upon ligand binding when expressed in HEK293 cells. Murine CCX-CKR is expressed predominantly in the heart and lung, but is detectable in most organs using RT-PCR. Interestingly, in brain and testis, an alternative mRNA form of CCX-CKR exists with a unique 5' untranslated region (5'UTR) that overlaps with a novel acyl-CoA dehydrogenase (ACD) gene. Analysis of human CCX-CKR shows that the expression profiles and alternative 5'UTR are conserved. However, in man, there are two copies of the CCX-CKR gene, one on chromosome 3 nestled within the ACD homologue, and one on chromosome 6. These genes encode proteins with only one amino acid difference, and their expression is independently regulated. This study identifies murine CCX-CKR, reveals complex regulation of CCX-CKR gene expression in mouse and man, and is suggestive of non-leukocytic targets for MIP-3beta/CCL19, SLC/CCL21 and TECK/CCL25.

5' Untranslated Regions↗
PubMed1995

RNA transcripts derived from a cloned full-length copy of the feline calicivirus genome do not require VpG for infectivity.

Feline calicivirus (FCV) is a positive-strand, nonenveloped RNA virus in the family Caliciviridae. A cDNA library of the Urbana (URB) strain of FCV was generated and the sequence of the genome was determined from overlapping clones except for 13 bases from the 5'-end. The 5'-end sequence was identified by analysis of clones derived by RT-PCR across the ligated 5'- and 3'-ends of the RNA genome. A full-length cDNA clone of the RNA genome of the URB strain was constructed and placed downstream of the T7 RNA polymerase promoter and RNA transcripts generated in vitro from this clone were infectious when introduced into feline kidney cells. A virus-encoded genome-linked protein, VpG, which is considered to be essential for infectivity of wild-type genomic FCV RNA, was not required for the initiation of FCV infection by the synthetic transcripts. However, the addition of a cap structure analog (m7G(5')ppp(5')G) during in vitro transcription of the synthetic RNA was necessary for successful virus recovery. Two silent mutations engineered into the full-length clone were identified in the genomic RNA from recovered progeny virus. This system of introducing site-specific genetic changes into the genome of feline calicivirus and the recovery of infectious mutant viruses will enable studies related to the molecular basis for replication, growth restriction, and pathogenicity of this and other members of the Caliciviridae.

Animals↗
PubMed1993

The human interleukin-6 receptor alpha chain gene is localized on chromosome 1 band q21.

The human interleukin-6 receptor alpha chain (IL6R alpha) gene was regionally mapped to chromosome 1 band q21 by fluorescence in situ hybridization. As hybridization probes, partially overlapping lambda clones encompassing 28 kb of the genomic region of the gene were used. These clones were isolated using a polymerase chain reaction (PCR)-generated fragment of the 3' non-coding region of the gene. This localization confirms and extends the provisional assignment of the IL6R alpha gene to chromosome 1, for which a panel of somatic cell hybrids was used.

Chromosomes, Human, Pair 1↗
PubMed1995

Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application.

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.

Base Sequence↗