Assignment of Indian hedgehog (IHH) to human chromosome bands 2q33-->q35 by in situ hybridization.
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Base Sequence↗
Biomedical subjects
R Anwar
Publications and source records attributed to R Anwar.
Molecular analysis of the presenilin 1 (S182) gene in "sporadic" cases of Alzheimer's disease: identification and characterisation of unusual splice variants.
Mutations of the presenilin 1 (PS-1) gene at the Alzheimer's disease (AD) FAD3 locus on chromosome 14q24.3 are responsible for the majority of familial early-onset AD. As genes responsible for familial forms of AD are obvious candidates for further investigation in "sporadic" disease, we performed a molecular analysis of PS-1 transcripts extracted from brain tissues of a series of histologically confirmed cases of "sporadic" AD (n=10) and also from histologically "normal" (non-Alzheimer) age-matched brain controls (n=5). No sequence changes in the PS-1 coding sequence were detected after analysis by reverse transcription-PCR. This suggests that the frequency of mutations in the PS-1 (S182) coding region in "sporadic" Alzheimer's disease in very low. However, we demonstrated that the PS-1 gene is highly variably spliced. One splice variant involves the 5' untranslated region of the PS-1 gene only and hence encodes for normal PS-1. Six further splice variants involve coding regions of the PS-1 gene and result in truncated proteins lacking specific transmembrane domains. Most of these variants do not coincide with recognized sites of introns in the PS-1 gene. One of these variants, resulting in the loss of transmembrane domain TM-VII, was found only in an AD patient.
Alternative Splicing↗
Novel primer specific false terminations during DNA sequencing reactions: danger of inaccuracy of mutation analysis in molecular diagnostics.
The determination of nucleotide sequence is fundamental to the identification and molecular analysis of genes. Direct sequencing of PCR products is now becoming a commonplace procedure for haplotype analysis, and for defining mutations and polymorphism within genes, particularly for diagnostic purposes. A previously unrecognised phenomenon, primer related variability, observed in sequence data generated using Taq cycle sequencing and T7 Sequenase sequencing, is reported. This suggests that caution is necessary when interpreting DNA sequence data. This is particularly important in situations where treatment may be dependent on the accuracy of the molecular diagnosis.
Journal Article↗
Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function.
Factor XIII (FXIII) is a zymogen essential for normal haemostasis. In inherited FXIII deficiency the majority of cases show absence of the FXIIIa subunit. Molecular analysis of PCR-amplified FXIIIa subunit exonic regions, and of RT-PCR amplified cDNA from six patients with FXIIIa subunit deficiency, from five unrelated families, has revealed 10 sequence changes: three mutations resulting in abnormal splicing of pre-mRNA, one nonsense mutation, one deletion/insertion change, three point mutations producing Val34Leu, Asn60Lys and Arg408Gln changes, and two silent mutations. In three families the patients are homozygous for a specific deficiency causing mutation, and patients from the remaining two families are compound heterozygotes. Understanding the molecular pathology of the disorder provides insights into the structure-function relationships of the various domains within the FXIII protein. From a clinical point of view, it enables direct diagnosis at the DNA level and may aid the development of FXIII analogues to promote wound healing.
Base Sequence↗
Efficacy of cefixime in the treatment of acute otitis media in children.
OBJECTIVE: To compare the efficacy of cefixime with amoxicillin in the treatment of acute otitis media in children. DESIGN: Randomized, nonblinded study. SETTING: General pediatric clinic at a university hospital in Texas. PARTICIPANTS: A volunteer sample of 201 children, aged 2 months through 6 years. INTERVENTIONS: A 10-day oral course of cefixime (8 mg/kg per day administered once daily) or amoxicillin (40 mg/kg per day administered in three divided doses [every 8 hours]). MEASUREMENTS/MAIN RESULTS: Tympanocentesis for bacterial culture was performed on all affected ears on enrollment and after 4 to 6 days of therapy. The patients were evaluated clinically 4 to 6 days after starting therapy, at the end of therapy, and 3 to 4 weeks after therapy was completed. Using Fisher's Exact Test, no significant difference was found between the two treatment groups for rate of clinical improvement or rate of eradication of Haemophilus influenzae and Streptococcus pneumoniae. However, combining the results from this study and two previously reported studies, cefixime was found to be more effective in eradication of H influenzae and less effective in eradication of S pneumoniae.
Acute Disease↗
The complete DNA sequence of yeast chromosome III.
The entire DNA sequence of chromosome III of the yeast Saccharomyces cerevisiae has been determined. This is the first complete sequence analysis of an entire chromosome from any organism. The 315-kilobase sequence reveals 182 open reading frames for proteins longer than 100 amino acids, of which 37 correspond to known genes and 29 more show some similarity to sequences in databases. Of 55 new open reading frames analysed by gene disruption, three are essential genes; of 42 non-essential genes that were tested, 14 show some discernible effect on phenotype and the remaining 28 have no overt function.
Base Sequence↗
Chondrosarcoma of the maxilla.
A patient was referred to us with a mass in her upper jaw. This was diagnosed to be a chondrosarcoma of the maxilla. The mass was removed surgically. We present the case here and discuss the salient features.
Chondrosarcoma↗
New strategies for emergency services crises.
Hospital emergency departments are in danger of elimination through long-standing neglect of their financial and marketing potential. New strategies to strengthen their capabilities to meet pressing social as well as financial needs can return them to a state of profitability for the hospital and stability for the community needs.
Cost Control↗
DNA sequence analysis of the KM19 locus linked to cystic fibrosis. Design of new oligonucleotides to remove non-specific PCR products.
The PstI polymorphism detected by probe KM19 is a highly informative marker in linkage disequilibrium with the cystic fibrosis locus and has been used extensively for prenatal diagnosis. The currently available primers used for polymerase chain reaction- (PCR-) based analysis of this locus have been shown to produce spurious amplification products. In this report, we describe the sequence of the KM19 locus and the major contaminating PCR product. We have used this information to design a more specific amplification procedure for analysis of the KM19 locus.
Base Sequence↗
A study of battered women presenting in an emergency department.
Medical records of female trauma patients were retrospectively reviewed prior to introducing a protocol for enhancing identification of battered women; 5.6 per cent of 359 female trauma patients were identified as having injuries caused by battering; 30 per cent of 412 patients following use of the protocol were so identified. Standardized protocols for identifying battered women among female trauma patients should be instituted in emergency departments.
Adolescent↗
The advanced cancer patient--a clinical profile.
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Age Factors↗
A 'hot-spot' for Ty transposition on the left arm of yeast chromosome III.
The small ring derivative of Saccharomyces cerevisiae chromosome III, which was formed by a cross-over between HML on the left arm and HMR on the right arm, contains three Ty elements. The class II element Ty 1-17 lies immediately centromere-distal to LEU2 on the left arm while two class I elements are tandemly arranged distal to PGK on the right arm. We have sequenced the regions of chromosome III surrounding Ty 1-17 and have defined a region where a number of transposition events have occurred. This region is flanked by the 5' ends of two tRNA genes, tRNA3Glu on the centromere distal side and tRNA3Leu immediately in front of LEU2. Close to the tRNA3Glu gene there is a region containing degenerate delta sequences organised in opposite orientations. Immediately distal to Ty 1-17 there are two complete solo delta elements, one inserted into the other. The sequence indicates that these two delta sequences were inserted into chromosome II by separate transposition events. A model is presented to explain how this structure arose and the role of solo delta elements in transposon propagation and maintenance is discussed.
Base Sequence↗
An E. coli-yeast shuttle cosmid with positive selection for inserted fragments.
We describe the construction of a cosmid cloning vector, pMT555, which allows positive selection for the presence of an inserted DNA fragment. The vector contains sequences which enable its replication and selection in either E. coli or Saccharomyces cerevisiae. We demonstrate that pMT555 may be used for the efficient construction of total genomic banks from small quantities of donor DNA. The positive selection permits the stable maintenance of the cosmid in E. coli and the faithful replication of inserted sequences.
Cosmids↗
Tension headache in emergency department patients.
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Adolescent↗
A retrospective assessment of emergency department patients with complaint of headache.
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Adolescent↗
Highly polymorphic minisatellite DNA probes. Further evaluation for individual identification and paternity testing.
Reliable and reproducible protocols have been developed for the routine DNA fingerprinting of individuals using the highly polymorphic minisatellite DNA probes 33.15 and 33.6. Comparison of DNA fingerprinting from 50 individuals has generated further data on the level of band sharing in the DNA fingerprints of unrelated individuals, as well as the number of bands scorable in individuals. These results are consistent with previous studies. The occurrence of mutant bands in offspring has been examined in over 100 families. Further support is presented for the Mendelian inheritance of minisatellite loci and for lack of significant allelism and linkage between different variable DNA fragments detected in a human DNA fingerprint.
Alleles↗
Highly polymorphic minisatellite sequences: allele frequencies and mutation rates for five locus-specific probes in a Caucasian population.
Six human minisatellite sequences (MS1, MS8, MS29, MS31, MS43, g3) have been subcloned into a stable host/vector system. Allele frequencies at the hypervariable loci detected by five of these probes were determined in a Caucasian population (200 individuals). Mendelian inheritance has been demonstrated in 5 large multi-generation pedigrees. The mutation rate has been determined in 59 families. The highest mutation rate was observed with MS1, as might be predicted from the observed high heterozygosity and in agreement with previous direct measurement of germ line mutation rates. The data presented on allele frequencies and mutation rates provide preliminary data supporting the use of these probes in paternity analysis and forensic investigations.
Alleles↗
Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis.
The amplification refractory mutation system (ARMS) has been applied to prenatal diagnosis and carrier detection of cystic fibrosis. The nucleotide sequence of both alleles of the PstI restriction fragment length polymorphism at the KM19 locus, which displays linkage disequilibrium with cystic fibrosis, has been determined. ARMS enables direct analysis of alleles of this polymorphism in DNA isolated from chorionic villus biopsy or white blood cells.
Alleles↗