bluuebunny/crossref_metadata_2025 huggingface dataset:
Auditory Perception and Speech Production Skills of Children with Cochlear Implant Assessed by Means of Questionnaire Batteries
Authors: Kubo Takeshi , Iwaki Takako , Sasaki Tomo
Published: May 2008

Objective: The aims of this study were to evaluate early auditory perception and speech production skills, and to compare the outcomes between two groups of children wearing the Nucleus cochlear implant (CI) and Clarion CI. Methods: A total number of subjects were 68 prelingually deaf children who were implanted with a CI at our center, 31 subjects with the Nucleus CI (N-group), and 37 with the Clarion CI (C-group). The early time course of auditory perception and speech production skills were assessed by means of parental interviews using three kinds of questionnaires, the Listening in Progress (LIP) score, the Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) and the Meaningful Use of Speech Scale (MUSS). Results: The basement scores for all three test batteries before the use of CI were poorer for the C-group than the N-group. The scores improved rapidly over the initial 6 months and gradually reached a plateauover a 6- to 12-month period. The speech production skills evaluated by MUSS developed much more slowly and took over 3 years to reach a given level. Conclusions: Our pediatric CI users showed steady development of auditory perception and speech production skills after CI without any significant difference between the two groups.
Partial Neuromuscular Blockage Levels with Mivacurium during Mastoidectomy Allows Intraoperative Facial Nerve Monitoring
Authors: Cengiz M. , Ganidagli S. , Alatas N. , San I. , Baysal Z.
Published: May 2008

Background: Facial nerve monitoring during otologic surgery is helpful for facial nerve preservation, but its usage is closely related to anesthetic procedures. Objectives: The aim of this study was to investigate the effectiveness of mivacurium-based partial neuromuscular blockade on facial nerve monitoring during otologic surgery. Methods: Forty-three patients scheduled for elective otologic surgery (mastoidectomy with and without tympanoplasty) participated in the study. After induction with propofol 2–3 mg · kg–1, remifentanil 1 µg · kg–1 and mivacurium 0.2 mg · kg–1, anesthesia was maintained with isoflurane 0.6–1.6 minimum alveolar concentration and remifentanil 0.25 µg · kg–1 · min–1. Following complete recovery of neuromuscular blockade during induction, mivacurium infusion was initiated at 6 µg · kg–1 · min–1 in an adjusted dose to reflect adductor pollicis activity of 50, 75 or 100% of normal. The minimum stimulation thresholds obtained from each case were recorded. Results: Pre- and postoperatively, all 43 patients demonstrated clinically normal facial nerve function. In all cases, intraoperative facial nerve monitoring was performed successfully. There were no differences in threshold levels of the facial nerve stimulation between group I (1.84 ± 0.4 mA ) and group II (1.97 ± 0.2 mA). However, the stimulation thresholds of group III (1.53 ± 0.4 mA ) were found to be lower than those of groups I and II (p < 0.05). Conclusion: We conclude that partial neuromuscular blockade with mivacurium permits intraoperative facial nerve monitoring.
Depression, Quality of Life and Malnutrition-Inflammation Scores in Hemodialysis Patients
Authors: Ibrahim Salwa , El Salamony Omima
Published: May 2008

Background: Depression is the most common psychiatric illness in patients with end-stage renal disease (ESRD), and has been associated with increased risk of death, cardiovascular events and hospitalization in a substantial proportion of patients. Impaired quality of life (QoL) has been reported in dialysis patients and is a marker of poor outcome. We aimed to assess the prevalence of depression and QoL status among chronic hemodialysis patients. We explored the relationship between depressive symptoms and poor QoL on the one hand and sociodemographic profile, dialysis adequacy, serum chemistry, malnutrition-inflammation score (MIS) and symptom burden on the other hand. Patients and Methods: 60 chronic hemodialysis patients participated in the study between June and August 2007. They were on thrice-weekly dialysis at the Kasr El-Aini Nephrology and Dialysis Center, Cairo University Hospital. Clinical and sociodemographic data were obtained and their case records were reviewed to obtain laboratory results including hemoglobin, urea reduction ratio, serum albumin, calcium, phosphorus, creatinine and total iron-binding capacity. We used the Beck Depression Inventory (BDI) to assess the severity of depression, and the SF-36 questionnaire to assess QoL in the study group. MIS was used to assess the extent of malnutrition and inflammation complex and total symptom burden was evaluated using the dialysis symptom index (DSI). Results: Mean age was 46.13 ± 16.55 years, with a range of 22–77 years. 20 patients (33.33%) had a BDI score of ≧15. Two patients (3.33%) had a QoL total score of <50, 8 (13.33%) had scores in the range of 50–60, 30 (50%) had scores in the range of 60–70, 12 (20%) had scores of 70–80, and 8 patients (13.3%) had scores in the range of 80–90. Employment was found to significantly affect BDI scores; all patients with BDI scores ≧15 were unemployed. The mean BDI score of unemployed patients was significantly higher than employed patients (13.03 ± 6.27 vs. 8.50 ± 3.51, p = 0.03). Widowed patients had significantly higher BDI and lower F-36 scores compared to single, married and divorced patients (p < 0.05). DSI and MIS showed significant positive correlations with BDI scores (p < 0.05) and significant negative correlations with F-36 scores (p < 0.05). Conclusions: Our results showed a high prevalence of depressive symptoms among the study group that was linked to poor QoL, total symptom burden and malnutrition-inflammation complex.
An Experimental Study on Antimicrobial Activity of Silicone Oil in vitro
Authors: Yan Hua , Li Jun
Published: May 2008

Objective: To study the antimicrobial activity of silicone oil against Staphylococcus aureus, Staphylococcus epidermidis, Pseudomonas aeruginosa and Candida albicans in vitro. Methods:S. aureus, S. epidermidis, P. aeruginosa and C. albicans were prepared to 1 McFarland turbidity, 105 and 103 CFU/ml. The bacteria and fungi were inoculated into silicone oil (Acri.Sil-ol 5000), physiologic saline, meat extract broth for bacteria and Sabouraud broth for fungi, respectively. From each sample, 10 µl were taken and plated in petri dishes with the addition of blood agar media for bacteria and Sabouraud dextrose agar for fungi. After overnight incubation, CFUs were enumerated. Cultured from the initially prepared specimens, overnight incubation and CFU counting were repeated until no growth of microorganisms was seen in the silicone oil-containing media. Results: (1) In the group 1 McFarland, S. aureus, S. epidermidis, P. aeruginosa and C. albicans survived for 13, 6, 20, and 16 days in silicone oil, respectively, which was shorter than in the other media. (2) In the group 105 CFU/ml, S. aureus, S. epidermidis, P. aeruginosa and C. albicans survived for 2, 6, 20, and 1 days in silicone oil, respectively, which was shorter than in the other media. (3) In the group 103 CFU/ml, S. aureus, S. epidermidis, P. aeruginosa and C. albicans survived for 1, 1, 20, and 1 days in silicone oil, respectively, which was shorter than in the other media. Conclusion: Silicone oil has a significant antimicrobial activity against S. aureus, S. epidermidis, P. aeruginosa and C. albicans in vitro.
Correlates of the Perceived Need for Institutionalisation among Older Adults without Cognitive Impairment
Authors: Dubois Marie-France , Dubuc Nicole , Raîche Michel , Caron Chantal D. , Hébert Réjean
Published: May 2008

Background: While many studies investigate the factors that influence the institutionalisation of older persons, only a few consider one of its most important predictors, namely, the perceived need for institutionalisation. Also referred to as ‘desire for institutionalisation’, it has mainly been investigated for informal caregivers of older adults suffering from dementia. Not many studies target caregivers of people without dementia; even fewer have been interested in the older adult’s own perceived need. Objective: To measure the prevalence and identify the correlates of the perceived need for institutionalisation among community-dwelling older adults without cognitive impairment. Methods: During the fourth wave of the longitudinal PRISMA study, cognitive-impairment-free participants (78 years or older and at risk of functional decline) were presented with three questions assessing their perceived need for institutionalisation. Correlates were identified through multivariable logistic regression analyses. Analyses were conducted separately for two types of home living arrangements: individual and collective dwellings. Results: 27% of the older adults at least thought about institutionalisation, irrespective of their current living arrangements. For homeowners/tenants, age ranging from 80 to 85, transfer and vision problems, the absence or advanced age of the informal caregiver, and the use of the ER or help for home maintenance during the past year led them to think about institutionalisation. Seniors living in collective dwellings think about institutionalisation after experiencing a recent highly significant functional decline, when feeling that their current environment fails to meet needs, and after requiring the use of voluntary services during the past year. Conclusions: The percentage of community-dwelling older adults considering institutionalisation is the same for people currently in individual or collective settings. Factors related to physical disabilities and insufficiencies of resources are important correlates, with specific factors differing between the two types of current living arrangements.
Sex chromosome loss and clones characterized by autosomal abnormality in cultured corneal fibroblasts of man
Authors: Fitzgerald P.H. , Rosman I.
Published: May 2008

Cultured fibroblasts from 7 of 14 corneas showed loss of a sex chromosome in 20–100% of metaphase cells. An X chromosome was lost from female cells, a Y from male cells. Sex chromosome loss was more common in ophthalmologically abnormal corneas but did not show a strong correlation with donor age or with longer time in culture. Clones characterized by autosomal aneuploidy and aberrations were present in corneal cultures from seven donors. Their presence was not related to the incidence of sex chromosomal loss or prolonged culture time. Our results suggest that human corneal cells have a tendency toward loss of a sex chromosome and toward autosomal change, and that such cells form clones. It has yet to be determined if corneal cells undergo these cytogenetic changes and clone formation in vivo.
Regional localization of α-galactosidase (GLA) to Xpter→q22, hexosaminidase B (HEXB) to 5q13→qter, and arylsulfatase B (ARSB) to 5pter→q13
Authors: Fox M.F. , DuToit D.L. , Warnich L. , Retief A.E.
Published: May 2008

Two series of somatic cell hybrids were made by fusion of human cells with karyotypes 46, X, t(X;2;15)(q22;p12;p12) and 46, XX, t(5;7)(q13;p15) and rodent cells. Chromosome and isozyme analysis of human chromosomes and gene products in the hybrids localized GLA to Xpter→q22, HEXB to 5q13→qter, in both cases narrowing the regional assignments, and ARSB to 5pter→q13.
Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding
Authors: Ikeuchi T.
Published: May 2008

Ethidium bromide (EB) is known to intercalate between stacked base pairs without specific base-pair preference. Its use in cultured human lymphocytes and Burkitt’s lymphoma cells resulted in the accumulation of cells in prophase and prometaphase stages. Inhibition of mitotic chromosome condensation as a possible mechanism involved in this phenomenon is discussed. A simple method for obtaining high-resolution banding patterns on elongated chromosomes was devised as follows: Human lymphocytes cultured for 3 days with phytohemagglutinin were exposed to EB (5–10 µg/ml) and Colcemid (0.02 µg/ml) simultaneously for 2 h and then routinely harvested for chromosome preparation. High-resolution G-bands were obtained by Giemsa staining following mild trypsin treatment.
Human formaldehyde dehydrogenase (FDH) and its assignment to chromosome 4
Authors: Khan Meera , Wijnen L.M.M. , Hagemeijer A. , Pearson P.L.
Published: May 2008

A Cellogel procedure for electrophoretic characterization of formaldehyde dehydrogenase (FDH) is described. Isozyme profiles in 24 different human tissues indicate extreme quantitative heterogeneity and the existence of one major form and at least two minor forms of FDH in man. Biochemical and genetic analysis of the enzyme in Chinese hamster-human somatic cell hybrids has shown that the functional molecule of FDH is probably composed of two identical subunits and that its structural locus may be assigned to human chromosome 4.
Patterns of heterochromatin replication and condensation correlate in rat kangaroo PtK2 cells
Authors: Goitein R. , Hirschberg J. , Marcus M. , Sperling K.
Published: May 2008

Chromosome replication in mammalian cells is an ordered phenomenon. This is true also for the condensation in G2 of the heterochromatic chromosomal regions in mouse cells. The generality of this phenomenon and its mechanism are not known, nor is it known whether the order of condensation of the heterochromatic chromosomal segments in G2 reflects the order of replication or is independent of it. We determined the order of replication during the S phase and of condensation in G2 of the short heterochromatic chromosomal regions in the rat kangaroo cell line PtK2. The kinetics of condensation of these regions in G2 was studied in cells treated with Hoechst 33258. Their order of replication was established with the use of a sensitive technique based on the treatment of living cells with 5-bromodeoxyuridine and Hoechst 33258. Our results show that these regions exhibit a similar pattern of replication in S and condensation in G2.
X;Y translocation in a female with streak gonads, H-Y– phenotype, and some features of Turner’s syndrome
Authors: Kelly T.E. , Wachtel S.S. , Cahill L. , Barnabei V.M. , Willson-Suddath K. , Wyandt H.E.
Published: May 2008

In women X;Y translocations usually arise as Xp-Yq exchanges. We describe a 17-year-old female with streak gonads, some minor features of Turner’s syndrome, and an X;Y translocation involving an exchange between Xq and Yq. Histological examination of the gonads revealed a fibrous stroma with prominent hilar cells. Cultured fibroblasts and peripheral lymphocytes were typed H-Y∼. Examination of a buccal smear revealed a single intranuclear structure with the appearance of both a Barr body and a fluorescent Y body. This finding was consistent with the results of BrdU studies showing that the translocation X chromosome had been inactivated in all cells analyzed.
Karyotypes of the East African common zebra, Equus burchelli: centric fission in a pedigree
Authors: Whitehouse D.B. , Evans E.P. , Putt W. , George A.M.
Published: May 2008

A centric fission found in an East African common zebra (Equus burchelli) pedigree is described. G-banding identified the chromosome of origin and suggested that a possible loss of chromatin occurred during the fission process. The phenomenon is discussed in the light of established models of chromosome fission and fusion.
Cytogenetic analysis of two species of African Murids, Mus oubanguiiand Mus minutoides/musculoides: chromosomal polymorphism and outline of a phylogeny
Authors: Jotterand-Bellomo M.
Published: May 2008

The karyotypes of four Mus oubanguii and two Mus minutoides/musculoides were studied by Q-, G-, and C-banding, Ag-staining, and incorporation of distamycine A. The results permit some considerations about the karyotypes of these two species and suggest that the karyotypes of Mus oubanguii and Mus minutoides/musculoides have arisen from a common ancestral karyotype, the former through centric and tandem fusions first and then through pericentric inversions, the latter through centric fusions.
A comparison of sister chromatid exchange frequencies in peripheral lymphocytes and bone marrow cells of Fischer 344 and Sprague-Dawley rats
Authors: Dearfield K.L. , Jacobson-Kram D. , Williams J.R.
Published: May 2008

We have investigated spontaneous sister chromatid exchange (SCE) frequencies in peripheral lymphocytes and bone marrow cells explanted from two strains of the laboratory rat, Fischer 344 and Sprague-Dawley. A small, but significant difference was noted for both cell types, with the Fischer 344 rat being consistently higher. Other cell parameters, such as the mitotic index and the replicative index, were similar in the two strains. SCE levels in cultured peripheral lymphocytes after intraperitoneal administration of the alkylating drug cyclophosphamide (10 mg/kg) were similar for the two strains. Fischer 344 rats are known to have approximately a 10-fold higher incidence of spontaneous leukemia than do Sprague-Dawley rats. Since SCE frequency is a sensitive measure of DNA damage, our observations suggest that high leukemia incidence in the Fischer 344 rat may be related to a higher level of spontaneous DNA damage.
The chromosomes of Micromys minutus (Rodentia, Murinae)
Authors: Schmid M. , Solleder E. , Haaf T.
Published: May 2008

The mitotic and meiotic chromosomes of the harvest mouse Micromys minutus were analyzed with several banding techniques. This species possesses an unusually high chromosome number for the subfamily Murinae. Approximately 32% of the karyotype consists of constitutive heterochromatin, which can be labeled with AT base pair-specific fluorochromes. In meiosis in males, the XY bivalent differs from most mammalian XY bivalents in that it has an exceptional trefoil-like pairing configuration. Banding analysis of the XY bivalent revealed that a very small euchromatic region near the centromere of the otherwise entirely heterochromatic Y chromosome pairs with a segment near the centromere in the long arm of the X chromosome.
Plasmid, phage, and genomic DNA-mediated transfer and expression of prokaryotic and eukaryotic genes in cultured human cells
Authors: Srivatsan E.S. , Stanbridge E.J. , Saxon P.J. , Stambrook P.J. , Trill J.J. , Tischfield J.A.
Published: May 2008

Transfection of mammalian cells with genomic DNA and cloned genes is now relatively routine. However, the vast majority of studies have used rodent cells as recipients. Here we describe efficient transfection of two human cell lines, the hypoxanthine guanine phosphoribosyltransferase (HPRT)-deficient HeLa line, D98/AH-2, and the adenine phosphoribosyltransferase (APRT)-deficient HT1080 line, HTD 114. D98/AH-2 cells were transfected with the pSV2-gpt plasmid of Mulligan and Berg, which contains the E. coli xanthine-guanine phosphoribosyltransferase (gpt) gene, and Gpt+ transfectants were selected in HAT medium. HTD 114 cells were transfected with (1) genomic hamster DNA, and ouabain resistant transfectants were selected in 5 × 10–7 M ouabain; (2) with hamster and mouse genomic DNA, and Aprt+ cells were selected in AAA medium; (3) with plasmids containing either the cloned hamster or mouse APRT genes, and Aprt+ cells were selected; and (4) with phage particles containing a cloned mouse APRT gene, and Aprt+ cells were selected. Transfection efficiencies ranged from 0.25 to 1.5 × 103 transfectants per µg DNA, and in certain cases secondary transfections were done. Foreign DNA in recipients was detected by blot hybridization, and the expression of foreign genes was detected by cell growth in selective media and the expression of enzymes characteristic of the species of the donor DNA. The majority of transfectants showed stable expression of the transgenome.
Random X inactivation resulting in mosaic nullisomy of region Xp21.1→p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease
Authors: Francke U.
Published: May 2008

A young woman with normal gonadal development and mild mental retardation was found to have a small de novo interstitial deletion of most of band Xp21, karyotype designation 46, X, del(X) (pter→p21.3::p21.1→qter). Replication studies on lymphocytes and skin fibroblasts revealed that in 45% of cells the normal X was late replicating. Somatic cell hybrids between her fibroblasts and HPRT-deficient Chinese hamster cells were obtained and selected for and against retention of the active human X chromosome. In several independent hybrids the deleted X was retained in the active state. Partial ornithine transcarbamylase (ornithine carbamoyltransferase EC 2.1.3.3) (OTC) deficiency was documented by elevated urinary orotic acid excretion and increased serum glutamine after a protein load. This confirms the mapping of the structural gene for OTC to this deletion. Testing of neutrophil function revealed heterozygosity for chronic granulomatous disease (CGD) suggesting that a gene for CGD maps within the deletion. Thus, X inactivation mosaicism is also present in hepatocytes and neutrophilic granulocytes. Random X inactivation in a female with an Xp deletion has not been previously reported. The cells from this patient and the somatic cell hybrids containing her deleted X chromosome in the absence of the normal X provide material for the precise mapping of X linked genes and DNA sequences on the short arm of the human X chromosome.
In vitro growth and chromosome constitution of placental cells
Authors: Hunt P.A. , Jacobs P.A.
Published: May 2008

Placental cultures from chromosomally normal spontaneous abortions, as well as placental and fetal cultures from chromosomally normal elective abortions, were established, and the growth and cytogenetic constitution of the cultures were compared. Fetal cultures grew well and remained chromosomally stable over the entire 100-day period of observation. In contrast, placental cultures were relatively short-lived, many becoming senescent and dying within the time of observation. This was particularly marked in cultures established from spontaneous abortions. Five of the 18 cultures established from spontaneous abortions, but only 1 of the 24 cultures from elective abortions, developed chromosomally abnormal clones. The emergence of such clones was unrelated to the senescence of the cultures.
In vitro growth and chromosome constitution of placental cells
Authors: Hunt P.A. , Jacobs P.A.
Published: May 2008

Histopathological features, in vitro growth, and cytogenetic characteristics of tissue samples from molar placentae were studied. Tissue from complete moles is often degenerate, making them more difficult to establish in culture. However, if viable stromal cells are present, complete moles can be cultured as easily as other placental tissue. Longitudinal cytogenetic studies of molar cultures showed the emergence of clonal chromosome abnormalities to be a common feature in both complete and partial moles. The distribution of chromosome abnormalities among these clones was nonrandom, with a high proportion having an additional chromosome 20; among the complete moles, 9 of the 14 clones studied were trisomic for chromosome 20.
Identification of sex chromosomes in lake trout (Salvelinus namaycush)
Authors: Phillips R.B. , Ihssen P.E.
Published: May 2008

In the male trout there is a difference in the quinacrine banding and C-banding patterns between the two homologs of the second largest chromosome pair. This chromosome is the only large submetacentric in the karyotype, making it easy to identify and suggesting that the sex chromosomes have become differentiated since the time of tetraploidization. In males one homolog has a medium-to-large quinacrine bright heterochromatic band on the end of the short arm, while the other lacks it completely. In females both homologs have medium-to-large quinacrine bright heterochromatic bands. Approximately half the progeny from every lake trout cross studied and half the eggs from every lake trout population examined were heteromorphic for a difference in this chromosome band. Results from sexed fish, reciprocal F1hybrids between brook trout and lake trout, and gynogenetic haploids are all consistent with the interpretation that chromosome 2 is the sex chromosome. These results suggest that the addition of heterochromatin to the X can be the first step in the inhibition of crossing over between the X and Y chromosomes required for sex chromosome differentiation.
Correlation between sexual phenotype and X-chromosome inactivation pattern in the X*XY wood lemming
Authors: Schempp W. , Wiberg U. , Fredga K.
Published: May 2008

Replication patterns of the X chromosomes were studied in X*XY wood lemmings with male and female phenotypes. The wild-type X was late replicating (ie, inactivated) in all cells of the X*XY female, whereas the mutated X* was late replicating in all cells of the X*XY male. These findings are compared with those obtained in sex-reversed (Sxr) mice.
Cell surface differentiation antigen of human muscle encoded by a gene (MIC12) on chromosome 15
Authors: Walsh F.S. , Quinn C.A. , Pym B. , Goodfellow P.N.
Published: May 2008

Monoclonal antibody 30.2A8 was produced by a hybridoma made by fusing cells from rats that had been immunized with rat-human muscle cell hybrids. The 30.2A8 reacts with a differentiation antigen in human skeletal muscle that is synthesized by myoblasts but not myotubes. The gene controlling synthesis of the antigen recognized by 30.2A8 was found to be encoded by human chromosome 15.
Chromosomal phylogeny of Lagothrix, Brachyteles, and Cacajao
Authors: Péquignot Viegas , Koiffmann C.P. , Dutrillaux B.
Published: May 2008

Based on a comparison of the karyotypes of two Plathyrrhini species, Cacajao melanocephalus (Pitheciinae) and Brachyteles arachnoides (Atelinae), with those of two previously studied species, Lagothrix lagothrica (Atelinae) and C calvus rubicundus (Pitheciinae), it appears that the two Cacajao species have undergone the same number of chromosome rearrangements since they diverged from their common ancestor and that the karyotype of Brachyteles is ancestral to that of Lagothrix. The chromosomal phylogeny of these four species is proposed. A Y-autosome translocation is present in the karyotypes of the two Cacajao species.
Equivalence of nucleolar organizer activity among primate species
Authors: Quirk S. , Henderson A.S.
Published: May 2008

The number of ribosomal DNA (rDNA)-containing chromosomes and the amount of total rDNA vary widely among primate species. In spite of numerical variations, the mean number of ribosomal (rRNA) genes that participate in nucleolar organization is approximately the same.
The high-resolution RBA-banding pattern of bovine chromosomes
Authors: Di Berardino D. , Lannuzzi L. , Lioi M.B.
Published: May 2008

The high-resolution RBA-banding pattern of bovine chromosomes (Bos taurus L.), together with a diagrammatic representation, are presented. The haploid set of prometaphase chromosomes shows 521 bands, 183 of which are positive, 257 negative, and 81 variable. Compared to early metaphase chromosomes, the prometaphase chromosomes show 50% more bands, resulting in a more accurate description of the banding pattern of individual chromosomes of this species.
Chromosome mapping of genes on the short arm of human chromosome 11: parathyroid hormone gene is at 11p15 together with the genes for insulin, c-Harvey-ras 1, and β-hemoglobin
Authors: Zabel B.U. , Kronenberg H.M. , Bell G.I. , Shows T.B.
Published: May 2008

The human parathyroid hormone gene (PTH) was mapped to the 11p15 chromosomal band by in situ hybridization. Using the same procedures and cells, the closely linked β-hemoglobin gene (HBB), the Harvey-ras 1 proto-oncogene (HRASl), and the insulin gene (INS) were also mapped to this same region. Some reports have demonstrated differences in regional localization of the latter three genes, and linkage and molecular studies have not resolved how far this linkage group extends from p15 toward the centromere on the physical gene map. Our results show that all of these genes are localized at llpl5, a region of one chromosomal band that appears to comprise a genetic distance of more than 20 cM.
Assignment of the porcine major histocompatibility complex to chromosome 7 by in situ hybridization
Authors: Rabin M. , Fries R. , Singer D. , Ruddle F.H.
Published: May 2008

The major histocompatibility complex (SLA) of the domestic pig (Sus scrofa) was regionally mapped to 7p12→q12 by in situ hybridization with an SLA class I-specific recombinant DNA probe. This localization contradicts linkage data suggesting a possible assignment of the SLA locus to porcine chromosome 15.
Localization of the α and β casein genes to the q24 region of chromosome 12 in the rabbit (Oryctolagus cuniculus L.) by in situ hybridization
Authors: Gellin J. , Echard G. , Yerle M. , Dalens M. , Chevalet C. , Gillois M.
Published: May 2008

The syntenic α and β casein genes were localized in the rabbit by chromosomal in situ hybridization, using a mixture of two radioactive cDNA probes corresponding to these two genes. Highly significant labeling was observed on chromosome 12. A total of 175 silver grains was found on chromosomes in the 193 mitoses studied; 18% of the grains were on chromosome 12, and 42% of the grains on this chromosome were localized to the 12q24 region. Statistical analysis revealed that this labeling was highly significant.
The structural gene for human coagulation factor X is located on chromosome 13q34
Authors: Scambler P.J. , Williamson R.
Published: May 2008

The gene coding for coagulation factor X was studied in a family segregating chromosomal abnormalities involving chromosomes 13 and 6. An individual monosomic for 13q34 was deficient in levels of clotting factors VII and X, while her brother, who is trisomic for 13q34, had elevated levels. DNA dosage studies with a cloned human factor X gene demonstrated that the low levels of factor X expression in the individual with the chromosome 13q34 deletion were due to the absence of one copy of the factor X structural gene. This confirms the assignment of the human gene coding for factor X to 13q34.
Alterations in the time of X chromosome replication induced by 5-azacytidine in a patient with 48, XXXY/47, XXY
Authors: Gregory P. , Greene C. , Shapira E. , Wang N.
Published: May 2008

It has recently been shown that 5-azacytidine (5-azaC) can induce altered replication patterns of the late-replicating X chromosome in normal female cells. This has been demonstrated by bromodeoxyuridine labelling of cells late in the S phase. In the present study the same method was applied to the lymphocytes of a Klinefelter patient (48, XXXY/47, XXY). Significant 5-azaC-induced changes in the replication of the entire inactive X chromosome, from late to early, were found in the lymphocytes of this patient. These results indicate that hypomethylating agents can not only alter the replication of individual bands, but also change the gross replication schedule of multiple inactive X chromosomes in the presence of a Y chromosome.
High-resolution chromosomal localization of the β-gene of the human β-globin gene complex by in situ hybridization
Authors: Lin C.C. , Draper P.N. , De Braekeleer M.
Published: May 2008

A 4.4-kb PstI fragment containing the entire β-gene of the human β-globin gene cluster plus both 5’- and 3’-flanking sequences was used as a probe to study the chromosomal localization of the β-gene by in situ hybridization. Using random oligonucleotides as primers, the β-gene DNA was 3H-labeled with the large fragment of DNA polymerase I (Klenow fragment) to a specific activity of 1.2 × 108 cpm/µg. Almost 80% of hybridization grains observed were located on the distal short arm of chromosome 11. High-resolution chromosome analysis suggests a more precise location of the β-gene to region 11p15.4→p15.5.
Localization of the human salivary protein complex (SPC) to chromosome band 12p13.2
Authors: Mamula P.W. , Heerema N.A. , Palmer C.G. , Lyons K.M. , Karn R.C.
Published: May 2008

In situ hybridization of a 3H-labeled probe containing a fragment from PRP-1, a genomic clone with human salivary proline-rich protein gene sequences, revealed significant labeling on the short arm of human chromosome 12 in metaphase preparations from two individuals. Fifty-three percent of metaphases exhibited labeling on one or both chromosomes 12. Additional cells scored at the 850–1,000 band level revealed a significant proportion (52% [32/61] grains, p < 0.005) of the labeled sites on chromosome 12 to be on band 12pl3.2. This probe for a human salivary proline-rich protein gene fragment, probably PMS, is from a cluster of 13 linked genes designated as the human salivary protein complex (SPC). Studies of the DNA of human-mouse somatic-cell hybrids have assigned the SPC to chromosome 12, but have not provided a regional localization (Azen et al., 1985). This paper reports the localization of the SPC to a specific chromosomal band, 12pl3.2.
Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids
Authors: Brook J.D. , Shaw D.J. , Thomas N.S.T. , Meredith A.L. , Cowell J. , Harper P.S.
Published: May 2008

A series of mouse-human somatic cell hybrid lines (WILF) were derived from a hybrid that was originally thought to have chromosome 19 as its only human chromosome. In situ hybridization has been used to assess the amount of human material present in the different lines. All appear to contain different numbers of human chromosome fragments. A series of X-chromosome-specific DNA sequences hybridized against DNA from the lines revealed that material from the X long arm is present in several cases. Chromosome 19-specific DNA sequences used in a similar way show that fragmentation of this chromosome has occurred with subsequent segregation of the fragments in different lines. The localization of these markers to various regions of chromosome 19, and their relation to the fragments observed in the WILF lines, is discussed.
Reflection analysis: a new optical method. Evidence of mitotic inter-chromosomal RNA
Authors: Lejeune J. , de Blois M.C. , Rethoré M.O. , Ravel A.
Published: May 2008

Giemsa-stained chromosomes, epi-illuminated with white light produced a brilliant image. The chromatids were yellow-green and the areas between the chromosomes contained tiny orange particles. This inter-chromosomal network was selectively removed by RNase treatment.
A twin study of structural chromosome aberrations in lymphocytes
Authors: Hedner K. , Kolnig A.-M. , Strömbeck B. , Nordén Å. , Mitelman F.
Published: May 2008

Structural chromosome aberrations were analyzed in peripheral lymphocytes of eight monozygotic (MZ) and seven dizygotic (DZ) pairs of male twins. There was no significant intrapair difference in the variance of aberration frequencies among the MZ and DZ twins. Thus, there was no evidence of a major genetic influence on the development of structural chromosome aberrations. Although a genetic component could not be excluded, it was concluded that any chromosome aberrations observed were probably due mainly to environmental influences.
Characterization of silver-stained nucleolus organizer regions (Ag-NORs) in 16 inbred strains of the Norway rat, Rattus norvegicus
Authors: Sasaki M. , Nishida C. , Kodama Y.
Published: May 2008

Silver-stained nucleolus organizer regions (Ag-NORs) in metaphase chromosomes of cultured fibroblasts were compared among 16 inbred strains of the Norway rat, Rattus norvegicus. Ag-NORs were located at the secondary constrictions or juxtacentromeric regions of the short arms of chromosomes 3, 11, and 12. The frequency and relative size of Ag-NORs were found to be strain-specific, providing a genetic marker system useful for characterization of inbred strains. While considerable cell-to-cell variation was observed within a given strain, the strain-specific pattern of Ag-NORs was shown to be consistent in cultured and noncultured cells obtained from different tissues of embryos, newborns, and adults, as well as in successively cultured cells examined up to the 10th subculture generation. The patterns of Ag-NORs in F1 hybrids made between some of the inbred strains were in general agreement with those expected from the parental strains; some unexpected patterns were noted in F1 hybrids of a particular cross, suggesting the possible existence of nucleolar interactions in such interstrain hybrids, although this has to be confirmed.
Assignment of the major histocompatibility complex to the p1.4→q1.2 region of chromosome 7 in the pig (Sus scrofa domestica L.) by in situ hybridization
Authors: Echard G. , Yerle M. , Gellin J. , Dalens M. , Gillois M.
Published: May 2008

The pig major histocompatibility complex (SLA) was mapped by in situ hybridization. The probe used was a human cDNA containing most of the coding sequence for HLA-B7. The SLA complex was localized to the region p1.4→q1.2 on chromosome 7.
Preferential X-chromosome activity in human female placental tissues
Authors: Harrison K.B. , Warburton D.
Published: May 2008

Preferential inactivation of the paternally derived X chromosome in extraembryonic membranes of female rodents has been clearly demonstrated, but the mode of X-chromosome inactivation in the human placenta has not been so clearly defined. We examined A and B variants of the X-linked enzyme glucose-6-phosphate dehydrogenase (G6PD) in 42 informative placentae to investigate whether the earliest differentiating human female embryonic cells exhibit preferential inactivation of the paternally inherited X. Contamination of villi with fetal blood was eliminated through culture of villous tissues, and maternal cell contamination was eliminated by careful dissection. Both fresh and cultured amnion and chorion, as well as cultured villi, revealed preferential maternal allele expression.
Synaptonemal complex analysis in spermatocytes and oocytes of tertiary trisomic Ts(512)31H mice with male sterility
Authors: Mahadevaiah S. , Mittwoch U.
Published: May 2008

Whole-mount preparations of silver-stained spermatocytes and oocytes from Ts(512)31H mice were examined in the electron microscope. The 512 chromosome was associated with the XY bivalent in the large majority of spermatocytes, whereas in about one-half of the oocytes, the 512 was associated with either unpaired chromosomes or heterochromatic parts of chromosomes or showed self-synapsis. There was a tendency for 512 chromosomes to be more fully heterochromatic in oocytes than in spermatocytes. A large proportion of oocytes (50%) and a much smaller proportion of spermatocytes exhibited various errors of chromosome pairing, but these proportions were only marginally greater than in control gametocytes from mice with normal karyotypes. It is concluded that the observed errors of pairing bear no simple relation to the almost complete breakdown of spermatogenesis and the marked impairment of oogenesis that occur in tertiary trisomic Ts(512)31H mice.
An improved fixation method for chromosome preparation of Chinese hamster, Chinese hamster-human hybrid, and mouse cell lines
Authors: Korthof G.
Published: May 2008

Lowering the proportion of acetic acid in the standard 1:3 acetic acid:methanol chromosome fixative used both during initial fixation and subsequent washing produced up to a 20-fold increase in the yield of intact metaphases from cultures of several permanent cell lines. Although this inhibited chromosome spreading, addition of various acetic acid-methanol mixtures immediately after the cell suspension was dropped onto slides increased the degree of spreading and resulted in well-spread, cytoplasm-free metaphases.
Different modes of action of sodium arsenite, 3-aminobenzamide, and caffeine on the enhancement of ethyl methanesulfonate clastogenicity
Authors: Jan K.Y. , Huang R.Y. , Lee T.C.
Published: May 2008

Chromosomal aberrations induced by ethyl methanesulfonate (EMS) in Chinese hamster ovary cells were potentiated by subsequent exposure to sodium arsenite (AS), 3-aminobenzamide (3AB), or caffeine (CAF). The coclastogenicity of AS was most evident when this drug was applied for 3 or 6 h immediately after EMS was removed, whereas caffeine acted primarily after 12–18 h. The coclastogenicity of 3AB was not stage dependent. AS and 3AB increased chromatid exchanges more than chromatid breaks, whereas caffeine mainly increased chromatid breaks. Thus the coclastogenicities of AS, 3AB, and CAF differ in their time of action and the types of aberrations they potentiate.
Linkage of cystic fibrosis to the proα 2(I) collagen gene, COL1A2, on chromosome 7
Authors: Buchwald M. , Zsiga M. , Markiewicz D. , Plavsic N. , Kennedy D. , Zengerling S. , Willard H.F. , Tsipouras P. , Schmiegelow K. , Schwartz M. , Eiberg H. , Mohr J. , Barker D. , Donis-Keller H. , Tsui L.-C.
Published: May 2008

A linkage has been detected between the locus for cystic fibrosis (CF) and the proα2(I) collagen gene (COL1A2) which is located in the region q21.3→q22.1 of chromosome 7. Based on the combined linkage data derived from 50 informative two-generation nuclear families collected in Canada and Denmark, the distance between COL1A2 and CF is estimated to be 19 centiMorgans. Close linkage has also been detected between COL1A2 and the DNA marker D7S15 (formerly DOCRI-917) and the serum enzyme activity marker paraoxonase (PON), both of which have previously been found linked to CF. The results of the two-point and three-point linkage analyses indicate that the most probable order of these four genetic loci is COL1A2 – D7S15 PON – CF.
Evidence from somatic cells for crossing-over in humans
Authors: Sparkes R.S. , Sparkes M.C. , Bass H.N.
Published: May 2008

Chromosomal and gene marker studies of somatic cells in a family with multiple chromosome translocations show apparent instability of the translocations in transmission from generation to generation. This instability is attributed to meiotic crossing-over between the involved chromosomes. Technical advances in chromosome analysis combined with human gene map information in the study of this unusual family demonstrate for the first time that crossing-over involves exchange of chromatin between nonsister chromatids of homologous chromosomes.
New gene assignments and syntenic groups in the baboon (Papio papio)
Authors: Thiessen K.M. , Lalley P.A.
Published: May 2008

MDH2, SOD2, PEPS, and ITPA were assigned to Papio papio chromosomes 3, 4, 5, and 10, respectively, by their concordant segregation with previously assigned gene markers in a set of baboon × mouse somatic cell hybrids. The linkage of NP, IDH2, SORD, MP1, and PKM2 was confirmed, and three other independently segregating markers (MDH1, ACY1, and PEPB) were identified. Syntenic groups described in the baboon are compared to those found in man and in the rhesus monkey.
Tissue-type plasminogen activator gene is on chromosome 8
Authors: Tripputi P. , Blasi F. , Ny T. , Emanuel B.S. , Letosfsky J. , Croce C.M.
Published: May 2008

Tissue plasminogen activator is one of the two plasminogen activators, both serine proteases, that catalyze the conversion of inactive plasminogen to plasmin, which then degrades the fibrin network of blood clots. By combining somatic cell genetics, in situ hybridization, and Southern blot hybridization, we localized the human tissue plasminogen activator gene to the pericentromeric region of chromosome 8.
Localization of the human tyrosine hydroxylase gene to 11p15: gene duplication and evolution of metabolic pathways
Authors: Craig S.P. , Buckle V.J. , Lamouroux A. , Mallet J. , Craig I.
Published: May 2008

Phenylalanine hydroxylase (PAH) and tyrosine hydroxylase (TH) are consecutive enzymes in the metabolic pathway leading to the production of catecholamine neurotransmitters. A comparison of recently available sequence data of these enzymes in the rat indicates about 70% homology in the 3’ coding regions. We have localized TH by in situ hybridization to human chromosome region 11p15. Consideration of this assignment and that of PAH to chromosome 12, together with the known distribution of other pairs of related genes on these two chromosomes, provides convincing evidence of their ancestral relationship and suggests a role for gene duplication in the diversification of metabolic pathways in the vertebrate ancestors of mammals.
Analysis of translocations observed in three different populations
Authors: Schwartz S. , Palmer C.G. , Yu P.-L. , Boughman J.A. , Cohen M.M.
Published: May 2008

A sample of 229 Robertsonian translocations was classified into three groups according to the method of their ascertainment (Group I = couples with repeated abortions; Group II = karyotypically unbalanced probands; Group III = balanced translocation heterozygotes). Statistical analysis showed that the distributions of Robertsonian translocations differed significantly from random in all three groups. Additionally, the distributions were significantly different between couples with repeated abortions and karyotypically unbalanced probands and between unbalanced probands and balanced translocation heterozygotes.
Regional assignment of the polymorphic probe D3S3 to 3p14 by molecular hybridization
Authors: Gerber M.J. , Miller Y.E. , Drabkin H.A. , Scoggin C.H.
Published: May 2008

The polymorphic DNA probe D3S3 was assigned to 3pl4 by molecular hybridization using a human chromosome 3/hamster somatic cell hybrid deletion panel. This is the first regional assignment of a polymorphic probe to the short arm of chromosome 3. This probe appears to be proximal to the chromosome 3 fragile site and, therefore, may prove useful in characterizing the 3p chromosomal aberrations that occur in various malignant diseases.
Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28: implications for factor VIII gene segregation analysis
Authors: Tantravahi U. , Murty V.V.V.S. , Jhanwar S.C. , Woozney J.M. , Toole J.J. , Chaganti R.S.K. , Latt S.A.
Published: May 2008

Genomic DNA segments for the coagulation factor VIIIc gene (F8C), which exhibits only limited restriction length polymorphism, map to the proximal region of band Xq28 by somatic cell hybridization analysis and in situ hybridization. Using somatic cell hybrids, we have obtained data which place probes DX13 (used to detect locus DXS15) and Stl4 (used to detect DXS52) distal to F8C, within band Xq28. Previous studies have mapped the factor IX gene (F9) and probe 52A (used to detect DXS51) proximal to F8C, in Xq26→q27 and Xq27, respectively (Camerino et al., 1984; Drayna et al, 1984; Mattei et al., 1985). Thus, the relative order of genetic marker loci in the Xq27→qter region is most likely cen-F9-DXS51-F8C-(DXS15, DXS52)-Xqter* The collection of these molecular probes is thus potentially useful in three-factor crosses of factor VIII gene segregation.
Gene mapping in marsupials and monotremes
Authors: Dawson G.W. , Graves Marshall
Published: May 2008

Biochemical and cytological studies of hybrids between HPRT-deficient rodent cells and lymphocytes or fibroblasts from Macropus robustus (the euro, M. r. erubescens, or the wallaroo, M. r. robustus, or hybrid animals) permitted assignment of Hpt, Pgk, and Gpd to the X chromosome of the euro and of Hpt, Pgk, Gpd, and Gla to the X chromosome of the wallaroo. Because of the rapid and extensive segregation of marsupial chromosomes from hybrids and the frequent fragmentation of retained chromosomes, these assignments were confirmed using extensive subclone and reversion analyses. The patterns of marker segregation in hybrids with deleted X chromosomes suggested a gene order of Gpd-Hpt-Pgk on the long arm of the euro X, and centromere-Gpd-Hpt-Gla-Pgk on the long arm of the wallaroo X. Marsupial STS was not detected, even in hybrids retaining an intact M. robustus X, suggesting that Sts is not borne on the X in marsupials.