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22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

https://arctichealth.org/en/permalink/ahliterature146325
Source
Eur J Med Genet. 2010 Mar-Apr;53(2):61-5
Publication Type
Article
Author
Johanna Lundin
Cilla Söderhäll
Lina Lundén
Anna Hammarsjö
Iréne White
Jacqueline Schoumans
Göran Läckgren
Christina Clementson Kockum
Agneta Nordenskjöld
Author Affiliation
Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden.
Source
Eur J Med Genet. 2010 Mar-Apr;53(2):61-5
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Bladder Exstrophy - genetics
Chromosomes - ultrastructure
Chromosomes, Human, Pair 22
Comparative Genomic Hybridization
Female
Gene Duplication
Hearing Loss - genetics
Humans
In Situ Hybridization, Fluorescence
Male
Molecular Probe Techniques
Phenotype
Sweden
Syndrome
Abstract
Bladder exstrophy is a congenital malformation of the bladder and urethra. The genetic basis of this malformation is unknown however it is well known that chromosomal aberrations can lead to defects in organ development. A few bladder exstrophy patients have been described to carry chromosomal aberrations. Chromosomal rearrangements of 22q11.2 are implicated in several genomic disorders i.e. DiGeorge/velocardiofacial- and cat-eye syndrome. Deletions within this chromosomal region are relatively common while duplications of 22q11.2 are much less frequently observed. An increasing number of reports of microduplications of this region describe a highly variable phenotype. We have performed array-CGH analysis of 36 Swedish bladder exstrophy patients. The analysis revealed a similar and approximately 3 Mb duplication, consistent with the recently described 22q11.2 microduplication syndrome, in two unrelated cases with bladder exstrophy and hearing impairment. This finding was confirmed by multiplex ligation-dependent probe amplification (MLPA) and FISH analysis. Subsequent MLPA analysis of this chromosomal region in 33 bladder exstrophy patients did not reveal any deletion/duplication within this region. MLPA analysis of 171 anonymous control individuals revealed one individual carrying this microduplication. This is the first report of 22q11.2 microduplication associated with bladder exstrophy and hearing impairment. Furthermore the finding of one carrier among a cohort of normal controls further highlights the variable phenotype linked to this microduplication syndrome.
PubMed ID
20045748 View in PubMed
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Aberrant expression of the human epidermal growth factor receptor 2 oncogene is not a common feature in osteosarcoma.

https://arctichealth.org/en/permalink/ahliterature101871
Source
Hum Pathol. 2011 Jun;42(6):859-66
Publication Type
Article
Date
Jun-2011
Author
Daniel Baumhoer
Jan Smida
Katja Specht
Karin Bink
Leticia Quintanilla-Martinez
Michael Rosemann
Heide Siggelkow
Walter B J Nathrath
Michael J Atkinson
Stefan Bielack
Gernot Jundt
Michaela Nathrath
Author Affiliation
Institute of Pathology, University Hospital Basel, 4031 Basel, Switzerland. dbaumhoer@mac.com
Source
Hum Pathol. 2011 Jun;42(6):859-66
Date
Jun-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Bone Neoplasms - genetics - metabolism - pathology
Child
Child, Preschool
DNA, Neoplasm - analysis
Female
Gene Expression Regulation, Neoplastic - physiology
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Male
Middle Aged
Oligonucleotide Array Sequence Analysis
Osteosarcoma - genetics - metabolism - pathology
Polymorphism, Single Nucleotide
Prognosis
RNA, Messenger - metabolism
Receptor, erbB-2 - genetics - metabolism
Reverse Transcriptase Polymerase Chain Reaction
Tumor Markers, Biological - genetics - metabolism
Young Adult
Abstract
Human epidermal growth factor receptor 2 expression in osteosarcoma and its relationship to prognosis have been the subject of several conflicting reports, most of them relying on immunohistochemical studies. Because the urgent need of prognostic markers and effective new treatment options for osteosarcoma patients, we evaluated the role of human epidermal growth factor receptor 2 in 2 well-characterized sets of pretherapeutic osteosarcoma samples (46 paraffin-embedded and 46 fresh-frozen biopsy samples) using immunohistochemistry with 2 different antibodies [DAKO A0485 (Glostrup, Denmark) and Novocastra CB11 (Newcastle, UK)] as well as fluorescence in situ hybridization, real-time polymerase chain reaction, and SNP array analyses and correlated our findings with clinicopathological parameters. However, our study failed to detect unequivocal evidence of human epidermal growth factor receptor 2 gene amplification or overexpression of human epidermal growth factor receptor 2 messenger RNA or protein in any of the investigated tumors. Only in a small subset of samples, a moderate increase in messenger RNA levels (13.6%) or focal membranous immunoreactivity (8.7%; A0485) was detected but did not correlate with survival or response to chemotherapy. Cytoplasmic staining was identified more frequently (63%; CB11) but again did not show any association with clinicopathological parameters. In conclusion, our study does not support a role for human epidermal growth factor receptor 2 as a prognostic marker in osteosarcoma.
PubMed ID
21292304 View in PubMed
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[Abundance and diversity of methanotrophic Gammaproteobacteria in northern wetlands].

https://arctichealth.org/en/permalink/ahliterature259581
Source
Mikrobiologiia. 2014 Mar-Apr;83(2):204-14
Publication Type
Article
Author
O V Danilova
S N Dedysh
Source
Mikrobiologiia. 2014 Mar-Apr;83(2):204-14
Language
Russian
Publication Type
Article
Keywords
Biodiversity
Fresh Water - microbiology
Gammaproteobacteria - genetics - isolation & purification - metabolism
Hydrogen-Ion Concentration
In Situ Hybridization, Fluorescence
Methane - metabolism
Methylococcaceae - genetics
Methylocystaceae - genetics
Molecular Sequence Data
Oxygenases - genetics
Phylogeny
RNA, Ribosomal, 16S
Russia
Wetlands
Abstract
Numeric abundance, identity and pH preferences of methanotrophic Gammaproteobacteria (type I methanotrophs) inhabiting the northern acidic wetlands were studied. The rates of methane oxidation by peat samples from six-wetlands of European Northern Russia (pH 3.9-4.7) varied from 0.04 to 0.60 µg CH4 g(-1) peat h(-1). The number of cells revealed by hybridization with fluorochrome-labeled probes M84 + M705 specific for type I methanotrophs was 0.05-2.16 x 10(5) cells g(-1) dry peat, i.e. 0.4-12.5% of the total number of methanotrophs and 0.004-0.39% of the total number of bacteria. Analysis of the fragments of the pmoA gene encoding particulate methane monooxygenase revealed predominance of the genus Methylocystis (92% of the clones) in the studied sample of acidic peat, while the proportion of the pmoA sequences of type I methanotrophs was insignificant (8%). PCR amplification of the 16S rRNA gene fragments of type I methanotrophs with TypeIF-Type IR primers had low specificity, since only three sequences out of 53 analyzed belonged to methanotrophs and exhibited 93-99% similarity to those of Methylovulum, Methylomonas, and Methylobacter species. Isolates of type I methanotrophs obtained from peat (strains SH10 and 83A5) were identified as members of the species Methylomonaspaludis and Methylovulum miyakonense, respectively. Only Methylomonaspaludum SH10 was capable of growth in acidic media (pH range for growth 3.8-7.2 with the optimum at pH 5.8-6.2), while Methylovulum miyakonense 83A5 exhibited the typical growth characteristics of neutrophilic methanotrophs (pH range for growth 5.5-8.0 with the optimum at pH 6.5-7.5).
PubMed ID
25423724 View in PubMed
Less detail

Abundant Trimethylornithine Lipids and Specific Gene Sequences Are Indicative of Planctomycete Importance at the Oxic/Anoxic Interface in Sphagnum-Dominated Northern Wetlands.

https://arctichealth.org/en/permalink/ahliterature273730
Source
Appl Environ Microbiol. 2015 Sep;81(18):6333-44
Publication Type
Article
Date
Sep-2015
Author
Eli K Moore
Laura Villanueva
Ellen C Hopmans
W Irene C Rijpstra
Anchelique Mets
Svetlana N Dedysh
Jaap S Sinninghe Damsté
Source
Appl Environ Microbiol. 2015 Sep;81(18):6333-44
Date
Sep-2015
Language
English
Publication Type
Article
Keywords
Acidobacteria - chemistry - isolation & purification
Bacteria - chemistry - genetics - isolation & purification
High-Throughput Nucleotide Sequencing
In Situ Hybridization, Fluorescence
Lipids - analysis - chemistry
Oxidation-Reduction
Phylogeny
RNA, Bacterial - genetics
RNA, Ribosomal, 16S - genetics
Russia
Soil - chemistry
Soil Microbiology
Sphagnopsida - chemistry - genetics - microbiology
Sweden
Wetlands
Abstract
Northern wetlands make up a substantial terrestrial carbon sink and are often dominated by decay-resistant Sphagnum mosses. Recent studies have shown that planctomycetes appear to be involved in degradation of Sphagnum-derived debris. Novel trimethylornithine (TMO) lipids have recently been characterized as abundant lipids in various Sphagnum wetland planctomycete isolates, but their occurrence in the environment has not yet been confirmed. We applied a combined intact polar lipid (IPL) and molecular analysis of peat cores collected from two northern wetlands (Saxnäs Mosse [Sweden] and Obukhovskoye [Russia]) in order to investigate the preferred niche and abundance of TMO-producing planctomycetes. TMOs were present throughout the profiles of Sphagnum bogs, but their concentration peaked at the oxic/anoxic interface, which coincided with a maximum abundance of planctomycete-specific 16S rRNA gene sequences. The sequences detected at the oxic/anoxic interface were affiliated with the Isosphaera group, while sequences present in the anoxic peat layers were related to an uncultured planctomycete group. Pyrosequencing-based analysis identified Planctomycetes as the major bacterial group at the oxic/anoxic interface at the Obukhovskoye peat (54% of total 16S rRNA gene sequence reads), followed by Acidobacteria (19% reads), while in the Saxnäs Mosse peat, Acidobacteria were dominant (46%), and Planctomycetes contributed to 6% of the total reads. The detection of abundant TMO lipids in planctomycetes isolated from peat bogs and the lack of TMO production by cultures of acidobacteria suggest that planctomycetes are the producers of TMOs in peat bogs. The higher accumulation of TMOs at the oxic/anoxic interface and the change in the planctomycete community with depth suggest that these IPLs could be synthesized as a response to changing redox conditions at the oxic/anoxic interface.
Notes
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PubMed ID
26150465 View in PubMed
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[Age dymamics of stable chromosome aberration frequency in humans with natural and pathological senescence]

https://arctichealth.org/en/permalink/ahliterature29866
Source
Tsitologiia. 2004;46(12):1030-4
Publication Type
Article
Date
2004
Author
I E Vorobtsova
A Iu Kanaeva
I A Petrova
A V Semenov
N M Pleskach
I M Spivak
G A Timonina
V V Prokof'eva
N M Iartseva
V M Mikhel'son
Source
Tsitologiia. 2004;46(12):1030-4
Date
2004
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Aging - blood - genetics
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 1 - genetics
Chromosomes, Human, Pair 12 - genetics
Chromosomes, Human, Pair 4 - genetics
Chromosomes, Human, Pair 8 - genetics
Comparative Study
English Abstract
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Leukocytes, Mononuclear - radiation effects
Middle Aged
Progeria - blood - genetics
Ukraine
Werner Syndrome - blood - genetics
Abstract
The age dynamics of stable chromosome aberration (SCA) frequency was analysed by fluorescent in situ hybridization (FISH) in human blood lymphocytes derived from donors, irradiated by low doses of ionizing radiation (Chernobyl clean-up workers, nuclear weapon testers, etc.) and patients with hereditary premature aging--Werner's syndrome and Hutchinson-Gilford's syndrome. It was found that the level of SCA was age-dependent and increased in irradiated persons. So, the SCA level may be really an index of a so-called "radiation senescence", and may show a real biological age of irradiated persons. The patients with Werner's syndrome demonstrate increased SCA level in blood lymphocytes, corresponding to the premature aging of the organisms. But in the case of another form of premature aging--Hutchinson--Gilford's syndrome-- no rise of SCA level was found. Some possible reasons of such results are discussed.
PubMed ID
15747832 View in PubMed
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Age-related telomere shortening occurs in lens epithelium from old rats and is slowed by caloric restriction.

https://arctichealth.org/en/permalink/ahliterature50817
Source
Exp Eye Res. 2001 Aug;73(2):221-8
Publication Type
Article
Date
Aug-2001
Author
W R Pendergrass
P E Penn
J. Li
N S Wolf
Author Affiliation
Department of Pathology, University of Washington, Seattle, Washington 98195, USA.
Source
Exp Eye Res. 2001 Aug;73(2):221-8
Date
Aug-2001
Language
English
Publication Type
Article
Keywords
Aging - physiology
Animals
Cataract - etiology
Cells, Cultured
Diet, Reducing
Epithelial Cells - cytology
Fibroblasts - ultrastructure
Humans
In Situ Hybridization, Fluorescence
Interphase - physiology
Lens, Crystalline - cytology
Metaphase - physiology
Nucleic Acid Probes
Rats
Reference Values
Reproducibility of Results
Research Support, U.S. Gov't, P.H.S.
Sensitivity and specificity
Statistics, nonparametric
Telomere - ultrastructure
Abstract
We have investigated whether the average relative telomere length of lens epithelial cells (LECs) from brown Norway rats decreases with the age of the donor animal, and whether chronic caloric restriction (CR) of the rats delays the telomere shortening. Our previous studies have demonstrated that clonal proliferative potential of rodent LECs as well as the in vivo rate of DNA synthesis decreases with age and that this decrease is slowed by chronic lifelong caloric restriction (CR). In order to determine if telomeric shortening might be involved in this loss of proliferative potential, we examined relative telomeric lengths in young, old ad lib fed (AL), and old calorically restricted (CR) brown Norway rats. We used fluorescence in situ hybridization with a peptide nucleic acid probe (PNA) complementary to the telomeric repeat sequence to quantitate relative telomere lengths in LECs in lens sections (TELO-FISH). Control experiments demonstrated that the PNA probe binding was restricted almost entirely to the terminal portions of the rat chromosomes with less than 5% bound at interstitial sites in typical metaphase spreads. The relative telomere lengths of interphase human fibroblast standards, as determined by TELO-FISH, were in good agreement with terminal restriction fragment analyses of the same standards and with literature values for rat cells. The average telomere lengths of interphase nuclei in the old AL rat LECs were found to be 21% shorter than paired young AL controls (P
PubMed ID
11446772 View in PubMed
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Allogeneic haematopoietic stem cell transplantation for chronic lymphocytic leukaemia: outcome in a 20-year cohort.

https://arctichealth.org/en/permalink/ahliterature124004
Source
Br J Haematol. 2012 Jul;158(2):174-85
Publication Type
Article
Date
Jul-2012
Author
Cynthia L Toze
Chinmay B Dalal
Thomas J Nevill
Tanya L Gillan
Yasser R Abou Mourad
Michael J Barnett
Raewyn C Broady
Donna L Forrest
Donna E Hogge
Stephen H Nantel
Maryse M Power
Kevin W Song
Heather J Sutherland
Clayton A Smith
Sujaatha Narayanan
Sean S Young
Joseph M Connors
John D Shepherd
Author Affiliation
Division of Hematology, Leukemia/BMT Program of British Columbia, Vancouver General Hospital, BC Cancer Agency, University of British Columbia, Vancouver, BC, Canada. ctoze@bccancer.bc.ca
Source
Br J Haematol. 2012 Jul;158(2):174-85
Date
Jul-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
British Columbia - epidemiology
Cohort Studies
Comorbidity
Disease Progression
Female
Graft Survival
Graft vs Host Disease - etiology
Hematopoietic Stem Cell Transplantation - methods
Humans
In Situ Hybridization, Fluorescence
Kaplan-Meier Estimate
Leukemia, Lymphocytic, Chronic, B-Cell - mortality - therapy
Male
Middle Aged
Prognosis
Remission Induction
Transplantation Chimera
Transplantation Conditioning - methods
Treatment Outcome
Abstract
The curative potential of allogeneic haematopoietic stem cell transplant (allo HSCT) in chronic lymphocytic leukaemia CLL is established, with a demonstrated role for graft-versus-leukaemia and less certainty for other factors in determining outcome. The first two decades of CLL patients proceeding to allo HSCT at the Leukaemia/Bone Marrow Transplant Program of British Columbia (n = 49 consecutive, 1991-2009) were studied to clarify factors predicting outcome. The donor was related in 29 (59%) and unrelated in 20 (41%). Conditioning was reduced-intensity in 27 (55%) and myeloablative in 22 (45%). Thirty-one of 49 patients survive with median follow-up of 5 years (0·2-15). Cumulative incidence of non-relapse mortality; complete remission (CR); clearance of fluorescence in situ hybridization (FISH) abnormality and progression at 10 years was 36%; 69%; 55% and 22%. Overall survival (OS) was 63% at 2 years; 55% at 5 years and beyond. Factors predicting OS (P value by log rank 90%, clearance of FISH abnormality post-HSCT and absence of high-grade (3-4) graft-versus-host disease. Results from this province-wide, two-decade cohort demonstrated that a substantial proportion of patients with high-risk CLL become long term disease-free survivors.
PubMed ID
22640008 View in PubMed
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Alveolar Soft Part Sarcoma of the Female Genital Tract: A Morphologic, Immunohistochemical, and Molecular Cytogenetic Study of 10 Cases With Emphasis on its Distinction From Morphologic Mimics.

https://arctichealth.org/en/permalink/ahliterature282057
Source
Am J Surg Pathol. 2017 May;41(5):622-632
Publication Type
Article
Date
May-2017
Author
J Kenneth Schoolmeester
Joseph Carlson
Gary L Keeney
Karen J Fritchie
Esther Oliva
Robert H Young
Marisa R Nucci
Source
Am J Surg Pathol. 2017 May;41(5):622-632
Date
May-2017
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - analysis - genetics
Biomarkers, Tumor - analysis - genetics
Biopsy
Boston
Diagnosis, Differential
Female
Gene Fusion
Gene Rearrangement
Genital Neoplasms, Female - chemistry - diagnosis - genetics - pathology
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Middle Aged
Molecular Diagnostic Techniques
Oncogene Proteins, Fusion - genetics
Perivascular Epithelioid Cell Neoplasms - chemistry - diagnosis - genetics - pathology
Predictive value of tests
Prognosis
Sarcoma, Alveolar Soft Part - chemistry - diagnosis - genetics - pathology
Sweden
Young Adult
Abstract
Alveolar soft part sarcoma (ASPS) is a morphologically distinctive neoplasm of unknown differentiation that bears a characteristic gene fusion involving ASPSCR1 and TFE3. ASPS can occur in the female genital tract, but is rare. Eleven cases with an initial diagnosis of ASPS at female genital tract sites were evaluated for their morphologic features and immunoprofile using a panel of antibodies (TFE3, HMB45, melan-A, smooth muscle actin, desmin, and h-Caldesmon). In addition, the presence of TFE3 rearrangement and subsequent ASPSCR1-TFE3 fusion were determined by fluorescence in situ hybridization. Ten tumors retained their classification as ASPS based on their morphologic appearance, immunohistochemical profile, and demonstration of ASPSCR1-TFE3 fusion. The remaining case was reclassified as conventional-type PEComa due to its pattern of HMB45, melan-A, and desmin positivity as well as absence of TFE3 rearrangement. Sites of the 10 ASPS were uterine corpus (3), cervix (2), uterus not further specified (2), vagina (2), and vulva (1). The age of the patients ranged from 15 to 68 years (mean 34 y, median 32 y). The tumors demonstrated a spectrum of morphologic features, but all had a consistent immunophenotype of strong TFE3 nuclear expression and lack of muscle (smooth muscle actin, desmin, h-Caldesmon) and melanocytic (melan-A, HMB45) markers, except focal positivity for HMB45 in 1. Follow-up was available for 4 patients ranging from 1 to 35 months (mean 15 mo, median 25 mo) and they were alive and had no evidence of recurrence or metastasis at last follow-up. Distinguishing ASPS from its morphologic mimics, particularly PEComa, is important due to increasingly efficacious targeted agents such as MET-selective and VEGF signaling inhibitors in the former and mTOR inhibition therapy in the latter.
PubMed ID
28009610 View in PubMed
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Amplification studies of MET and Cdk6 in a rat endometrial tumor model and their correlation to human type I endometrial carcinoma tumors.

https://arctichealth.org/en/permalink/ahliterature85888
Source
Adv Exp Med Biol. 2008;617:511-7
Publication Type
Article
Date
2008
Author
Samuelson Emma
Nordlander Carola
Levan Göran
Behboudi Afrouz
Author Affiliation
Göteborg University Sahlgrenska Academy, Department of Clinical Genetics, Göteborg, Sweden.
Source
Adv Exp Med Biol. 2008;617:511-7
Date
2008
Language
English
Publication Type
Article
Keywords
Adenocarcinoma - genetics - metabolism - secondary
Animals
Carcinoma, Squamous Cell - genetics - metabolism - secondary
Chromosome Aberrations
Chromosomes, Human, Pair 7 - genetics
Cyclin-Dependent Kinase 6 - genetics
Disease Models, Animal
Endometrial Neoplasms - genetics - metabolism - pathology
Female
Gene Amplification
Humans
In Situ Hybridization, Fluorescence
Peritoneal Neoplasms - genetics - metabolism - secondary
Proto-Oncogene Proteins c-met - genetics
Rats
Rats, Inbred BN
Abstract
Cancer is known to be a genetic disease that is both polygenic and heterogeneous, in most cases involving changes in several genes in a stepwise fashion. The spectrum of individual genes involved in the initiation and progression of cancer is greatly influenced by genetic factors unique to each patient. A study of complex diseases such as cancer is complicated by the genetic heterogeneous background and environmental factors in the human population. Endometrial cancer (EC) is ranked fourth among invasive tumors in women. In Sweden, approximately 1300 women (27/100,000 women) are diagnosed annually. To be able to study the genetic alterations in cancer, the use of an animal model is very convenient. Females of the BDII strain are genetically predisposed to EC and 90% of female BDII rats develop EC during their lifetime. Thus, BDII rats have been used to model human EC with respect to the genetics of susceptibility and of tumor development. A set of rat EC tumors was analyzed using conventional cytogenetics and comparative genome hybridization (CGH). Chromosomal aberrations, i.e., gains, were found on rat chromosome 4 (RNO4). Using FISH analysis, we concluded that the Met oncogene and Cdk6 (cyclin-dependent kinase 6) were amplified in this set of EC tumors. The data from this investigation were used to analyze a set of human endometrial tumors for amplification of Cdk6 and Met. Our preliminary data are indicative for a good correlation between our findings in the BDII rat model for EAC and the situation in human EC. These data provide strong support for the use of animal model systems for better understanding and scrutinizing of human complex disease of cancer.
PubMed ID
18497076 View in PubMed
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Analysis of aneuploidy frequencies in sperm from patients with hereditary nonpolyposis colon cancer and an hMSH2 mutation.

https://arctichealth.org/en/permalink/ahliterature199220
Source
Am J Hum Genet. 2000 Mar;66(3):1149-52
Publication Type
Article
Date
Mar-2000
Author
R H Martin
J. Green
E. Ko
L. Barclay
A W Rademaker
Author Affiliation
Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB Canada T2T 5C7. rhmartin@ucalgary.ca
Source
Am J Hum Genet. 2000 Mar;66(3):1149-52
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Adult
Aneuploidy
Base Pair Mismatch - genetics
Chromosome Segregation - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Repair - genetics
DNA-Binding Proteins
Diploidy
Exons - genetics
Gene Frequency - genetics
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Male
Meiosis - genetics
Middle Aged
MutS Homolog 2 Protein
Mutation - genetics
Newfoundland and Labrador
Proto-Oncogene Proteins - genetics
Sex Chromosomes - genetics
Spermatozoa - metabolism
Abstract
Hereditary nonpolyposis colon cancer (HNPCC) has been shown to be caused by mutations in the mismatch repair genes hMSH2, hMLH1, hPMS1, and hPMS2. Recent evidence has demonstrated that mutations in mismatch repair genes disrupt meiosis in mice. A large HNPCC kindred in Newfoundland, Canada, has an hMSH2 mutation-an A-->T transversion at the +3 position of the splice-donor site of exon 5. We have studied sperm from men with this hMSH2 mutation, since it is possible that mismatch repair mutations in humans might also have an effect on meiosis and normal segregation of chromosomes. The frequencies of aneuploid and diploid sperm were determined in 10 men with the hMSH2 mutation, by use of multicolor FISH analysis for chromosomes 13, 21, X, and Y. A minimum of 10,000 sperm per man was studied per chromosome probe. Control individuals consisted of men in the same kindred with HNPCC who did not carry the mutation and of other normal men from Newfoundland. A total of 321,663 sperm were analyzed: 200,905 sperm were from men carrying the hMSH2 mutation and 120,758 sperm were from control men. There was a significantly increased frequency of disomy 13, disomy 21, XX, and diploidy in mutation carriers compared with control men. These results suggest that the hMSH2 mutation may affect meiosis in humans.
Notes
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