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The accident at Chernobyl and trisomy 21 in Finland.

https://arctichealth.org/en/permalink/ahliterature36798
Source
Mutat Res. 1992 Mar;275(2):81-6
Publication Type
Article
Date
Mar-1992
Author
T. Harjulehto-Mervaala
R. Salonen
T. Aro
L. Saxén
Author Affiliation
Department of Pathology, University of Helsinki, Finland.
Source
Mutat Res. 1992 Mar;275(2):81-6
Date
Mar-1992
Language
English
Publication Type
Article
Keywords
Accidents
Cesium Radioisotopes - adverse effects
Chromosomes, Human, Pair 21 - radiation effects
Cohort Studies
Down Syndrome - epidemiology - etiology
Female
Finland - epidemiology
Humans
Infant, Newborn
Matched-Pair Analysis
Maternal Age
Nuclear Reactors
Power Plants
Pregnancy
Pregnancy, High-Risk
Prenatal Exposure Delayed Effects
Prevalence
Radioactive Fallout - adverse effects
Trisomy
Ukraine
Abstract
Our objective was to explore whether the radiation fallout in Finland after the accident at the Chernobyl nuclear power plant in April 1986 led to an increased incidence of trisomy 21. In this geographic and temporal cohort study, the country was divided into three zones according to the amounts of radioactive fallout and internal radiation caused by two cesium isotopes. The 518 cytologically verified cases of trisomy 21 were divided into a control group (conceived before the accident), and a study group of children whose expected dates of birth were in the post-accident years 1987-1988, i.e., pregnancies commenced after May 1986. The cases were also divided into three subgroups according to the zones of radiation. There were no significant differences in prevalence of trisomy 21 between the control and study groups nor between the three zones in spite of the significant differences in the levels of radiation and in the body burden that prevailed throughout the study period. Power estimates showed that in the two zones of lower radiation, an increase of 0.5% in the prevalence would have been detected with a power of 0.85, and in the somewhat smaller zone of the highest radiation, with a power of 0.70. The study lends no further support to the view that the low radiation fallout in western Europe would have been causally associated with trisomy 21.
PubMed ID
1379341 View in PubMed
Less detail

Age-dependent recombination rates in human pedigrees.

https://arctichealth.org/en/permalink/ahliterature131367
Source
PLoS Genet. 2011 Sep;7(9):e1002251
Publication Type
Article
Date
Sep-2011
Author
Julie Hussin
Marie-Hélène Roy-Gagnon
Roxanne Gendron
Gregor Andelfinger
Philip Awadalla
Author Affiliation
Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal, Canada.
Source
PLoS Genet. 2011 Sep;7(9):e1002251
Date
Sep-2011
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aneuploidy
Canada
Centromere - genetics
Chromosome Mapping
Chromosomes, Human, Pair 21 - genetics
Female
Genome, Human
Genotype
Humans
Maternal Age
Meiosis
Middle Aged
Nondisjunction, Genetic
Pedigree
Recombination, Genetic
Trisomy - genetics
Abstract
In humans, chromosome-number abnormalities have been associated with altered recombination and increased maternal age. Therefore, age-related effects on recombination are of major importance, especially in relation to the mechanisms involved in human trisomies. Here, we examine the relationship between maternal age and recombination rate in humans. We localized crossovers at high resolution by using over 600,000 markers genotyped in a panel of 69 French-Canadian pedigrees, revealing recombination events in 195 maternal meioses. Overall, we observed the general patterns of variation in fine-scale recombination rates previously reported in humans. However, we make the first observation of a significant decrease in recombination rates with advancing maternal age in humans, likely driven by chromosome-specific effects. The effect appears to be localized in the middle section of chromosomal arms and near subtelomeric regions. We postulate that, for some chromosomes, protection against non-disjunction provided by recombination becomes less efficient with advancing maternal age, which can be partly responsible for the higher rates of aneuploidy in older women. We propose a model that reconciles our findings with reported associations between maternal age and recombination in cases of trisomies.
Notes
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PubMed ID
21912527 View in PubMed
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Amyloid precursor protein gene mutation at codon 670/671 in familial Alzheimer's disease in Sweden.

https://arctichealth.org/en/permalink/ahliterature218886
Source
Biochem Soc Trans. 1994 Feb;22(1):176-9
Publication Type
Article
Date
Feb-1994

Ancient gene flow from early modern humans into Eastern Neanderthals.

https://arctichealth.org/en/permalink/ahliterature270960
Source
Nature. 2016 Feb 25;530(7591):429-33
Publication Type
Article
Date
Feb-25-2016
Author
Martin Kuhlwilm
Ilan Gronau
Melissa J Hubisz
Cesare de Filippo
Javier Prado-Martinez
Martin Kircher
Qiaomei Fu
Hernán A Burbano
Carles Lalueza-Fox
Marco de la Rasilla
Antonio Rosas
Pavao Rudan
Dejana Brajkovic
Željko Kucan
Ivan Gušic
Tomas Marques-Bonet
Aida M Andrés
Bence Viola
Svante Pääbo
Matthias Meyer
Adam Siepel
Sergi Castellano
Source
Nature. 2016 Feb 25;530(7591):429-33
Date
Feb-25-2016
Language
English
Publication Type
Article
Keywords
Altitude
Animals
Bayes Theorem
Chromosomes, Human, Pair 21 - genetics
Croatia - ethnology
Gene Flow - genetics
Genome, Human - genetics
Genomics
Haplotypes - genetics
Heterozygote
Humans
Hybridization, Genetic - genetics
Neanderthals - genetics
Phylogeny
Population Density
Siberia
Spain - ethnology
Time Factors
Abstract
It has been shown that Neanderthals contributed genetically to modern humans outside Africa 47,000-65,000 years ago. Here we analyse the genomes of a Neanderthal and a Denisovan from the Altai Mountains in Siberia together with the sequences of chromosome 21 of two Neanderthals from Spain and Croatia. We find that a population that diverged early from other modern humans in Africa contributed genetically to the ancestors of Neanderthals from the Altai Mountains roughly 100,000 years ago. By contrast, we do not detect such a genetic contribution in the Denisovan or the two European Neanderthals. We conclude that in addition to later interbreeding events, the ancestors of Neanderthals from the Altai Mountains and early modern humans met and interbred, possibly in the Near East, many thousands of years earlier than previously thought.
PubMed ID
26886800 View in PubMed
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APS-I/APECED: the clinical disease and therapy.

https://arctichealth.org/en/permalink/ahliterature189516
Source
Endocrinol Metab Clin North Am. 2002 Jun;31(2):295-320, vi
Publication Type
Article
Date
Jun-2002
Author
Jaakko Perheentupa
Author Affiliation
Hospital for Children and Adolescents, University of Helsinki, PO Box 281, Fin-00029 HYKS, Helsinki, Finland. jaakko.perheentupa@saunalahti.fi
Source
Endocrinol Metab Clin North Am. 2002 Jun;31(2):295-320, vi
Date
Jun-2002
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Candidiasis, Chronic Mucocutaneous - diagnosis - genetics - therapy
Child
Chromosomes, Human, Pair 21
Female
Finland
Humans
Immunosuppressive Agents - therapeutic use
Male
Middle Aged
Mouth Diseases - microbiology
Mutation
Polyendocrinopathies, Autoimmune - complications - diagnosis - genetics - therapy
Prognosis
Abstract
The clinical picture and course of APS-I or APD-I/APECED is widely variable: the list of possible disease components includes some 30 disorders. The initial manifestation may not include any of the known characteristic components, namely, mucocutaneous candidiasis, hypoparathyroidism, or adrenocortical insufficiency. Although mutation detection is available, it does not help to exclude this disease. Diagnostic strategy needs to be based on knowledge of the clinical picture, including the features of ectodermal dystrophy.
PubMed ID
12092452 View in PubMed
Less detail

The association of reduced folate carrier 80G>A polymorphism to outcome in childhood acute lymphoblastic leukemia interacts with chromosome 21 copy number.

https://arctichealth.org/en/permalink/ahliterature97590
Source
Blood. 2010 Jun 10;115(23):4671-7
Publication Type
Article
Date
Jun-10-2010
Author
Gregers J
Christensen IJ
Dalhoff K
Lausen B
Schroeder H
Rosthoej S
Carlsen N
Schmiegelow K
Peterson C
Author Affiliation
Division of Clinical Pharmacology, Department of Medicine and Care, Faculty of Health Sciences, Linköping, Sweden. jgregers@rh.dk
Source
Blood. 2010 Jun 10;115(23):4671-7
Date
Jun-10-2010
Language
English
Publication Type
Article
Keywords
Adolescent
Aneuploidy
Antineoplastic Combined Chemotherapy Protocols - administration & dosage - adverse effects - pharmacokinetics
Biological Transport - drug effects - genetics
Child
Child, Preschool
Chromosomes, Human, Pair 21 - genetics
Female
Humans
Infant
Male
Membrane Transport Proteins - genetics - metabolism
Methotrexate - administration & dosage - adverse effects - pharmacokinetics
Polymorphism, Single Nucleotide
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics - mortality - therapy
Remission Induction
Retrospective Studies
Abstract
The reduced folate carrier (RFC) is involved in the transport of methotrexate (MTX) across the cell membrane. The RFC gene (SLC19A1) is located on chromosome 21, and we hypothesized that the RFC80 G>A polymorphism would affect outcome and toxicity in childhood leukemia and that this could interact with chromosome 21 copy number in the leukemic clone. A total of 500 children with acute lymphoblastic leukemia treated according to the common Nordic treatment protocols were included, and we found that the RFC AA variant was associated with a 50% better chance of staying in remission compared with GG or GA variants (P = .046). Increased copy numbers of chromosome 21 appear to improve outcome also in children with GA or GG variant. In a subset of 182 children receiving 608 high-dose MTX courses, we observed higher degree of bone marrow toxicity in patients with the RFC AA variant compared with GA/GG variants (platelet 73 vs 99/105 x 10(9)/L, P = .004, hemoglobin 5.6 vs 5.9/6.0 mmol/L, P = .004) and a higher degree of liver toxicity in patients with RFC GG variant (alanine aminotransferase 167 vs 127/124 U/L, P = .05). In conclusion, the RFC 80G>A polymorphism interacts with chromosome 21 copy numbers and affects both efficacy and toxicity of MTX.
PubMed ID
20335220 View in PubMed
Less detail

Chernobyl, childhood cancer, and chromosome 21.

https://arctichealth.org/en/permalink/ahliterature23598
Source
BMJ. 1994 Jul 16;309(6948):139-40
Publication Type
Article
Date
Jul-16-1994
Author
J. Boice
M. Linet
Source
BMJ. 1994 Jul 16;309(6948):139-40
Date
Jul-16-1994
Language
English
Publication Type
Article
Keywords
Accidents
Air Pollutants, Radioactive
Child
Child, Preschool
Chromosomes, Human, Pair 21
Down Syndrome - epidemiology
Europe - epidemiology
Humans
Leukemia, Radiation-Induced - epidemiology
Lymphoma - epidemiology
Nuclear Reactors
Ukraine
Notes
Comment On: BMJ. 1994 Jul 16;309(6948):151-48044092
Comment On: BMJ. 1994 Jul 16;309(6948):154-78044093
Comment On: BMJ. 1994 Jul 16;309(6948):158-628044094
Comment In: BMJ. 1994 Nov 12;309(6964):1298; author reply 13007888857
Comment In: BMJ. 1994 Nov 12;309(6964):1298; author reply 13007888858
Comment In: BMJ. 1994 Nov 12;309(6964):12997741909
Comment In: BMJ. 1994 Nov 12;309(6964):1299-3007888861
Comment In: BMJ. 1994 Nov 12;309(6964):1300-17888862
PubMed ID
7741834 View in PubMed
Less detail

[Chromosomal translocation t(8,21) in acute myeloid leukemia of children: prognostic value of additional karyotype abnormalities].

https://arctichealth.org/en/permalink/ahliterature149425
Source
Vestn Ross Akad Med Nauk. 2009;(6):9-16
Publication Type
Article
Date
2009
Author
E V Fleishman
O I Sokova
A V Popa
M M Shneider
O P Kirichenko
L N Konstantinova
N F Metel'kova
Source
Vestn Ross Akad Med Nauk. 2009;(6):9-16
Date
2009
Language
Russian
Publication Type
Article
Keywords
Adolescent
Child
Child, Preschool
Chromosomes, Human, Pair 21 - genetics
Chromosomes, Human, Pair 8 - genetics
Female
Follow-Up Studies
Humans
Karyotyping
Leukemia, Myeloid, Acute - genetics - mortality
Male
Prognosis
Russia - epidemiology
Survival Rate - trends
Translocation, Genetic
Abstract
Prognostic significance of additional karyotype abnormalities was studied in 73 children with t(8,21) acute myeloid leukemia (AML). Additional chromosomal aberrations were documented in 61 cases (83.6%). The loss of sex chromosomes and/or deletion of the long arm of chromosome 9 (9q-) were predominant abnormalities, in agreement with the literature data. Other additional abnormalities detected in 14 cases were tentatively designated as "atypical". Comparison of pretreatment cytogenetic data and those obtained during relapses revealed the previously unknown rise in the frequency of atypical abnormalities in AML relapses (to 63.6% vs 19.2% at the first presentation, p
PubMed ID
19642542 View in PubMed
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Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.

https://arctichealth.org/en/permalink/ahliterature34658
Source
Clin Genet. 1996 Sep;50(3):116-20
Publication Type
Article
Date
Sep-1996
Author
K. Brøndum-Nielsen
K. Christensen
Author Affiliation
Department of Medical Genetics, John F Kennedy Institute, Glostrup, Denmark.
Source
Clin Genet. 1996 Sep;50(3):116-20
Date
Sep-1996
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Adolescent
Adult
Child
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 21
Cleft Palate - genetics
Denmark
Heart Defects, Congenital - genetics
Humans
In Situ Hybridization, Fluorescence
Mental Retardation - genetics
Registries
Research Support, Non-U.S. Gov't
Syndrome
Abstract
Velo-cardio-facial syndrome (VCFS) is a syndrome associated with haplo-insufficiency of genes at chromosome 22q11. The syndrome has a broad phenotypic spectrum including multiple anomalies, of which cleft palate (CP), congenital heart defects (CHD), and mental disabilities are among the most common. Hence, a high prevalence of 22q11 deletions should be expected among cases with a combination of CP and CHD or/and mental disability. In Denmark a population-based database comprising 2301 CP cases born 1936-1987 has been established. Cases with CP and CHD or/and mental disabilities were selected from the register. By using public registers 39 living cases were identified, among whom 15 agreed to blood sampling and testing for 22q11 deletion using FISH (fluorescence in situ hybridization) analysis. Four deletion cases were identified. Using a polymorphic microsatellite marker (D22S264), two cases were shown to be de novo deletions of maternal origin. The parental origin in the two other cases could not be determined. The patients ranged in age from 7 to 40 years. All patients had mental impairment, and one also showed signs of paranoid psychosis. Two cases had CHD. Furthermore, five cases previously karyotyped had other chromosomal aberrations. The study shows that facial cleft registers are an obvious source for identifying a group of patients with a high risk of VCFS and chromosome 22q11 microdeletion. These individuals as well as their families can benefit from genetic counselling.
PubMed ID
8946108 View in PubMed
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