Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Inuit”

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

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

At least 613 records · Page 34Linked to original sources
PubMed2002

Aboriginal women and menopause.

OBJECTIVE: To determine the characteristics of menopause in Aboriginal women, in particular Canadian Aboriginal women. METHODS: An extensive review of articles extracted from both medical and non-medical databases was undertaken. The search strategy combined the key word "menopause" with any of the following terms: Aboriginals, Native Americans, Natives, Indians, Métis, Inuit, Eskimo, and Indigenous people. RESULTS: A total of 29 records were found, 13 of which had results relevant to the objective of the study. These articles suggest that menopause may have a positive effect on the lives of Aboriginal women with respect to increasing their freedom within the community. Aboriginal women appear to experience fewer vasomotor symptoms than other North American women. CONCLUSION: More research needs to be done to determine the effect menopause has on Canadian Aboriginal women and their coexisting diseases such as cardiovascular disease, hypertension, and diabetes mellitus. This work will allow health care providers to make more informed decisions on managing Aboriginal women's transition through menopause in areas such as hormone replacement therapy.

Adult↗
PubMed1979

Methylmercury poisoning in Canadian Indians--the elusive diagnosis.

A World Health Organization Expert Committee has concluded that symptoms of methylmercury poisoning may appear at blood concentrations of 200-500 ng Hg/ml. Blood levels in this range have been found in several Indian and Inuit communities in Canada. The syndrome of severe methylmercury poisoning (Hunter-Russell syndrome) is well described. However, diagnosis of less severe cases is difficult. This paper review the present situation in Canada. The problems of diagnosis currently being encountered are discussed and are illustrated by the case of an individual who had one of the highest blood concentrations (551 ng Hg/ml) ever described in fish-eating populations outside of the outbreaks in Minamata and Niigata in Japan. Although mercury concentrations in brain were estimated to have been in the "symptomatic" range at least once in the two years prior to his death, neurohistological examination was normal. Detailed examination by two teams of neurologists revealed effects that may be associated with methylmercury poisoning but a definitive diagnosis remained elusive.

Aged↗
PubMed2002

Enantiomer-specific accumulation of PCB atropisomers in the bowhead whale (Balaena mysticetus).

Blubber (n = 40) and liver (n = 20) samples from the bowhead whale (Balaena mysticetus) were collected during the 1997-1998 Native (Inuit) subsistence harvests in Barrow, AK. Bowhead tissues and zooplankton were analyzed for polychlorinated biphenyl (PCB) concentrations and the enantiomeric fractions (EFs) of eight chiral PCB congeners (PCB-91, 95, 135, 136, 149, 174, 176, and 183) to quantify the enantiomer-specific accumulation of PCBs in this cetacean. PCB concentrations in bowhead blubber were low (mean +/- 1 SE: 610 +/- 54 ng g(-1) lipid) relative to other cetaceans. The accumulation of several chiral PCBs (PCB-91, 135, 149, 174, 176, and 183) in bowhead blubber was enantiomer-specific relative to bowhead liver and zooplankton, suggesting that biotransformation processes within the bowhead whale are enantioselective. The EFs for PCB-95 and 149 were significantly correlated with body length in male and female whales, while EFs for PCB-91 correlated with length in males only. Despite evidence for enantioselective biotransformation, all three congeners bioaccumulated in the bowhead relative to PCB-153. Results suggest that enantioselective accumulation of PCB-91, 95, and 149 is influenced by PCB concentrations, age, and/or the modification of an uncharacterized stereoselective process (or processes) during sexual maturity.

Adipose Tissue↗
PubMed1998

Problems in search of solutions: health and Canadian aboriginals.

The purpose of this paper is to explore the health status of Canadian Aboriginals, along with their perceived community health problems and proposed solutions to these issues. Data are drawn from the 1991 Aboriginal Peoples Survey (APS), which is a weighted random sample of the Aboriginal population. Comparisons were made with respect to group identity (North American Indian, Métis and Inuit) and geographic location (reserve, urban, rural and North) and across a series of health status and health care use indicators. Analysis reveals that geographic location, as compared with Aboriginal identity, appears to have a large impact with respect to health status and use of physician services. On-reserve Aboriginals, for example, reported a lower likelihood of having seen a physician and were more likely to rank their health as fair or poor. Location also influenced perceived community health problems and solutions. Self-identified problems included drugs, cancer and arthritis, while corresponding solutions included education, counseling and service access. Although the problems and solutions were relatively consistent across space, they too varied in their importance. In general, the results tend to reinforce the determinants of health framework, suggesting that the provision of health services is insufficient to remove health disparities on its own. Instead, broader social-welfare provisions must be considered.

Adolescent↗
PubMed2000

Heterogeneity of Taiwan's indigenous population: possible relation to prehistoric Mongoloid dispersals.

Taiwan's 9 indigenous tribes (Tsou, Bunun, Paiwan, Rukai, Atayal, Saisiat, Ami, Puyuma, Yami) are highly homogeneous within each tribe, but diversified among the different tribes due to long-term isolation, most probably since Taiwan became an island about 12,000 years ago. Homogeneity of each tribe is evidenced by many HLA-A,B,C alleles having the world's highest ever reported frequencies, e.g. A24 (86.3%), A26 (18.8%), Cw10 (36.8%), Cw7 (66%), Cw8 (32.1%), B13 (27.9%), B62 (37.4%), B75 (18%), B39 (53.5%), B60 (33.3%), and B48 (24%). Also, all of these tribes have HLA class I haplotype frequencies greater than 10%, with A24-Cw7-B39 in Saisiat (44.5%) being the highest, suggesting Taiwan's indigenous tribes are probably the most homogeneous ( the "purest") population in the world. A24-Cw8-B48, A24-Cw10-B60 and A24-Cw9-B61 found common to many Taiwan indigenous tribes, have also been observed in Maori, Papua New Guinea Highlanders, Orochons, Mongolians, Inuit, Japanese, Man, Buryat, Yakut, Tlingit, Tibetans and Thais. These findings suggest Taiwan's indigenous groups are more or less genetically related to both northern and southern Asians. Principal component analysis and the phylogenetic tree (using the neighbor-joining method) showed close relationship between the indigenous groups and Oceanians. This relationship supports the hypothesis that Taiwan was probably on the route of prehistoric Mongoloid dispersals that most likely took place along the coastal lowland of the Asian continent (which is under the sea today). Cultural anthropology also suggests a relationship between Taiwan's indigenous tribes and southern Asians and to a lesser extent, northern Asians. However, the indigenous groups show little genetic relationship to current southern and northern Han Chinese.

Alleles↗
PubMed2002

Exfoliation syndrome: frequency, gender distribution and association with climatically induced alterations of the cornea and conjunctiva.

PURPOSE: To investigate exfoliation syndrome (ES) in order to elucidate gender distribution and the roles of genetic and climatic factors in its manifestation. MATERIAL AND METHODS: We studied the gender distribution of ES and the association between ES and the appearance of certain climatically induced disorders (pterygium, climatic droplet keratopathy) and the size of pingueculae in populations living in the Arctic region, in temperate regions and in tropical regions. This involved a total of 11 samples taken in eight different countries, comprising 2206 persons of both genders over the age of 50 years. RESULTS: A total of 1051 males were investigated for ES and 147 of them (14.0%) were found to have it. The corresponding figures for females were 1093 and 177 (16.2%). After standardization according to age, no systematic difference between the genders was found in the study. The frequency of ES varied greatly. It was not observed at all in the Inuit (Eskimos) but was found most frequently (about 30%) among the Saami (Lapps), Aland Islanders, Finns, Icelanders and Russians over 70 years of age. After the age of 50, the frequency of ES increases rapidly with age in all populations. However, the curves for ES in people living in the tropics show a delay of about 10 years. In contrast, the frequency of climatically caused changes (pterygium, climatic keratopathy and pronounced pinguecula) mostly peaks at the age of 50 years and is highest in the tropics and in the Arctic. Males in these regions tended to be more affected by climatically caused changes than females. Likewise, in tropical climates, where radiation from the sun is strong, and in Lapland and Novosibirsk, where there is radiation from snow, males showed more evidence of ES than females. However, examination of 506 patients from a private practice in South Finland, who were under observation for glaucoma or for risk of glaucoma, showed females to be in the majority of those with ES. CONCLUSIONS: As a rule, climate does not appear to influence the occurrence of ES. However, in tropical countries, where radiation from the sun is strong, ES was more common among males than among females. In the light of its peculiar population distribution, even when climatic factors are considered, there would appear to be an important genetic factor involved in the manifestation of ES.

Age Distribution↗
PubMed2005

The Mid-Canada Radar Line and First Nations' people of the James Bay region, Canada: an evaluation using log-linear contingency modelling to analyze organochlorine frequency data.

Abandoned radar line stations in the North American arctic and sub-arctic regions are point sources of contamination, especially for PCBs. Few data exist with respect to human body burden of organochlorines (OCs) in residents of communities located in close proximity to these radar line sites. We compared plasma OC concentration (unadjusted for total lipids) frequency distribution data using log-linear contingency modelling for Fort Albany First Nation, the site of an abandoned Mid-Canada Radar Line station, and two comparison populations (the neighbouring community of Kashechewan First Nation without such a radar installation, and Hamilton, a city in southern Ontario, Canada). This type of analysis is important as it allows for an initial investigation of contaminant data without imputing any values. The two-state log-linear model (employing both non-detectable and detectable concentration frequencies and applicable to PCB congeners 28 and 105 and cis-nonachlor) and the four-state log-linear model (using quartile concentration frequencies for Aroclor 1260, PCB congeners [99,118,138,153,156,170,180,183,187], beta-HCH, p,p'-DDT +p,p'-DDE, HCB, mirex, oxychlordane, and trans-nonachlor) revealed that the effects of subject gender were inconsequential. Significant differences (p < 0.05) between the groups examined were attributable to the effect of location on the frequency of detection of OCs or on their differential distribution among the concentration quartiles. In general, people from Hamilton had higher frequencies of non-detections and of concentrations in the first quartile (p < 0.05) for most OCs compared to people from Fort Albany and Kashechewan (who consume a traditional diet of wild meats that does not include marine mammals). An unexpected finding was that, for Kashechewan males, the frequency of many OCs was significantly higher (p < 0.05) in the 4th concentration quartile than that predicted by the four-state log-linear model, but significantly lower than expected in the 1st quartile for beta-HCH. The levels of PCBs found for women in Fort Albany and Kashechewan were greater than those reported for Dene (First Nation people) and Métis (mixed heritage) of the western Northwest Territories (NWT) who did not consume marine mammals, and for Inuit living in the central NWT (occasional consumers of marine mammals). Moreover, the levels of total p,p'-DDT were greater for Fort Albany and Kashechewan women compared to these same aboriginal groups.

Animals↗
PubMed2001

Expression, candidate gene, and population studies of the melanocortin 5 receptor.

In mouse the melanocortin 5 receptor is known to regulate sebaceous gland function. To clarify its role in man, we have studied melanocortin 5 receptor expression in skin, and allelic variation at the melanocortin 5 receptor locus in diverse human populations and candidate disease groups. Melanocortin 5 receptor protein and mRNA expression were studied by immunohistochemistry and reverse transcriptase polymerase chain reaction. Melanocortin 5 receptor mRNA was detected in normal skin and cultured keratinocytes but not in cultured fibroblasts or melanocytes. Immunohistochemistry revealed melanocortin 5 receptor immunoreactivity in the epithelium and appendages, including the sebaceous gland, eccrine glands, and apocrine glands, as well as low level expression in the interfollciular epidermis. In order to screen for genetic diversity in the melanocortin 5 receptor that might be useful for allelic association studies we sequenced the entire melanocortin 5 receptor coding region in a range of human populations. One nonsynonymous change (Phe209Leu) and four synonymous changes (Ala81Ala, Asp108Asp, Ser125Ser, and Thr248Thr) were identified. Similar results were found in each of the populations except for the Inuit in which only the Asp108Asp variant was seen. The apparent "global distribution" of melanocortin 5 receptor variants may indicate that they are old in evolutionary terms. Variation of melanocortin 5 receptor was examined in patients with acne (n = 21), hidradenitis supprativa (n = 4), and sebaceous gland lesions comprising sebaceous nevi, adenomas, and hyperplasia (n = 13). No additional mutations were found. In order to determine the functional status of the Phe209Leu change, increase in cAMP in response to stimulation with alpha-melanocyte-stimulating hormone was measured in HEK-293 cells transfected with either wild-type or the Phe209Leu variant. The variant melanocortin 5 receptor was shown to act in a concentration-dependent manner, which did not differ from that of wild type. We have therefore found no evidence of a causative role for melanocortin 5 receptor in sebaceous gland dysfunction, and in the absence of any association between variation at the locus and disease group, the pathophysiologic role of the melanocortin 5 receptor in man requires further study.

Acne Vulgaris↗
PubMed2002

Age at acquisition of Helicobacter pylori in a pediatric Canadian First Nations population.

BACKGROUND: Few data exist regarding the epidemiology of Helicobacter pylori infections in aboriginal, including the First Nations (Indian) or Inuit (Eskimo) populations of North America. We have previously found 95% of the adults in Wasagamack, a First Nations community in Northeastern Manitoba, Canada, are seropositive for H. pylori. We aimed to determine the age at acquisition of H. pylori among the children of this community, and if any association existed with stool occult blood or demographic factors. MATERIALS AND METHODS: We prospectively enrolled children resident in the Wasagamack First Nation in August 1999. A demographic questionnaire was administered. Stool was collected, frozen and batch analyzed by enzyme-linked immunosorbent assay (ELISA) for H. pylori antigen and for the presence of occult blood. Questionnaire data were analyzed and correlated with the presence or absence of H. pylori. RESULTS: 163 (47%) of the estimated 350 children aged 6 weeks to 12 years, resident in the community were enrolled. Stool was positive for H. pylori in 92 (56%). By the second year of life 67% were positive for H. pylori. The youngest to test positive was 6 weeks old. There was no correlation of a positive H. pylori status with gender, presence of pets, serum Hgb, or stool occult blood. Forty-three percent of H. pylori positive and 24% of H. pylori negative children were < 50th percentile for height (p = 0.024). Positive H. pylori status was associated with the use of indoor pail toileting (86/143) compared with outhouse toileting (6/20) (p = 0.01). CONCLUSIONS: In a community with widespread H. pylori infection, overcrowded housing and primitive toileting, H. pylori is acquired as early as 6 weeks of age, and by the second year of life 67% of children test positive for H. pylori.

Age of Onset↗
PubMed2002

Atopic sensitization among children in an arctic environment.

BACKGROUND: Asthma has been reported to be rare among Inuits, but so far total and specific IgE levels have never been determined in arctic populations. OBJECTIVE: To determine the prevalence of atopy in children living in an arctic environment, and to examine whether atopy and total IgE levels were associated with parental place of birth, as a measure of ethnicity, and travel history. MATERIAL AND METHODS: All schoolchildren in Sisimiut, a community on the West coast of Greenland, were screened for atopy. Blood samples were analysed for total IgE and for specific IgE against inhalant and food allergens. Information on place of birth of children and their parents was obtained from national registries. Information on travel history was obtained from self-administered questionnaires. RESULTS: A total of 1031 schoolchildren aged 5 to 18 years had a blood sample drawn (85% of available children for the study). Of these, 151 (14.6%) children were sensitized to at least one inhalant allergen and 42 (4.1%) to at least one food allergen. Sensitization to grass was most common, whereas sensitization to mugwort, birch, animal-dander and house-dust mite was infrequent. Children whose parents were both born abroad had a higher risk of sensitization to inhalant allergens compared with children born of Greenlandic parents (OR = 8.6, 95% CI 2.8-27.1). Furthermore, children who had been abroad had a higher risk of sensitization towards pollen (OR = 1.6, 95% CI 1.0-2.5) and animal-dander (OR = 2.1, 95% CI 1.0-4.6) after adjustment for confounders. Both atopic and non-atopic children demonstrated high levels of total IgE (medians of 251 and 58 kU/L). CONCLUSIONS: Compared with European findings Greenlandic children have high levels of total IgE but a low prevalence of allergic sensitization towards inhalant allergens. This may be due to a low genetic susceptibility to atopy and less allergen exposure, as well as to living conditions in an arctic environment.

Adolescent↗
PubMedDate not supplied

Effect of randomized supplementation with high dose olive, flax or fish oil on serum phospholipid fatty acid levels in adults with attention deficit hyperactivity disorder.

Dietary intake of omega-3 fatty acids has been positively correlated with cardiovascular and neuropsychiatric health in several studies. The high seafood intake by the Japanese and Greenland Inuit has resulted in low ratios of the omega-6 fatty acid arachidonic acid (AA, 20:4n-6) to eicosapentaenoic acid (EPA, 20:5n-3), with the Japanese showing AA:EPA ratios of approximately 1.7 and the Greenland Eskimos showing ratios of approximately 0.14. It was the objective of this study to determine the effect of supplementation with high doses (60 g) of flax and fish oils on the blood phospholipid (PL) fatty acid status, and AA/EPA ratio of individuals with Attention Deficit Hyperactivity Disorder (ADHD), commonly associated with decreased blood omega-3 fatty acid levels. Thirty adults with ADHD were randomized to 12 weeks of supplementation with olive oil (< 1% omega-3 fatty acids), flax oil (source of alpha-linolenic acid; 18:3n-3; alpha-LNA) or fish oil (source of EPA and docosahexaenoic acid; 22:6n-3; DHA). Serum PL fatty acid levels were determined at baseline and at 12 weeks. Flax oil supplementation resulted in an increase in alpha-LNA and a slight decrease in the ratio of AA/EPA, while fish oil supplementation resulted in increases in EPA, DHA and total omega-3 fatty acids and a decrease in the AA/EPA ratio to values seen in the Japanese population. These data suggest that in order to increase levels of EPA and DHA in adults with ADHD, and decrease the AA/EPA ratio to levels seen in high fish consuming populations, high dose fish oil may be preferable to high dose flax oil. Future study is warranted to determine whether correction of low levels of long-chain omega-3 fatty acids is of therapeutic benefit in this population.

Adolescent↗
PubMed2001

Old World sources of the first New World human inhabitants: a comparative craniofacial view.

Human craniofacial data were used to assess the similarities and differences between recent and prehistoric Old World samples, and between these samples and a similar representation of samples from the New World. The data were analyzed by the neighbor-joining clustering procedure, assisted by bootstrapping and by canonical discriminant analysis score plots. The first entrants to the Western Hemisphere of maybe 15,000 years ago gave rise to the continuing native inhabitants south of the U.S.-Canadian border. These show no close association with any known mainland Asian population. Instead they show ties to the Ainu of Hokkaido and their Jomon predecessors in prehistoric Japan and to the Polynesians of remote Oceania. All of these also have ties to the Pleistocene and recent inhabitants of Europe and may represent an extension from a Late Pleistocene continuum of people across the northern fringe of the Old World. With roots in both the northwest and the northeast, these people can be described as Eurasian. The route of entry to the New World was at the northwestern edge. In contrast, the Inuit (Eskimo), the Aleut, and the Na-Dene speakers who had penetrated as far as the American Southwest within the last 1,000 years show more similarities to the mainland populations of East Asia. Although both the earlier and later arrivals in the New World show a mixture of traits characteristic of the northern edge of Old World occupation and the Chinese core of mainland Asia, the proportion of the latter is greater for the more recent entrants.

Americas↗
PubMed2004

Low effectiveness of highly active antiretroviral therapy and high mortality in the Greenland HIV-infected population.

Greenland is a high-income country with free access to human immunodeficiency virus (HIV) care, including highly active antiretroviral therapy (HAART). We aimed to examine the HIV prevalence, age and gender distribution, and the effectiveness of HAART on CD4 positive cell count, viral load (VL), and mortality in the Greenland HIV-infected population. In this population-based cohort study we collected demographic, clinical and biochemical data on all HIV-infected patients followed in health clinics since 1995. For each case, we identified 100 age- and gender-matched population controls. The HIV cohort included 103 patients of whom 91% were Inuit; 81% were infected heterosexually. Only 40% of the patients had a VL <400 copies/ml at 48 weeks after starting HAART, and patients on HAART had a substantial excess relative mortality compared with the general population (mortality rate ratio [MRR]: 10.6; 95% confidence interval [CI]: 6.9-16.4). After the introduction of HAART, the mortality decreased (MRR: 2.5; 95% CI 0.9-6.8), but remained high with a mortality rate of 62 per 1000 person-years (py) (95% CI 29-129). Our findings underline the difficulties of implementing successful HIV treatment even with unlimited economic resources and free access to health care.

Adult↗
PubMed2006

A study of multi-media suicide education in Nunavut.

A CD-ROM on suicide prevention was evaluated in an Inuit hamlet to examine if knowledge is acquired after viewing this multi-media format of education. Twenty-four respondents showed knowledge increased after viewing. Forty six percent had never used a computer yet 95% felt the technology could train counselors. Such technology may improve knowledge and skills in this cultural setting and perhaps may be useful in other cross-cultural environments.

Arctic Regions↗
PubMed2001

An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations.

The genetic variance at seven Y-chromosomal microsatellite loci (or short tandem repeats [STRs]) was studied among 986 male individuals from 20 globally dispersed human populations. A total of 598 different haplotypes were observed, of which 437 (73.1%) were each found in a single male only. Population-specific haplotype-diversity values were.86-.99. Analyses of haplotype diversity and population-specific haplotypes revealed marked population-structure differences between more-isolated indigenous populations (e.g., Central African Pygmies or Greenland Inuit) and more-admixed populations (e.g., Europeans or Surinamese). Furthermore, male individuals from isolated indigenous populations shared haplotypes mainly with male individuals from their own population. By analysis of molecular variance, we found that 76.8% of the total genetic variance present among these male individuals could be attributed to genetic differences between male individuals who were members of the same population. Haplotype sharing between populations, phi(ST) statistics, and phylogenetic analysis identified close genetic affinities among European populations and among New Guinean populations. Our data illustrate that Y-chromosomal STR haplotypes are an ideal tool for the study of the genetic affinities between groups of male subjects and for detection of population structure.

Africa↗
PubMed2002

Insights into SEN virus prevalence, transmission, and treatment in community-based persons and patients with liver disease referred to a liver disease unit.

To document the prevalence and routes of transmission of SEN virus (SEN-V) in community-based individuals and patients referred to a liver disease unit, stored serum samples obtained from 160 Canadian Inuit and 140 patients with liver disease were tested for SEN-V DNA by polymerase chain reaction. In the community-based population, SEN-V was present in 57 (36%) of 160 persons. SEN-V-positive individuals tended to be younger and were more often male. Liver enzyme levels and serologic markers for hepatitis A and B viruses were similar in SEN-V-positive and SEN-V-negative individuals. SEN-V was present in 30 (21%) of the 140 patients with liver disease. Age, sex, risk factors for viral acquisition, prevalence of symptoms, and liver biochemical and histological findings were similar in SEN-V-positive and SEN-V-negative patients. These results indicate that SEN-V infection is a common viral infection in both healthy individuals and patients with chronic liver disease, that transmission likely occurs via nonparenteral routes, and that SEN-V infection is not associated with higher rates of or more-severe liver disease in persons with preexisting liver disease.

Adult↗
PubMed2006

Predictors of belief that genetic test information about hemochromatosis should be shared with family members.

We queried 101,951 white, Hispanic, black, Asian, American Indian (i.e., American Indian or Alaska Native in the United States and North American Indian, Metis, or Inuit in Canada) and Pacific Islander (including Native Hawaiian) adults who agreed to be genotypically and phenotypically screened for hemochromatosis as part of the Hemochromatosis and Iron Overload Screening (HEIRS) study about their views on sharing genetic test information with family members. Multiple logistic regression (adjusting for study site, age group, race/ethnicity, preferred language, gender, education group, income group, SF-36 General Health and Mental Health subscales, perceived benefits and limitations of genetic testing, and belief that genetic testing is a good idea) evaluated independent predictors of responding "Strongly Agree" or "Agree" versus "Disagree" or "Strongly Disagree" to the statement "Information about a person's genetic risk should be shared with family members". Agreement that genetic risk information should be shared with family members was high (93% in the overall sample of 78,952 who answered this question), but differed among racial/ethnic groups. Hispanics were significantly less likely to agree that genetic test information should be shared with family members (i.e., 88% versus 92% or more among all other ethnicities). The relationship of perceived limitations and benefits of testing, gender, and age group to the belief that information should be shared differed among racial/ethnic groups, with Spanish-preferring Hispanics being the most different from other subgroups.

Cross-Cultural Comparison↗
PubMed1996

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with an unstable and expanded CAG repeat. We analyzed this locus from various sources including MJD families, Acadian, African American, Caucasian, Greenland Inuit and Thai populations. The range of the CAG repeat size was 14-40 in the normal alleles while the MJD alleles contained 73-78 repeats in our studies. We found 25 different alleles on normal chromosomes with a heterozygosity of 0.86 in combined populations. The most common alleles were 23 (22.9%) and 14 (25.5%) repeats. We also examined 16 chimpanzees and various Old World monkeys: a pigtail macaque, a mangabey and 12 rhesus macaques. The DNA sequences surrounding the CAG repeat did not vary among species. The range of the number of the CAG repeats is 13-14 in macaques, 16 in mangabey and 14-20 in chimpanzees. Variant CAA or AAG triplets in the CAG repeat tracts were found in all 268 human, 28 monkey and 32 chimpanzee chromosomes. As reported in a previous study [Kawaguchi et al. (1994) Nature Genet. 8, 221-228] the common variant positions were the third (CAA), fourth (AAG) and sixth (CAA) positions. However, we found three human chromosomes containing CAG at the sixth position and the mangabey had AAG at the ninth position. In addition, we found CAG at the fourth position and AAG at the sixth position in all macaque chromosomes. The nucleotide following the CAG repeat tract was usually G in all species studied. However, we sometimes found C at this position in human and chimpanzee chromosomes. Interestingly, this variant C was found in all expanded chromosomes and in 54.5% of chromosomes with 27-40 CAG repeats but it was not found in any chromosomes with less than 20 CAG repeats. We hypothesize that the variant C may be associated with CAG repeat instability.

Animals↗