-
Transfusion Apr 2016The high-incidence red blood cell (RBC) antigen Vel is coded by SMIM1 (small-membrane molecule 1 gene), where a homozygous 17 base pair deletion underlies the majority...
BACKGROUND
The high-incidence red blood cell (RBC) antigen Vel is coded by SMIM1 (small-membrane molecule 1 gene), where a homozygous 17 base pair deletion underlies the majority of Vel- phenotypes. Because anti-Vel has been reported to cause severe hemolytic transfusion reactions and periodically hemolytic disease of the newborn and fetus, identification of individuals negative for Vel is clinically important.
STUDY DESIGN AND METHODS
RBCs from the members of a large three-generation Hutterite family were serologically determined to be Vel+(w) . Genomic DNA from these family members was polymerase chain reaction amplified and analyzed for SMIM1 polymorphisms by either Sanger sequencing or restriction fragment length polymorphisms. SMIM1 genotyping was also conducted on DNA from an additional 104 Hutterites.
RESULTS
All family members whose RBCs weakly expressed the Vel antigen were found to be heterozygous for the c.64_80del mutation in SMIM1. Of the 104 additional Hutterite samples, four were found to be heterozygous for the same SMIM1 mutation.
CONCLUSION
After emigrating to the United States and Canada, the Hutterite population has expanded dramatically. Alleles that initially entered the population have been maintained within the population. The c.64_80del null allele of SMIM1 is one such allele, thus having implications for transfusion medicine and child or maternal health.
Topics: Alleles; Blood Group Antigens; Canada; Erythrocytes; Family; Female; Frameshift Mutation; Gene Deletion; Gene Frequency; Genotype; Humans; Male; Membrane Proteins; Pedigree; Polymorphism, Restriction Fragment Length; Population Groups; Selection, Genetic; United States
PubMed: 26666208
DOI: 10.1111/trf.13439 -
International Journal of Legal Medicine Jul 2012The analysis of autosomal short tandem repeat (STR) loci is a powerful tool in forensic genetics. We developed a multiplex system in which 15 non-Combined DNA Index...
The analysis of autosomal short tandem repeat (STR) loci is a powerful tool in forensic genetics. We developed a multiplex system in which 15 non-Combined DNA Index System autosomal STRs (D3S1744, D4S2366, D8S1110, D10S2325, D12S1090, D13S765, D14S608, Penta E, D17S1294, D18S536, D18S1270, D20S470, D21S1437, Penta D, and D22S683) could be amplified in one single polymerase chain reaction. DNA samples from 1,098 unrelated subjects of nine population groups living in Taiwan, including Taiwanese Han, indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, Thais, Vietnamese, Indonesians, and Caucasians, were collected and analyzed using this system. The distributions of the allelic frequencies and the forensic parameters of each population group were presented. The combined discrimination power and the combined power of exclusion were high in all population groups tested in this study. A multidimensional scaling plot of these nine population groups based on the Reynolds' genetic distances calculated from 15 autosomal STRs was constructed, and the genetic substructure in this area was presented. In conclusion, this 15 autosomal STR multiplex system provides highly informative STR data and appears useful in forensic casework and parentage testing in different populations.
Topics: DNA Fingerprinting; Ethnicity; Gene Frequency; Genetics, Population; Humans; Microsatellite Repeats; Multiplex Polymerase Chain Reaction; Retrospective Studies; Taiwan
PubMed: 22430197
DOI: 10.1007/s00414-012-0691-9 -
BMC Genetics Mar 2010The Mlabri are a group of nomadic hunter-gatherers inhabiting the rural highlands of Thailand. Little is known about the origins of the Mlabri and linguistic evidence...
BACKGROUND
The Mlabri are a group of nomadic hunter-gatherers inhabiting the rural highlands of Thailand. Little is known about the origins of the Mlabri and linguistic evidence suggests that the present-day Mlabri language most likely arose from Tin, a Khmuic language in the Austro-Asiatic language family. This study aims to examine whether the genetic affinity of the Mlabri is consistent with this linguistic relationship, and to further explore the origins of this enigmatic population.
RESULTS
We conducted a genome-wide analysis of genetic variation using more than fifty thousand single nucleotide polymorphisms (SNPs) typed in thirteen population samples from Thailand, including the Mlabri, Htin and neighboring populations of the Northern Highlands, speaking Austro-Asiatic, Tai-Kadai and Hmong-Mien languages. The Mlabri population showed higher LD and lower haplotype diversity when compared with its neighboring populations. Both model-free and Bayesian model-based clustering analyses indicated a close genetic relationship between the Mlabri and the Htin, a group speaking a Tin language.
CONCLUSION
Our results strongly suggested that the Mlabri share more recent common ancestry with the Htin. We thus provided, to our knowledge, the first genetic evidence that supports the linguistic affinity of Mlabri, and this association between linguistic and genetic classifications could reflect the same past population processes.
Topics: Asian People; Cluster Analysis; Genetics, Population; Humans; Language; Linkage Disequilibrium; Phylogeny; Polymorphism, Single Nucleotide; Population Groups; Thailand
PubMed: 20302622
DOI: 10.1186/1471-2156-11-18 -
The Medical Journal of Australia Jan 1988Three hundred and sixty-two sera were examined by the Legionella pneumophila indirect fluorescent antibody test, with serogroups 1 to 6 as antigens. Three age- and... (Comparative Study)
Comparative Study
Three hundred and sixty-two sera were examined by the Legionella pneumophila indirect fluorescent antibody test, with serogroups 1 to 6 as antigens. Three age- and sex-matched population groups were tested: 200 non-aborigines from Perth; 100 aborigines from the Kimberley region; and 62 aborigines from Jiggalong Mission in the Pilbara region. Each population group was composed of 50% male and 50% female subjects, all within the age range of 20 to 40 years. The seropositivity rate for serogroup 1 (Philadelphia) was 13% for the Perth population group, 26% for the Kimberley group and 35.5% for the Jiggalong group. Seropositivity rates with the other 5 serogroups for the Perth population group were as follows: serogroup 2, 1%; serogroup 3, 5%; serogroup 4, 3%; serogroup 5, 3%; and serogroup 6, 9.5%. In both of the aboriginal population groups more subjects were seropositive to serogroups 3 and 5 than to serogroup 1. Multiple serogroup specificities and the occurrence of high titres were more common among the aboriginal groups. These findings indicate that there is considerable variation in the prevalence of L. pneumophila antibodies among ecologically distinct groups within Western Australia.
Topics: Adult; Antibodies, Bacterial; Ecology; Female; Fluorescent Antibody Technique; Humans; Legionella; Male; Native Hawaiian or Other Pacific Islander; Serotyping; Western Australia
PubMed: 3275862
DOI: 10.5694/j.1326-5377.1988.tb104474.x -
Ethnicity & Health 1998The aim of this study was to assess the effect of 'population group' classification, as a specific instance of 'racial' categorization, on caesarean section rates in...
OBJECTIVE
The aim of this study was to assess the effect of 'population group' classification, as a specific instance of 'racial' categorization, on caesarean section rates in South Africa.
DESIGN
Information on 'population group' classification ('Black, 'Coloured', 'Indian', or 'White', as defined under apartheid legislation) and place of delivery, together with basic obstetric, sociodemographic and perinatal data, were extracted from the birth notification forms of 5456 children who made up the birth cohort of the Birth to Ten longitudinal study. This cohort included all births that occurred to mothers resident in Soweto-Johannesburg during a 7-week period in 1990.
RESULTS
After accounting for differences in maternal age, gravidity, birth weight and gestational age at delivery, the rate of caesarean sections at private facilities was more than twice that at public facilities. Although there were significant differences in the utilisation of private facilities by women from different 'population groups', there was an independent effect of 'population group' classification on caesarean section rates: caesarean section rates among women classified as 'White' and 'Coloured' were significantly higher (95% confidence intervals for odds ratios: 1.40-2.42 and 1.05-1.81, respectively) than among women classified as 'Black'.
CONCLUSION
'Population group' differences in caesarean section rates among South African women are not explained by differences in demographic risk factors for assisted delivery, nor by differences in access to private health care. Instead, the differences in section rates may reflect the effect of bias in clinical decision-making, and/or differences among women from different 'population groups' in their attitude towards assisted delivery, and their capacity to negotiate with clinicians.
Topics: Adult; Birth Weight; Cesarean Section; Cohort Studies; Ethnicity; Female; Gestational Age; Humans; Logistic Models; Maternal Age; Parity; South Africa
PubMed: 9673465
DOI: 10.1080/13557858.1998.9961850 -
International Journal of Environmental... Aug 2021Currently, there are few robustly evaluated social and emotional wellbeing (SEWB) measures available for use with Aboriginal youth in research, policy, and practice. As...
Currently, there are few robustly evaluated social and emotional wellbeing (SEWB) measures available for use with Aboriginal youth in research, policy, and practice. As such, this study used a Rasch measurement approach to examine the psychometric properties of Strong Souls, a 25-item self-reported SEWB instrument, created for use with Aboriginal youth in the Northern Territory. Our sample ( = 154) included youth (15-25 years old) living on Whadjuk (metropolitan Western Australia; = 91) and Kamilaroi countries (rural New South Wales; = 63). Using Rasch modelling techniques, evidence for multidimensionality in the scale was observed, resulting in subsequent analyses conducted separately on two subscales: Psychological Distress and Resilience. The Resilience subscale did not meet the Rasch model assumptions, with poor person and item separation and reliability indexes suggesting the scale was not reliably differentiating between participants' Resilience scores. The Psychological Distress subscale had mixed separation and reliability index results, with good construct validity implied but poorer ability to target the distress of participants. Our findings provide novel evidence demonstrating the functioning of Strong Souls in a contemporary sample of Aboriginal youth, suggesting further modifications of the instrument are required before it can be used with confidence as a reliable measure in this population group.
Topics: Adolescent; Adult; Emotions; Humans; Population Groups; Psychometrics; Reproducibility of Results; Surveys and Questionnaires; Young Adult
PubMed: 34444174
DOI: 10.3390/ijerph18168425 -
South African Medical Journal =... Oct 1990This study was undertaken to analyse admission data on all patients seen in the Red Cross War Memorial Children's Hospital Trauma Unit during the period 24 April 1984 -... (Review)
Review
This study was undertaken to analyse admission data on all patients seen in the Red Cross War Memorial Children's Hospital Trauma Unit during the period 24 April 1984 - 31 March 1989. Data were retrieved from computerised records completed on admission and were reviewed descriptively. Variations in age, sex and population group pattern for different causes of injury were evaluated together with data on the nature and place of injury and time seen. Data for analysis of nature of injury by cause were also retrieved, but over a 2-year period only (1986-1987). Accuracy of recorded data was assessed from a random sample of hospital records. During the 5-year period 57,468 patients were seen in the Trauma Unit, of whom 17.1% were admitted. In addition 6,377 cases of poisoning and 119 of near-drowning were seen by the medical departments. Forty-three per cent of injuries were due to falls, which were the most important cause of injury in both admitted and non-admitted patients of all age, sex and population groups. Other main cause groups were bumps and blows (15%), transport (11%) and burns (11%). Transport and burn injuries had the highest admission rates. This is the first study of children's injuries in southern Africa and provides information essential to future design of paediatric trauma care systems and accident prevention programmes.
Topics: Accidents, Traffic; Black or African American; Age Factors; Black People; Child; Child, Preschool; Female; Humans; Infant; Male; South Africa; Time Factors; Trauma Centers; White People; Wounds and Injuries
PubMed: 2218761
DOI: No ID Found -
Preventive Medicine Mar 2018Cigarette excise taxes are an effective tobacco control strategy but they vary geographically due to differences in state and local taxation. There are also pronounced...
Cigarette excise taxes are an effective tobacco control strategy but they vary geographically due to differences in state and local taxation. There are also pronounced sociodemographic differences in community composition, suggesting that different population groups might face vastly different cigarette excise tax rates. In this study, we examine how cigarette excise tax rates differ for population groups defined by race, ethnicity, poverty status, and sexual orientation, and how these differences have evolved over time. We constructed annual cigarette tax rates in 109 mutually exclusive jurisdictions within the United States (U.S.) between 2006 and 2014. After merging with Census sociodemographic data, we calculated annual cigarette excise tax exposures for each population group as the average of each place-based tax, weighted by the proportion of the group living there. In 2014, the average U.S. resident was required to pay $2.68 in cigarette taxes, more than 60% of which was due to state and local taxation. On average, Asian/Native Hawaiian and Other Pacific Islander populations faced the highest average tax ($2.95), which was $0.44 more than American Indian populations. Local taxes disproportionately augmented state and federal taxes for non-White populations, same-sex couples, and people living in poverty. Geographic variation in cigarette excise taxes produces sociodemographic variation in cigarette tax exposure. Raising cigarette taxes specifically in those places where groups at risk for tobacco-related disease are more likely to live, or otherwise creating geographically uniform tax levels, could reduce important disparities in cigarette smoking.
Topics: Ethnicity; Female; Geography; Humans; Local Government; Male; Poverty; Racial Groups; Sexual Behavior; Socioeconomic Factors; State Government; Taxes; Time Factors; Tobacco Products; United States
PubMed: 29289642
DOI: 10.1016/j.ypmed.2017.12.017 -
American Journal of Human Biology : the... 2008A total of 185 individuals from Colombia were sequenced for the first hypervariable region (HVS-I) of the mitochondrial DNA (mtDNA) genome, and a subset of these...
A total of 185 individuals from Colombia were sequenced for the first hypervariable region (HVS-I) of the mitochondrial DNA (mtDNA) genome, and a subset of these individuals were additionally genotyped for the second hypervariable segment (HVS-II). These individuals were collected according to their "self-reported ethnicity" in Colombia, comprising "Mestizos," "Mulatos," and "Afro-Colombians." We used databases containing more than 4,300 Native American lineages, 6,800 Africans, and 15,600 Europeans for population comparisons and phylogeographic inferences. We observe that Mulatos and Afro-Colombians have a dominant African mtDNA component, whereas Mestizos carry predominantly Native American haplotypes. All the populations analyzed have high diversity indices and there are no signatures of dramatic genetic drift episodes. Central and South America are the main candidate source populations of the Colombian Native American lineages, whereas west-central, southwest, and southeast Africa are the main original mtDNA sources for the African Colombian mtDNAs. We found that our results differ from those obtained in other studies for the same "population groups" in terms of haplogroup frequencies. This observation leads us to conclude that (i) self-reported ancestry is not a reliable proxy to indicate an individual's "ethnicity" in Colombia, (ii) our results do not support the use of outmoded race descriptions (Mestizos, Mulatos, etc.) mainly because these labels do not correspond to any genetically homogeneous population group, and (iii) studies relying on these terms to describe the population group of the individual, which then treat them as genetically homogeneous, carry a high risk of type I error (false positives) in medical studies in this country and of misinterpretation of the frequency of observed variation in forensic casework.
Topics: Black People; Colombia; DNA, Mitochondrial; Genetic Variation; Genetics, Population; Haplotypes; Humans; Indians, South American; Phylogeny; Principal Component Analysis; Sequence Analysis, DNA
PubMed: 18442080
DOI: 10.1002/ajhb.20783 -
Rivista Di Emoterapia Ed... 1962
Topics: ABO Blood-Group System; Blood Group Antigens; Humans; Nepovirus; Population Groups
PubMed: 14018874
DOI: No ID Found