Mongolians in the Genetic Landscape of Central Asia: Exploring the Genetic Relations among Mongolians and Other World Populations

Genetic data on North Central Asian populations are underrepresented in the literature, especially autosomal markers. In the present study we use 812 single nucleotide polymorphisms that are distributed across all the human autosomes and that have been extensively studied at Yale to examine the affinities of two recently collected, samples of populations: rural and cosmopolitan Mongolians from Ulaanbaatar and nomadic, Turkic-speaking Tsaatan from Mongolia near the Siberian border. We compare these two populations to one another and to a global set of populations and discuss their relationships to New World populations. Specifically, we analyze data on 521 autosomal loci (single SNPs and multi-SNP haplotypes) studied on 57 populations representing all the major geographical regions of the world. We conclude that the North Central Asian populations we study are genetically distinct from all other populations in our study and may be close to the ancestral lineage leading to the New World populations

Cortical Responses to Speech Sounds in 3-and 6-Month-Old Infants Fed Breast Milk, Milk Formula, or Soy Formula

Controversy exists about the safety of soy formula, with the main concern relating to potential estrogenic effects of soy protein. Since estrogens influence early brain development, we compared behavioral development and cortical responses (event-related potentials; ERPs) to speech sounds in infants fed either breast milk or formula (milk-or soy-based). Across-groups ERP measures were generally similar and behavioral measures were within normal ranges, suggesting no important influences of soy formula on behavioral development and brain function during the study period. Analyses relating ERP and behavioral measures revealed diet-and gender-specific emphases that may reflect differences in developmental trajectories of brain-behavior relationships

Autosomal dominant polycystic kidney disease in Toronto

Autosomal dominant polycystic kidney disease in Toronto. This study describes the Toronto, Ontario experience with autosomal dominant polycystic kidney disease (ADPKD). Patients were divided into three groups: Group 1, 19 families studied with genetic markers; Group 2, 80 pre-dialysis ADPKD patients followed by Toronto nephrologists in whom the incidence of non-renal complications and the mean age of onset of symptomatology is documented; Group 3, 4,449 individuals who entered end-stage renal failure (ESRF) in the Toronto region between the years 1981 and 1992, 320 with ADPKD and 4129 with other diseases. In this third group age of onset of ESRF, frequency, age and cause of death is compared between ADPKD and non-ADPKD. ADPKD caused by a gene different from that linked to chromosome 16 short-arm probes occurred at a frequency of between 8 and 17%. Incidence of hepatic cysts in ADPKD was similar to that of previous series, other organ involvement was underdiagnosed without deliberate screening, and incidence of symptomatic intracranial aneurysm was 1.25%. A 5% excess of patients with ADPKD died of cerebro-vascular accident. Years of survival after ESRF measured by life table analysis was significantly greater for ADPKD patients than for non-ADPKD patients. A high frequency of death due to infection still exists in ADPKD despite the reduction of invasive procedures in diagnosis and treatment, and despite the presumably improved recent methods of managing infection. The average age of onset of ESRF has been delayed by over six years, and average age of death of ADPKD patients at 63.9 years-old by 12.4 years since 1960

Results of a controlled drug trial in membranoproliferative glomerulonephritis

Results of a controlled drug trial in membranoproliferative glomerulonephritis. A prospective randomized drug trial was carried out on 59 patients with confirmed membranoproliferative glomerulonephritis (MPGN). The treatment group (27 patients) received cyclophosphamide, Coumadin, and dipyridamole for 18 months, and the control group (32 patients) received no specific therapy. Complications of the renal disease such as hypertension and fluid retention were treated similarly in both groups. Entrance criteria included confirmed renal pathology demonstrating either types I or II MPGN, a corrected creatinine clearance (CCr) of less than 80 ml/min/1.73 m2, and/or proteinuria greater than 2 g/day. Actuarial survival was not different between the treatment and the control groups in either MPGN type and was 85% in type I and 90% in type II at 2 years. The change in renal function, as measured by both the slope of CCr and the plasma creatinine reciprocal (1/Cr) at 6, 12, and 18 months was not significantly different between treatment and control groups in either types I or II when tested by both parametric and nonparametric analysis. The age, sex, and initial level of CCr did not influence the rate of decline. Control and treatment group proteinuria was not different at any time point in either types I or II MPGN. The small numbers of type II MPGN cases do not give sufficient power to allow conclusions regarding this therapy in type II. We can conclude that this treatment is ineffective in altering the natural history of type I MPGN.Résultats d'un essai médicamenteux contrôlé dans la glomérulonéphrite membrano-proliférative. Un essai médicamenteux prospectif randomisé a été entrepris chez 59 malades atteints de glomérulonéphrite membrano-proliférative confirmée (MPGN). Le groupe traité (27 malades) a recu de la cyclophosphamide, de la coumadine et du dipyridamole pendant 18 mois, et le groupe contrôle (32 malades) n'a pas recu de traitement spécifique. Les complications de la néphropathie telles que l'hypertension et al rétention liquidinne ont été traitées de facon identique dans les deux groupes. Les critères d'inclusion comprenaient une histologiérénale confirmée démontrant une MPGN de type I ou de type II, une clearance de la créatinine corrigée (CCr) de moins de 80 ml/min/1,73 m2 et/ou une protéinurie de plus de 2 g/jour. La survie actuarielle ne différait pas entre les groupes traité et contrôle dans aucun des types de MPGN, et était de 85% dans le type I et de 90% dans le type II à 2 ans. La modification de la fonction rénale, mesurée à la fois par la pente de CCr et par l'inverse de la créatininémie (1/Cr) à 6, 12, et 18 mois n'était pas significativement différente entre les groupes traité et contrôle, dans les types I ou II, paranalyse paramétrique et non paramétrique. L'âge, le sexe, et le niveau initial de la CCr n'influençaient pas la vitesse du déclin. La protéinurie des groupes contrôleet traité ne différait pas à aucun moment dans les MPGN de types I ou II. Le petit nombre de cas de MPGN de type II ne donnait pas une puissance suffisante pour permettre des conclusions en ce qui concerne ce traitement dans le type II. Nous pouvons conclure que ce traitement est incapable d'altérer l'histoire naturelle de la MPGN de type I

North Asian population relationships in a global context

Population genetic studies of North Asian ethnic groups have focused on genetic variation of sex chromosomes and mitochondria. Studies of the extensive variation available from autosomal variation have appeared infrequently. We focus on relationships among population samples using new North Asia microhaplotype data. We combined genotypes from our laboratory on 58 microhaplotypes, distributed across 18 autosomes, on 3945 individuals from 75 populations with corresponding data extracted for 26 populations from the Thousand Genomes consortium and for 22 populations from the GenomeAsia 100 K project. A total of 7107 individuals in 122 total populations are analyzed using STRUCTURE, Principal Component Analysis, and phylogenetic tree analyses. North Asia populations sampled in Mongolia include: Buryats, Mongolians, Altai Kazakhs, and Tsaatans. Available Siberians include samples of Yakut, Khanty, and Komi Zyriane. Analyses of all 122 populations confirm many known relationships and show that most populations from North Asia form a cluster distinct from all other groups. Refinement of analyses on smaller subsets of populations reinforces the distinctiveness of North Asia and shows that the North Asia cluster identifies a region that is ancestral to Native Americans

Ancestry inference of 96 population samples using microhaplotypes

Microhaplotypes have become a new type of forensic marker with a great ability to identify and deconvolute mixtures because massively parallel sequencing (MPS) allows the alleles (haplotypes) of the multi-SNP loci to be determined directly for an individual. As originally defined, a microhaplotype locus is a short segment of DNA with two or more SNPs defining three or more haplotypes. The length is short enough, less than about 300 bp, that the read length of current MPS technology can produce a phase-known sequence of each chromosome of an individual. As part of the discovery phase of our studies, data on 130 microhaplotype loci with estimates of haplotype frequency data on 83 populations have been published. To provide a better picture of global allele frequency variation, we have now tested 13 more populations for 65 of the microhaplotype loci from among those with higher levels of inter-population gene frequency variation, including 8 loci not previously published. These loci provide clear distinctions among 6 biogeographic regions and provide some information distinguishing up to 10 clusters of populations

They are not always a burden: older people and child fostering in Uganda during the HIV epidemic.

This qualitative study examines the role of older people (60 years and above) in fostering decisions for orphans and non-orphans within extended families in a rural Ugandan community heavily affected by HIV. Fieldwork conducted in 2006 provided information on the influence of HIV on fostering decisions through 48 individual in-depth interviews and two group interviews with foster-children and family members to develop detailed case studies related to 13 fostered adolescents. The adolescents included five non-orphans and eight orphans (five were double orphans because they had lost both parents). Older people play a very important role in fostering decisions as potential foster-parents, advisers, mediators and gatekeepers. They have a high level of authority over the foster-children, who are regarded as important resources within the extended family. With fewer potential caregivers available because of HIV-related deaths, the responsibility for fostering orphans has often fallen to surviving older people. Fostering is used by older people and the child's extended family as a strategy to ensure the welfare of the foster-child. When the foster-parent is an older person, it is also used to ensure physical and emotional support for the older person themselves. Support from the extended family towards foster households is widely reported to have been reduced by HIV by diminishing resources that would otherwise have been made available to support foster care. New initiatives and investment are required to complement community and family resources within well-managed social protection and welfare programmes. To be effective, such programmes will require adequate investment in administrative capacity and monitoring. They must aim to strengthen families and, recognizing that resources are limited, should prioritize the community's poorest households, rather than specifically targeting households with orphans or other foster-children

The Changing Relationships of Co-wives Over Time in Rural Southern Uganda

Co-wives are often portrayed both as being rivals for their husband's affections and resources as well as collaborators in managing the family. I explore a further dimension: historical time. The life trajectories of individual women in rural Uganda show how co-wife relationships are established, change, endure or end. In addition to ageing, which plays a part in women's changing conjugal arrangements, political upheavals and HIV and AIDS have also had a profound impact on their lives, affecting not only their relationship and attitude towards their husbands but also towards their children, as well as each other. © 2012 Taylor and Francis Group, LLC