Sex linked versus autosomal inbreeding coefficient in close consanguineous marriages in the Basque country and Castile (Spain): genetic implications

1995 ◽  
Vol 27 (4) ◽  
pp. 379-391 ◽  
Author(s):  
R. Calderón ◽  
B. Morales ◽  
J. A. Peña ◽  
J. Delgado

SummaryPedigree structures of 161 uncle/niece-aunt/nephew and 4420 first cousin consanguineous marriages registered during the 19th and 20th centuries in two large and very different Spanish regions have been analysed and their genetic consequences evaluated. The frequencies of the different pedigree subtypes within each degree of relationship were quite similar in both populations despite significant heterogeneity in inbreeding patterns. The mean X-linked inbreeding coefficient (Fx) for each type of cousin mating was calculated and compared to that expected for autosomal genes (F). The effect of genealogical structure on theFx/Fradio was compared to different cultural populations worldwide. Preferentiality and avoidance of close consanguinity along with specific types of pedigrees are discussed on the basis of premarital migration and sociocultural rules still deeply rooted in certain human groups. By admitting that the observedFxcoefficient is usually higher thanFin most human populations some remarks have been made in terms of population genetic risk.

1997 ◽  
Vol 29 (2) ◽  
pp. 171-180
Author(s):  
YASMIN, J. M. NAIDU ◽  
C. G. N. MASCIE-TAYLOR

Data on patterns of marriage, differential fertility and mortality were collected from 211 Kotia women residing in Visakhapatnam district of Andhra Pradesh, India. Consanguineous marriages made up just over a quarter of the total, and of these, father's sister's daughter (FSD) were more common than mother's brother's daughter (MBD). The mean inbreeding coefficient for the sample (F) was 0·0172. Women in consanguineous marriages had a lower mean number of total conceptions, live births and living offspring (net fertility) than women in non-consanguineous marriages. Significant heterogeneity was found in the means of living offspring for FSD, MBD and non-consanguineous couples, but not for conceptions and live births.


2012 ◽  
Vol 45 (1) ◽  
pp. 31-39 ◽  
Author(s):  
G. YAMAMAH ◽  
E. ABDEL-RAOUF ◽  
A. TALAAT ◽  
A. SAAD-HUSSEIN ◽  
H. HAMAMY ◽  
...  

SummaryA total of 3961 married couples from six major geographical areas representing the South Sinai governorates in Egypt were studied to assess the rate of consanguineous marriage. The population of six selected areas (St Catherines, Nuweiba, Abu Rudeis, Ras Sudr, El Tor and Abu Zenima) were subdivided into Bedouin, urban and mixed populations. A questionnaire-based interview was conducted showing that the consanguinity rate in this region is 37.5%, with the highest rate recorded in Abu Rudeis (52.3%) and lowest rate in Nuweiba (24.1%). Consanguinity was significantly higher among the Bedouin population compared with the urban population in Abu Rudeis, Ras Sudr, El Tor and Abu Zenima, while in St Catherines and Nuweiba there was no statistically significant difference. Among consanguineous couples, 5%, 60% and 35% were double first cousins, first cousins and second cousins respectively. The mean inbreeding coefficient α of the studied population was 0.01845.


1995 ◽  
Vol 85 (1) ◽  
pp. 21-28 ◽  
Author(s):  
Philippe Borsa ◽  
D. Pierre Gingerich

AbstractSeven presumed Mendelian enzyme loci (Est-2, Est-3, Gpi, Idh-l, Idh-2, Mdh-2 and Mpi) were characterized and tested for polymorphism in coffee berry borers, Hypothenemus hampei (Ferrari), sampled in Côte d′Ivoire, Mexico and New Caledonia. The average genetic diversity was H = 0.080. Two loci, Mdh-2 and Mpi were polymorphic, and thus usable as genetic markers. The population structure of H. hampei was analysed using Weir & Cockerham's estimators of Wright's F-statistics. A high degree of inbreeding (f = 0.298) characterized the elementary geographic sampling unit, the coffee field. The estimate of gene flow between fields within a country was Nm = 10.6 and that between countries was Nm = 2. The population genetic structure in H. hampei could be related to its known population biological features and history.


Author(s):  
Adrien Oliva ◽  
Raymond Tobler ◽  
Alan Cooper ◽  
Bastien Llamas ◽  
Yassine Souilmi

Abstract The current standard practice for assembling individual genomes involves mapping millions of short DNA sequences (also known as DNA ‘reads’) against a pre-constructed reference genome. Mapping vast amounts of short reads in a timely manner is a computationally challenging task that inevitably produces artefacts, including biases against alleles not found in the reference genome. This reference bias and other mapping artefacts are expected to be exacerbated in ancient DNA (aDNA) studies, which rely on the analysis of low quantities of damaged and very short DNA fragments (~30–80 bp). Nevertheless, the current gold-standard mapping strategies for aDNA studies have effectively remained unchanged for nearly a decade, during which time new software has emerged. In this study, we used simulated aDNA reads from three different human populations to benchmark the performance of 30 distinct mapping strategies implemented across four different read mapping software—BWA-aln, BWA-mem, NovoAlign and Bowtie2—and quantified the impact of reference bias in downstream population genetic analyses. We show that specific NovoAlign, BWA-aln and BWA-mem parameterizations achieve high mapping precision with low levels of reference bias, particularly after filtering out reads with low mapping qualities. However, unbiased NovoAlign results required the use of an IUPAC reference genome. While relevant only to aDNA projects where reference population data are available, the benefit of using an IUPAC reference demonstrates the value of incorporating population genetic information into the aDNA mapping process, echoing recent results based on graph genome representations.


1971 ◽  
Vol 16 (3) ◽  
pp. 173-182 ◽  
Author(s):  
Gavin Shaw ◽  
Bernard Groden ◽  
Evelyn Hastings

The establishment, staffing and structure and observations made in the first year of the existence of coronary care in an intensive care unit in a general hospital are recorded. Two hundred and twenty eight patients were admitted during the year in whom the diagnosis of myocardial infarction was confirmed. There were 29 deaths in the unit and 14 deaths occurred in the wards of the hospital after discharge from the unit. 49.1 per cent of the patients were admitted within 4 hours of the onset of symptoms and the mean duration of stay in the unit was 86.5 hours. The type of arrhythmia detected in the unit, and the treatment given to the patients both before and after admission to the intensive care unit are described.


Hand Surgery ◽  
2004 ◽  
Vol 09 (01) ◽  
pp. 19-27 ◽  
Author(s):  
J. A. Casaletto ◽  
V. Rajaratnam

Surgical process re-engineering is a methodology where the entire surgical process is systematically analysed and re-designed. The process starts with mapping of the current process followed by in-depth analysis of the existing process. A new process is drafted with the aim of making the whole procedure more efficient. The new process is then discussed with all the staff involved in the operating room. Following implementation of the process, surgical process re-engineering should ideally be routinely carried out to continuously improve the procedure. We present an example of surgical process re-engineering which we carried out on the procedure of carpal tunnel release. We used carpal tunnel release as a model as it is a very common operation, with predictable intra-operative findings, and the patient is likely to benefit directly from procedure time reduction. A preliminary mapping of three procedures was done followed by a detailed timed mapping of five routine carpal tunnel decompression procedures. The mapped process was analysed in detail and a number of changes were made in the process. After implementing the new process, a further five procedures were mapped and timed again. In comparison to the original process, we achieved a reduction of 20% in the mean procedure time and a reduction of 42% in the number of steps from 66 to 37.


1991 ◽  
Vol 233 ◽  
pp. 211-242 ◽  
Author(s):  
R. W. Bilger ◽  
L. R. Saetran ◽  
L. V. Krishnamoorthy

Reaction in a scalar mixing layer in grid-generated turbulence is studied experimentally by doping half of the flow with nitric oxide and the other half with ozone. The flow conditions and concentrations are such that the chemical reaction is passive and the flow and chemical timescales are of the same order. Conserved scalar theory for such flows is outlined and further developed; it is used as a basis for presentation of the experimental results. Continuous measurements of concentration are limited in their spatial and temporal resolution but capture sufficient of their spectra for adequate second-order correlations to be made. Two components of velocity have been measured simultaneously with hot-wire anemometry. Conserved scalar mixing results, deduced from reacting and non-reacting measurements of concentration, show the independence of concentration level and concentration ratio expected for passive reacting flow. The results are subject to several limitations due to the necessary experimental compromises, but they agree generally with measurements made in thermal mixing layers. Reactive scalar statistics are consistent with the realizability constraints obtainable from conserved scalar theory where such constraints apply, and otherwise are generally found to lie between the conserved scalar theory limits for frozen and very fast chemistry. It is suggested that Toor's (1969) closure for the mean chemical reaction rate could be improved by interpolating between the frozen and equilibrium values for the covariance. The turbulent fluxes of the reactive scalars are found to approximately obey the gradient model but the value of the diffusivity is found to depend on the Damköhler number.


2017 ◽  
Vol 30 (11) ◽  
pp. 775 ◽  
Author(s):  
Víctor Patricio Díaz-Narváez ◽  
Ana María Erazo Coronado ◽  
Jorge Luis Bilbao ◽  
Farith González ◽  
Mariela Padilla ◽  
...  

Introduction: The controversy over the presence of empathic decline within the course in students of medicine, dentistry and health sciences in general, has not fully been studied. This controversy could be partially solved if massive studies of empathy levels are made in similar cultural, social and economic contexts.Material and Methods: Empathy levels within the course were studied in eighteen dental schools from six countries in Latin America (2013). The mean of the empathy levels were used to study the behavior between first and fifth academic years. The values of empathy levels within the course were observed by applying the Jefferson Scale of Physician Empathy, the Spanish version. All these studies were cross-sectional. The value of means observed, were subjected to regression studies and further adjustment curves were obtained and the coefficient of determination were calculated.Results: Six different models of behavior were observed, which found that five of them suffer empathic decline within the course, but with different final results: in some the decline persists until the fifth academic year and in others, this decline ‘recovers’ persistently until the fifth academic year. The sixth model is characterized by a constant and persistent increase of levels of empathy within the course until the last academic year.Discussion: There are six different models for the behavior of means of levels of empathy within the course evaluated by a common methodology in eighteen dental schools from six countries of Latin America. These findings support the existence of variability of empathic response and a comprehensive approach is needed to find the causes that give rise to this variability.Conclusion: In dental students of Latin America, there is variability in the behavior of the distribution in means between the academic years of the dentistry schools examined in this study.


1761 ◽  
Vol 52 ◽  
pp. 182-183

Having measured the diameter of Venus, on the sun, three times, with the object-glass micrometer, the mean was found to be 58 seconds; and but 6/10 of a second, the difference of the extremes.


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