Genetic and morphometric characteristics of Korean wild mice (KWM/Hym) captured at Chuncheon, South Korea / 한국실험동물학회지

Laboratory inbred mice are used widely and commonly in biomedical research, but inbred mice do not have a big enough gene pool for the research. In this study, genetic and morphometric analyses were performed to obtain data on the characteristics of a newly developing inbred strain (KWM/Hym) captured from Chuncheon, Korea. All of five Korean wild male mice have the zinc-finger Y (ZfY) gene. Also, all of 19 Korean wild mice used in this analysis have the AKV-type murine leukemia virus gene, indicating that Korean wild mice might be Mus musculus musculus. To identify the genetic polymorphism in KWM/Hym, SNP analysis was performed. In a comparison with 28 SNP markers, there was a considerable difference between KWM/Hym and several inbred strains. The homogeneity between KWM/Hym and the inbred strains was as follows: C57BL/6J (39.3%), BALB/c AJic (42.9%), and DBA/2J (50%). KWM/Hym is most similar to the PWK/PhJ inbred strain (96.4%) derived from wild mice (Czech Republic). To identify the morphometric characteristics of KWM/Hym, the external morphology was measured. The tail ratio of male and female was 79.60±3.09 and 73.55±6.14%, respectively. KWM/Hym has short and agouti-colored hairs and its belly is white with golden hair. Taking these results together, KWM/Hym, a newly developing inbred mouse originated from wild mouse, might be use as new genetic resources to overcome the limitations of the current laboratory mice.

Anonimato e segredo na reprodução humana com participação de doador: mudanças em perspectivas / Anonymity and secrecy in human reproduction with donor participation: shifts in perspectives

As tecnologias reprodutivas, ao separar a sexualidade da reprodução, interferiram não somente nas relações entre os sexos, mas também nas relações de filiação, possibilitando o surgimento de configurações familiares decorrentes do acesso a material genético de terceiros (doadores de óvulos, sêmen ou embrião). O segredo e o anonimato que sempre envolveram os doadores de gametas têm sido desafiados. Nos últimos vinte anos, diversos países alteraram sua legislação adotando a identidade aberta do doador de material genético. A possibilidade de conhecer e ter acesso a esta identidade (chegando à maioridade) ou mesmo a busca por meios irmãos pode ser uma realidade em muitos países para crianças nascidas por meio do acesso à tecnologia reprodutiva. O artigo enfatiza a questão do segredo e do anonimato envolvendo o uso de material genético de terceiros em tecnologias reprodutivas. A discussão é explorada por meio do debate ocorrido no Reino Unido relativo à abolição do anonimato e suas implicações sob a perspectiva dos doadores, dos casais demandantes e da criança concebida. O estudo reflete ainda sobre as concepções de família envolvidas nessa discussão.

Reproductive technologies, when separating sexu ality from reproduction, interfered not only in the relationships between the sexes, but also in the relationships of filiation, enabling the emergence of family settings due to the access to genetic ma terial from others (egg, semen or embryo donors). The secrecy and anonymity that have always in volved gamete donors have been challenged. In the last twenty years, various countries changed their legislation, adopting the policy of open identity of the donor of the genetic material. The possibility to know and have access to this identity (when reach ing adulthood) or even the search for half-brothers can be a reality in many countries for children born through access to reproductive technology. The article emphasizes the matter of secrecy and ano nymity involving the use of genetic material from others in reproductive technologies. The argument is set up through the debate in the United Kingdom concerning the abolition of the anonymity and its implications under the perspective of donors, claim ant couples and the child. The study also reflects on the conceptions of family involved in this debate.

Recent Advances in i-Gene Tools and Analysis: Microarrays, Next Generation Sequencing and Mass Spectrometry.

Recent advances in technology and associated methodology have made the current period one of the most exciting in molecular biology and medicine. Underlying these is an appreciation that modern research is driven by increasing large amounts of data being interpreted by interdisciplinary collaborative teams which are often geographically dispersed. The availability of cheap computing power, high speed informatics networks and high quality analysis software has been essential to this as has the application of modern quality assurance methodologies. In this review, we discuss the application of modern ‘High-Throughput’ molecular biological technologies such as ‘Microarrays’ and ‘Next Generation Sequencing’ to scientific and biomedical research as we have observed. Furthermore in this review, we also offer some guidance that enables the reader as to understand certain features of these as well as new strategies and help them to apply these i-Gene tools in their endeavours successfully. Collectively, we term this ‘i-Gene Analysis’. We also offer predictions as to the developments that are anticipated in the near and more distant future.

Estimation of haplotypes based on DNA pooling / 中南大学学报(医学版)

DNA pooling, a fast and economic study strategy, is widely used in areas of scientific research. In spite of various limits, researchers are making their efforts to improve DNA pooling toward a more perfect direction, including allele frequency detection and estimation of haplotypes. In haplotype estimation, more and more analyzing Methods originated from the expectation-maximization algorithm have appeared, with improved accuracy and practicality, such as HaploPool algorithm and PoooL algorithm.

Prevention and Treatment of School Myopia

Myopia is the most common refractive error throughout the world. Exact and relative etiologies of myopia have not been investigated in detail, although the high prevalence rate of myopia in school children has been well documented. Patients with myopia must endure the physical and financial burden of spectacles or contact lenses throughout their lives. The National Eye Institute estimated that the costs of refractive eye examinations amount to $1 billion annually, with another $1.5 billion spent on eyeglasses each year. The age of onset of myopia is frequently between 5 to 15 years. There has been a dramatic increase in the prevalence rates of myopia over the past decades in Korea and other parts of Asia. The prevalence rate was 8~15% in 1970s, 23% in 1980s, 38% in 1990s, and 46.2% in 2000s in Korean school children. The remarkable increase in Asian school children suggests that life style risk factors during the school periods may have a great impact on the development of school myopia and the overall population prevalence rate of myopia. Because the gene pool has not changed significantly over the past decades, the rapid increase of the prevalence rates of myopia has been attributed to increases in near-work activities and environmental factors. Atropine is effective in preventing myopia by a non-accommodative mechanism. Atropine is a broad-band muscarinic antagonist that binds to all five identified muscarinic receptors. Animal and clinical studies have shown that the M1-selective muscarinic antagonist, pirenzepine, is effective in reducing axial length enlargement and preventing myopia.

Frequency of uterine malformation among women in a restricted gene pool community. A retrospective cross-sectional study in la crete, Canada

This random retrospective cross-sectional study was done to determine the incidence of uterine malformation in 4 groups of women desiring to conceive during their reproductive years, all of them living in La Crete, a community in Northern Alberta, Canada, with endogamous marriage practices in a 500 year old restricted gene pool. During 2003-2006, eight hundred women, suspected of having uterine malformation, were scanned using 2-D abdominal and transvaginal sonography [TVS]. A sub-group of 156 patients was identified with suspected uterine malformations and referred for further diagnostic investigation, including MRI, 3-D sonography, hysterosalpingography, hysteroscopy and laparoscopy. This group included 30 women without previous pregnancies [Group 1], 31 women with previous pregnancies and live births [fertile] [Group 2], 40 women with live births and more than 2 miscarriages [Group 3] and 55 women with recurrent miscarriages [infertile] [Group 4]. The overall frequency of uterine malformations was recorded at 19.5% in La Crete women. Ninety five women with recurrent or some miscarriages had more uterine malformation than the other groups. The incidence in Groups 3 and 4 [infertile] was 60.8% and 39.2% in the fertile Groups 1 and 2. The p <0.01 was significant at 95% confidence interval. This study has provided new insights into the increasing number of uterine malformations in the population of La Crete. It was 19.5%, 5.5 times higher than that of the general population of [0.1% to 3.5%]. This might indicate an increase in uterine malformations among women in a restricted gene pool community. A combination of TVS, hysterosalpingography, 3-D sonography and MRI are necessary for the precise classification of uterine malformations. Uterine malformations are not rare, but may be increasingly related to consanguinity. The finding of uterine malformation is more frequent in patients with recurrent miscarriages, especially women with septated, unicornuate, or didelphys uteri

Estudos florísticos no município de Presidente Figueiredo, Amazonas. Brasil: I. famílias Annonaceae e Gnetaceae / Floristic studies in township of Presidente Figueiredo, Amazonas. Brazil: I. families Annonaceae and Gnetaceae

O Município de Presidente Figueiredo, no Estado do Amazonas, foi visitado durante três anos consecutivos, de 1996 a 1999, com o objetivo de se obter amostras botânicas da área, para estudos no Subprojeto "Elaboração de Revisões e Monografias Taxonômicas" com a finalidade de se elaborar uma Flórula para o Município. As coleções feitas neste período encontram-se depositadas no acervo do Herbário do INPA e as informações gerais sobre os taxa aqui estudados foram complementadas com as obtidas das coleções feitas anteriormente por outros pesquisadores. Para a família Annonaceae Juss. (Magnoliopsida) foram identificadas 39 espécies distribuídas em 15 gêneros. Destes, Duguetia A. St. Hill., Guatteria Ruiz & Pavon, Annona L., Unonopsis R.E.Fries e Xylopia L.destacaram-se pela diversidade em espécies, sendo os dois primeiros representados por oito e seis espécies, respectivamente, e os três últimos, com quatro espécies. A família Gnetaceae Lindl. (Gimnospermae) está representada no Município apenas pelo gênero Gnetum L., com a espécie G. leyboldii Tul.

Population genetic analysis of cat populations from Mexico, Colombia, Bolivia, and the Dominican Republic: identification of different gene pools in Latin America.

In this paper we identify new genetic profiles of eight Latin American cat populations. In addition, we combine data from the present study and previously published data on 70 other American and European populations to discuss (1) the points of introduction of mutant alleles for cat coat phenotypes from Europe into Latin America, (2) the heterozygosity levels at these loci in the current Latin American cat populations, (3) the level of genetic heterogeneity among Latin American cat populations, and how this compares with levels found in North American and European cat populations, and (4) how many different cat gene pools are currently present in Latin America. We also include in our purview historical records of human migrations from Europe to and within the Americas. Our analyses clearly support the view that the current genetic profiles and structuring of cat populations in Latin America can be largely explained by the historical migration patterns of humans.

Greater genetic variability in Argentine Creole than in Thoroughbred horses based onserum protein polymorphisms

Genetic polymorphism was analyzed for five blood proteins: albumin - Al, esterase - Es, a1B-glycoprotein - Xk, transferrin - Tf and hemoglobin - Hb in 200 Thoroughbred (TB) and 124 Argentine Creole (AC) horses. Of the five systems examined, Tf and Hb were not in Hardy-Weinberg equilibrium in either breed and Es was not in equilibrium in the Creole breed. Genetic variability, estimated as average heterozygosity, was higher in AC (H = 0.585 ± 0.131) than in TB (H = 0.353 ± 0.065). The genetic differentiation between these two populations (FST) was 0.109. Thus, of the total genetic differences between breeds, the proportion of genetic variation attributable to breed differences was about 10%; the remaining 90% was due to individual variation within breeds. The high degree of genetic variability seen in Argentine Creole horses could be a consequence of natural selection. Selection of TB through the centuries has most likely modified the gene pool of the ancestral population, with a consequent reduction in variability at certain loci. Probably, different mechanisms exist for maintaining polymorphism at these loci in TB and in AC horses. Heterozygosity may have played a fundamental role in adaptation.

Genetic variability in common wheat germplasm based on coefficients of parentage

The characterization of genetic variability and an estimate of the genetic relationship among varieties are essential to any breeding program, because artificial crosses among less similar parents allow a larger segregation and the combination of different favorable alleles. Genetic variability can be evaluated in different ways, including the Coefficient of Parentage (COP), which estimates the probability of two alleles in two different individuals being identical by descent. In this study, we evaluated the degree of genetic relationship among 53 wheat genotypes, and identified the ancestor genotypes which contributed the most to the current wheat germplasm, as a prediction of the width of the genetic base of this cereal. The results revealed a mean COP of 0.07 and the formation of 22 similarity groups. The ancestor genotypes Ciano 67 and Mentana were those which contributed the most to the current wheat germplasm. According to the COP analyses, the genetic base of wheat rests on a small number of ancestral genotypes

High-resolution analysis of Y-chromosomal polymorphisms reveals signatures of population movements from Central Asia and West Asia into India.

Linguistic evidence suggests that West Asia and Central Asia have been the two major geographical sources of genes in the contemporary Indian gene pool. To test the nature and extent of similarities in the gene pools of these regions we have collected DNA samples from four ethnic populations of northern India, and have screened these samples for a set of 18 Y-chromosome polymorphic markers (12 unique event polymorphisms and six short tandem repeats). These data from Indian populations have been analysed in conjunction with published data from several West Asian and Central Asian populations. Our analyses have revealed traces of population movement from Central Asia and West Asia into India. Two haplogrops, HG-3 and HG-9, which are known to have arisen in the Central Asian region, are found in reasonably high frequencies (41.7% and 14.3% respectively) in the study populations. The ages estimated for these two haplogroups are less in the Indian populations than those estimated from data on Middle Eastern populations. A neighbour-joining tree based on Y-haplogroup frequencies shows that the North Indians are genetically placed between the West Asian and Central Asian populations. This is consistent with gene flow from West Asia and Central Asia into India.

Ontogenia del reconocimiento T de antígenos de histocompatibilidad propios: influencias parenterales / Ontogeny of the T recognition of self histocompatibility antigens: parenteral influences

Se investigó la existencia de influencias parentales que pudieran afectar el recononcimiento de los antígenos de histocompatibilidad propios en la progenie. Se pudo observar que 1) tanto las células de hígado fetal como los esplenocitos y timocitos de hbridos F1 recién nascidos diferen en su capacidad de regular las reacciones alorreactivas parentales dirigidas a antígenos de histocompatibilidad propios según éstos sean de origen materno o paterno. Son capaces de suprimir - hasta el día 5 después del nacimiento- las reacciones sistémicas y locales de GvH inducidas con células maternas mientras que no suprimen aquellas desencadenadas con células paternas; 2) la falta de actividad supresora correlaciona con la aparición de células tímicas con actividad contrasupresora; 3) los esplenocitos de híbridos F1 adultos recíprocos diferen significativamente en su capacidad para estimular la proliferación de células T en reacciones de cultivo mixto singeneico; 4) el amamantamiento de los híbridos F1 con hembras provenientes de la cepa paterna es capaz de inducir alteraciones permanentes en la capacidad estimulatorra de los esplenocitos; el patrón estimulatorio de los esplenocitos de híbridos anamantados por nodrizas de la cepa híbridos F1 recíprocos adultos diferen en su respuesta a antígenos convencionales presentados en el contexto de los antígenos la parentales, estando la lactancia centralmente involucrada. Se discuten los posibles mecanismos involucrados

Hereditary essential tremor in Buenos Aires, Argentina

Consideramos esta publicación como la primera sobre Temblor Esencial en América Latina. Todos nuestros pacientes eran inmigrantes o hijos de inmigrantes de los orígenes más comunes en nuestro país (España, Italia, Francia y Polonia). No se incluyeron pacientes indoamericanos. El reducido número de indoamericanos puros en Buenos Aires y sus alrededores debe tenerse en cuenta. El temblor hereditario esencial es entidad monosintomática, conocida durante más de cien años. Sus elementos más importantes se describen progresivamente aquí y también, las dificultades terapéuticas que presenta. Durante un período de quince años, los autores pudieron seleccionar un total de 16 familias, con 39 casos de temblor esencial, estudiados básicamente desde el punto de vista clínico. Esto nos permitió confirmar el carácter del temblor, de tipo rítmico (4 a 10 c/seg), preponderante en maños, especialmente en los dedos pulgar e índice, extensión del temblor a la boca, cabeza y eventualmente, a todo el cuerpo. La característica dominante y autosómica de la herencia también se demostró en nuestros pacientes. La edad de comienzo de esta entidad oscila entre los 20 y los 40 años, con una exacerbación en la quinta década de la vida. No hubo predominancia de ninguno de los sexos, ni de longevidad ni multiparidad. Esta enfermedad no produce la muerte y la incapacidad que acarrea no es muy importante. No parece existir una asociacicón entre esta entidad y otras enfermedades, excepto aquellas patologías desencadeantes como la tensión emocional y eventualmente, el alcoholismo como tratamiento aparente propuesto por el propio paciente para aliviar su sintomatología. La ubicación nosológica de esta enfermedad debe estar junto con los trastornos extrapiramidales, a pesar de los 5 casos existentes en la bibliografía mundial sobre anatomía patológica, los que no presentaron alteraciones tales que justificaran el temblor en el sistema nervioso central...