Research Notes : A somatic approach to soybean genetics

For the past five years, our laboratory has been attempting to establish a system of somatic cell genetics for soybean. Although our results are far from complete, they are sufficiently encouraging to suggest that such a system will be practical and that it should be possible to construct a complete genetic. map within a few years. The rapidity with which this can be done relies in part on the somatic genetics discussed in this report and in part on a molecular genetic analysis which is now underway

Use of thin plastic films at cryogenic temperatures

Commercially available plastic film materials that remain flexible at cryogenic temperatures and resist failures caused by folds and wrinkles created during expulsion were investigated for use in expulsion bladders for liquefied gases. Compatible adhesive systems, fabrication techniques, and results of impact and dynamic loading tests are summarized

Fine mapping a locus controlling leg morphology in the domestic dog

The domestic dog offers a remarkable opportunity to disentangle the genetics of complex phenotypes. Here, we explore a locus, previously identified in the Portuguese water dog (PWD), associated with PC2, a morphological principal component characterized as leg width versus leg length. The locus was initially mapped to a region of 26 Mb on canine chromosome 12 (CFA12) following a genome-wide scan. Subsequent and extensive genotyping of single-nucleotide polymorphisms (SNPs) and haplotype analysis in both the PWD and selected breeds representing phenotypic extremes of PC2 reduced the region from 26 Mb to 500 kb. The proximity of the critical interval to two collagen genes suggests that the phenotype may be controlled by cis-acting mechanisms

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses

Anemia in children aged 6–59 months was significantly associated with maternal anemia status in rural Zimbabwe

Globally, anemia is a public health problem affecting mostly women of reproductive age (WRA, n = 452) and children aged 6–59 months (n = 452) from low- and lower-middle-income countries. This cross-sectional study assessed the prevalence and determinants of anemia in WRA and children aged 6–59 months in rural Zimbabwe. The venous blood sample was measured for hemoglobin utilizing a HemoCue machine. Anthropometric indices were assessed and classified based on World Health Organization standards. Socioeconomic characteristics were assessed. The median (±inter quartile range (IQR)) age of WRA was 29 ± 12 years and that for children was 29 ± 14 months. The prevalence of anemia was 29.6% and 17.9% in children and WRA, respectively, while the median (±IQR) hemoglobin levels were 13.4 ± 1.8 and 11.7 ± 1.5 g/dl among women and children, respectively. Multiple logistic regression analysis was used to assess determinants of anemia. Anemia in children was significantly associated with maternal anemia (odds ratio (OR) = 2.02; 95% CI 1.21–3.37; p = .007) and being a boy (OR = 0.63; 95% CI 0.41–0.95; p = .029), while anemia in WRA was significantly associated with the use of unimproved dug wells as a source of drinking water (OR = 0.36; 95% CI 0.20–0.66; p = .001) and lack of agricultural land ownership (OR = 0.51; 95% CI 0.31–0.85; p = .009). Anemia is a public health problem in the study setting. The positive association between maternal and child anemia reflects the possibility of cross-generational anemia. Therefore, interventions that focus on improving preconceptual and maternal nutritional status may help to reduce anemia in low-income settings

Anemia in children aged 6-59 months was significantly associated with maternal anemia status in rural Zimbabwe.

Globally, anemia is a public health problem affecting mostly women of reproductive age (WRA, n = 452) and children aged 6–59 months (n = 452) from low- and lower-middle-income countries. This cross-sectional study assessed the prevalence and determinants of anemia in WRA and children aged 6–59 months in rural Zimbabwe. The venous blood sample was measured for hemoglobin utilizing a HemoCue machine. Anthropometric indices were assessed and classified based on World Health Organization standards. Socioeconomic characteristics were assessed. The median (±inter quartile range (IQR)) age of WRA was 29 ± 12 years and that for children was 29 ± 14 months. The prevalence of anemia was 29.6% and 17.9% in children and WRA, respectively, while the median (±IQR) hemoglobin levels were 13.4 ± 1.8 and 11.7 ± 1.5 g/dl among women and children, respectively. Multiple logistic regression analysis was used to assess determinants of anemia. Anemia in children was significantly associated with maternal anemia (odds ratio (OR) = 2.02; 95% CI 1.21–3.37; p = .007) and being a boy (OR = 0.63; 95% CI 0.41–0.95; p = .029), while anemia in WRA was significantly associated with the use of unimproved dug wells as a source of drinking water (OR = 0.36; 95% CI 0.20–0.66; p = .001) and lack of agricultural land ownership (OR = 0.51; 95% CI 0.31–0.85; p = .009). Anemia is a public health problem in the study setting. The positive association between maternal and child anemia reflects the possibility of cross-generational anemia. Therefore, interventions that focus on improving preconceptual and maternal nutritional status may help to reduce anemia in low-income settings

Miscarriage and stillbirth following maternal Zika virus infection in nonhuman primates.

Zika virus (ZIKV) infection is associated with congenital defects and pregnancy loss. Here, we found that 26% of nonhuman primates infected with Asian/American ZIKV in early gestation experienced fetal demise later in pregnancy despite showing few clinical signs of infection. Pregnancy loss due to asymptomatic ZIKV infection may therefore be a common but under-recognized adverse outcome related to maternal ZIKV infection

A Simple Genetic Architecture Underlies Morphological Variation in Dogs

The largest genetic study to date of morphology in domestic dogs identifies genes controlling nearly 100 morphological traits and identifies important trends in phenotypic variation within this species

ТРАНСФОРМАЦИЯ И РАССЕЯНИЕ ПОВЕРХНОСТНЫХ ВОЛН НА АКУСТИЧЕСКОЙ НАГРУЗКЕ ДЛЯ УЛЬТРАЗВУКОВОГО КОНТРОЛЯ И ИЗМЕРЕНИЙ. Ч. 1. Скользящая граница акустического контакта

for the enhancement and improvement of ultrasonic methods evaluation and measurements. The purpose of this work is to determine the influence of the geometric parameters of the acoustic load body and its position on the coefficients of reflection and propagation of the Stoneley and Rayleigh waves and to identify the possibility of using the results of the study for practical applications.Based on the analysis of the acoustic path and the experimental data, the relationship between the measured amplitude parameters and the coefficients of the propagation and reflection of surface waves, as well as the reflectivity of the contact region of the load body in the form of a prism through the sliding boundary, which reaches up to ≈ 32–34 дБ, is established. For the first time, the dependence of these coefficients on the inclination angle of one of the prism lateral faces in the range of 0 ± 45°, dimensionless thickness of the contact layer (0–0,05) and its orientation relative to the acoustic axis.It is established that these coefficients are mainly maximal when the prism is rectangular. The coefficient of reflectivity in the hard contact of bodies is more than an order of magnitude less, and the coefficients of wave propagation – comparable in magnitude. The prospects of using the results of the study to evaluate the quality of adhesion of materials during welding, soldering, gluing, detection of defects in hardto-reach places, as well as to determine the physical and mechanical properties of metals by the proposed method of creating a reference signal are shown.Эффекты трансформации и распространения волн Рэлея и Стоунли представляют значительный интерес для расширения возможностей и совершенствования методов ультразвукового контроля и измерений. Цель данной работы заключалась в установлении влияния геометрических параметров тела акустической нагрузки и его положения на коэффициенты отражения и прохождения волны Стоунли и Рэлея и выявлении возможности использования результатов исследования для практических приложений.На основе анализа акустического тракта и данных эксперимента установлена связь между измеряемыми амплитудными параметрами и коэффициентами прохождения и отражения поверхностных волн, а также отражательной способностью области контакта тела нагрузки в виде призмы через скользящую границу, которая достигает ≈ 32–34 дБ. Впервые определены зависимости указанных коэффициентов от угла наклона одной из боковых граней призмы в диапазоне 0 ± 45°, безразмерной толщины контактной прослойки (0–0,05) и ее ориентации относительно акустической оси.Установлено, что эти коэффициенты преимущественно максимальны, когда призма прямоугольная. Коэффициент же отражательной способности при жестком контакте тел более чем на порядок меньше, а коэффициенты прохождения сравнимы по величине. Показана перспективность использования результатов исследования для контроля качества сцепления материалов при сварке, пайке, склейке, выявления дефектов в труднодоступных местах, а также для определения физико-механических свойств металлов с помощью предложенного способа создания опорного сигнала.