The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal STY and no adrenal failure.
The phenotypic structure of the population of Archips podana in the region of the town of Skierniewice is typical for this species in the central part of Poland. Males of phenotype "A" prevail. The index of the relation in the abundance of males of pheno- type "B" to the individuals of phenotype "A" is 0.01. Forty percent of males caught by sticky traps did not copulate previously. In order to increase the catching of non-copulative males, the knowledge of the phenotype composition of the population and the use of multi-component attractants are necessary.
The genus Plectranthus belongs to the family Lamiaceae is found in wild and cultivated condition. In the present work, the cultivars of Plectranthus forskohlii have been collected from Tamil Nadu, Kerala and Karnataka at different places. The accessions collected from Karnataka showed high tuber size, length and volume when compared to accessions collected from Tamil Nadu and Kerala. The most significant observation was made in Karnataka and Tamil Nadu cultivar accessions which were grown in the same soil in field condition have much branched root tuber with significant fresh weight as compared with accessions from Kerala. The Kerala accessions were observed with less diffused root tuber with low fresh weight. On the basis of the present research, it was concluded that the phenotypic variations present in leaf, stem and root characters might be due to some genetic heritable variation which may exist in the accessions collected from different locality, and this require further study with respect to their genotypic nature of Plectranthus forskohlii.
The phenotype in 19 tobianoleopard ponies has been described. The tobiano pattern has been identified in them according to the arrangement of white and dark areas, sharp and smooth edges of the areas, rather big white markings on heads, white legs or large markings on the legs and sometimes wall eyes. The leopardspotted pattern has been recognised thanks to the dark leopard spots of the base colour or darker, the roaned or frosted areas emerging from white patches or occupying the whole dark patches, jagged patch edges, fragments of mottled skin, eyes with visible sclera and striped hooves. Sometimes, only the visible sclera or a blurred part of the patch edge has indicated the presence of the leopardspotted pattern.
Shoot tips from in vitro plants of four rose species were cryopreserved by the droplet vitrification method. Optimized conditions involved exposure to loading solution for 20 min, then treatment with plant vitrification solution (PVS2) for 20 min (Rosa agrestis, R. canina and R. dumalis) or 30 min (R. rubiginosa) followed by freezing in liquid nitrogen. Survival rate ranged from 78.3 to 95.1%, depending on the species. Regrowth rate of shoot tips was 50.5% for R. agrestis, 63.2% for R. rubiginosa, 71.4% for R. dumalis and 78% for R. canina. The preculture of donor plants in a medium with 0.25 цЫ sucrose facilitated the isolation of shoot tips and increased regrowth rate after cryopreservation. Plant regeneration was carried out in Murashige and Skoog medium with 1 цЫ 6-benzylaminopurine, 1.5 цЫ gibberellic acid and 0.087 M sucrose. Plants regenerated from cryopreserved shoot tips did not display morphological alterations in comparison with non-cryopreserved shoot tip - derived plants.
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The aim of our study was to evaluate cellular content in induced sputum in chronic obstructive pulmonary disease (COPD) in relation to the degree of airway obstruction, macrophage count, and phenotype. We compared the proportion of macrophages and cells expressing the following markers: CD11b, CD14, CD54, and CD71 in induced sputum obtained from patients with mild-to-moderate and severe COPD (n=29)], asymptomatic smokers (n=18), and nonsmokers (n=18). The differential cell count and macrophage phenotypes were examined in induced sputum by immunocytochemistry. We observed a greater proportion of neutrophils and eosinophils and an elevated macrophage count in patients with COPD and in smokers in comparison with nonsmokers. Macrophages in patients with severe airway obstruction were characterized by a significantly elevated expression of CD11b and CD14 markers. There were higher proportions of macrophages with expression of CD11b, CD14, CD54, and CD71 in induced sputum of smokers in comparison with nonsmokers. We concluded that macrophages are the cells involved in the inflammatory process caused by smoking in COPD. The macrophage phenotype with elevated CD11b and CD14 expressions was associated with severe airflow limitation.
We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).
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The knowledge of concentration, modification and interaction of proteins is fundamental in determining the phenotype of living organisms. Plasma, the primary clinical specimen, contains numerous and diverse proteins. The functions of these proteins are as manifold as the diversity of the protein themselves. Many of them have been largely used for many years as biomarkers of diseases and indicators of the physiological functions. The study of plasma proteome promises to be a significant advance in various areas of biological and clinical research. Two-dimensional polyacrylamide gel electrophoresis is considered as a primary tool in separating thousand of plasma proteins. This approach enables comparing normal and diseased samples revealing differently expressed proteins. Other proteomic techniques suitable for plasma analysis such as protein microarrays are now either established or are still being improved. This article briefly reviews the application of two-dimensional electrophoresis and the current status of technical aspects for plasma proteome.
Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.
Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations.
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