Relationship of human heterochromatin and congenital malformations

2020 ◽  
Vol 2 (3-4) ◽  
pp. 54-56
Author(s):  
Hasanova A.T. ◽  
Jafarova G.A.
Keyword(s):  
Congenital Malformations ◽  
Normal Karyotype ◽  
Chromosome 9 ◽  
Centromeric Heterochromatin ◽  
Chromosome 16 ◽  
Abnormal Karyotype ◽  
Abnormal Phenotype ◽  
The Family ◽  
Relationship Of ◽  
High Degree

Aim. The variability of centromeric heterochromatin of the chromosome pairs 1,9 and 16 was studied in material pro- vided by the Cytogenetic Counselling Centre. Materials and methods. The size of bands 1q12, 9q12 and 16q11 was classified as normal, larger, very large, narrow and pericentric inversion. The karyotypes under study were divided into four groups: (I) from persons with abnormal karyotype and abnor-mal phenotype, ( I I ) from persons with abnormal phenotype and normal karyotype, (III) from healthy nearest relatives (parents and sibs) of persons with abnormal phenotype and karyotype, (I V ) from normal healthy persons with normal phenotype and karyotype without any congenital malformations in the family history. Results. A different variability of centromeric hetero-chromatin of chromosomes 1 , 9 and 16 was observed. Quite a low variability was found in chromosome 16, while chromosomes 9 and 1 showed a high degree of variability, which was more accentuated in chromosome 9 than in chromo-some 1 . Conclusions. In all four groups there was a similar pattern of variability with the only exception in the group of nearest relatives of children with abnormal phenotype and karyotype where an unusually narrow band 1q12 was more fre- quently detected.

scholarly journals Verification of a syndrome with a high degree of genetic heterogeneity and clinical polymorphism

2020 ◽  
pp. 74-75
Author(s):  
В.А. Галкина ◽  
О.Л. Миронович ◽  
Р.А. Зинченко
Keyword(s):  
Congenital Malformations ◽  
High Performance ◽  
Molecular Genetic ◽  
Joubert Syndrome ◽  
Subsequent Pregnancy ◽  
Monogenic Diseases ◽  
The Family ◽  
Sporadic Cases ◽  
Phenotypic Features ◽  
High Degree

Наследственные синдромы множественных врожденных пороков развития (МВПР) - большая группа хромосомных и моногенных заболеваний, насчитывающая в настоящее время более 3-х тысяч форм. Диагностика и верификация синдромов МВПР часто бывает затруднительной в силу многообразия форм, межсемейного и внутрисемейного клинического полиморфизма, и при спорадических случаях заболевания наиболее достоверной будет при полном комплексе фенотипических признаков. Кроме того дифференциальная диагностика также может быть затруднена в силу схожести фенотипических признаков при разных синдромах. В подобных случаях проблему уточнения диагноза и решения вопроса о возможности проведения в семье пренатальной диагностики при последующей беременности может решить применение методов высокопроизводительного секвенирования ДНК (NGS). В результате NGS диагностирован редкий вариант синдрома Жубера, без молекулярно-генетической верификации диагностика была бы затруднительна. Нereditary syndromes of multiple congenital malformations (MCM) are a large group of chromosomal and monogenic diseases, currently reaching more than 3 thousand forms. Diagnosis and verification of MCM syndromes is often difficult due to the variety of forms, inter-family and intra-family clinical polymorphism, and in sporadic cases, the most reliable will be with a full set of phenotypic features. In addition, differential diagnosis can also be difficult due to the similarity of phenotypic features in different syndromes. In such cases, the use of high-performance DNA sequencing methods can solve the problem of clarifying the diagnosis and resolving the issue of whether prenatal diagnosis of the disease in the fetus can be carried out in the family during subsequent pregnancy. As a result, NGS diagnosed a rare variant of Joubert syndrome, without molecular genetic verification, diagnosis would be difficult.

Hubungan Sikap dan Karakteristik Pasangan Usia Subur (PUS) dengan Keikutsertaan dalam Program KB di Wilayah Kerja UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur

2020 ◽  
Vol 8 (2) ◽  
pp. 105-114
Author(s):  
Ainul Mardhiah ◽  
Nova Hasbani Prima Dewi ◽  
Aminy Aminy
Keyword(s):  
Family Planning ◽  
Family Planning Program ◽  
The Elderly ◽  
P Value ◽  
Planning Program ◽  
Elderly Age ◽  
Chi Square ◽  
Cross Sectional ◽  
The Family ◽  
Relationship Of

The family planning program also aims to improve the quality of the family in order to generate a sense of security, peace and hope of a better future in realizing the prosperity of birth and inner happiness. Allegedly the factor causing EFA participation in the family planning program is characteristic. The purpose of this research is to know the relationship of attitude and characteristic of Elderly Age Couple (PUS) with participation in family planning program at UPT Puskesmas Sungai Raya Sungai Raya District, East Aceh regency 2018. The research design used was analytic survey with cross sectional design. The population of this study is all Pairs Age of Fertile located in Work Area UPT Sungai Raya Public Health Service Center in January to December 2017 which amounted to 1897 people. Sampling using Slovin formula, obtained as many as 95 samples. The study was conducted from 7-17 July 2018 using questionnaires by interview. Statistical test using chi-square test. Result of research indicate that majority of fertile couple couples (PUS) participate in family planning program as much as 67 respondents (70,5%). Statistically there is relationship of attitude and characteristic of Elderly Age Couple (EFA) with non participation in family planning program in Working Area of UPT Puskesmas Sungai Raya Sungai Raya District of East Aceh Regency 2018 with p value <0,1. It is recommended that the family planning program holders in UPT Puskesmas Sungai Raya Sungai Raya District of East Aceh District to invite cross-sectoral figures to hold meetings to create mini workshop plans at least once a month to increase the participation of the Elderly Age Couple (PUS) in family planning programs. Keyword : Family Planning Program, Attitudes, CharacteristicsABSTRAKProgram KB juga bertujuan untuk meningkatkan kualitas keluarga agar dapat timbul rasa aman, tentram, dan harapan masa depan yang lebih baik dalam mewujudkan kesejahteraan lahir dan kebahagiaan batin. Diduga faktor yang menyebabkan ketidakikutsertaan PUS dalam program KB adalah karakteristik. Tujuan penelitian ini untuk mengetahui hubungan sikap dan karakteristik Pasangan Usia Subur (PUS) dengan keikutsertaan dalam program KB di Wilayah Kerja UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur tahun 2018. Desain penelitian yang digunakan adalah survei analitik dengan rancangan bedah lintang. Populasi dari penelitian ini adalah seluruh Pasangan Usia Subur yang berada di Wilayah Kerja UPT Puskesmas Sungai Raya pada bulan Januari sampai dengan Desember tahun 2017 yang berjumlah 1.897 orang. Pengambilan sampel menggunakan rumus Slovin, didapatkan sebanyak 95 sampel. Penelitian dilaksanakan dari tanggal 7-17 Juli tahun 2018 menggunakan kuesioner dengan cara wawancara. Uji statistik menggunakan uji chi-square. Hasil penelitian menunjukkan bahwa mayoritas Pasangan Usia Subur (PUS) ikut serta dalam program KB yaitu sebanyak 67 responden (70,5%). Secara statistik ada hubungan sikap dan karakteristik Pasangan Usia Subur (PUS) dengan ketidakikutsertaan dalam program KB di Wilayah Kerja UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur tahun 2018 dengan p value < 0,1. Sebaiknya pemegang program KB di UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur agar mengajak tokoh lintas sektor agar mengadakan pertemuan untuk membuat rencana loka karya mini setidaknya satu bulan sekali untuk meningkatkan keikutsertaan Pasangan Usia Subur (PUS) dalam program KB.Kata Kunci : Program KB, Sikap, Karakteristik

Morphological re-description and phylogenetic relationship of five myxosporean species of the family Myxobolidae infecting Nile tilapia

2017 ◽  
Vol 124 (3) ◽  
pp. 201-214 ◽  
Author(s):  
R Abdel-Gaber ◽  
F Abdel-Ghaffar ◽  
S Maher ◽  
AM El-Mallah ◽  
S Al Quraishy ◽  
...  
Keyword(s):  
Phylogenetic Relationship ◽  
Nile Tilapia ◽  
The Family ◽  
Relationship Of ◽  
Myxosporean Species

The Inscriptions on the Gravestones in the Croatian Villages of Slovakia, Chunovo and Jarovce: The Specificity of Mixing Graphics Systems

2019 ◽  
Vol 14 (1-2) ◽  
pp. 159-173
Author(s):  
Darya Yu. Vashchenko
Keyword(s):  
Foreign Language ◽  
Ethnic Group ◽  
Ethnic Groups ◽  
Native Language ◽  
Close Contact ◽  
Funerary Monuments ◽  
Traditional Spelling ◽  
The Family ◽  
High Degree ◽  
The Village

The article discusses the inscriptions on funerary monuments from the Croatian villages of Cunovo and Jarovce, located in the South of Slovakia, near Bratislava. These inscriptions reflect the complicated sociocultural situation in the region, which is particularly specific due to the fact that this territory was included to Slovakia’s territory only after 1946, while earlier the village was part of Hungary. In addition, the local Croatian ethnic group was actively in close contact with the German and Hungarian communities. At the same time, the orthographic norms of the literary Croatian, German, Hungarian, and Slovak languages, which could potentially be owned by the authors of the inscriptions, differ in many ways, despite the Latin alphabet used on all the gravestones. All this is reflected in the tombstones, representing a high degree of mixing codes. The article identifies the main types of fusion on the monuments: separate orthograms, writing the maiden name of the deceased in the spelling of her native language, the traditional spelling of the family name. In addition, the mixing of codes can be associated with writing feminitives, also order of name and surname within the anthroponym. Moreover, the settlements themselves represent different ethnic groups coexistence within the village. Gravestones from the respective cemeteries also differ from each other in the nature of the prevailing trend of the mixing codes. In Jarovce, where the ethnic groups live compactly, fusion is often presented as a separate foreign language orthograms. In Cunovo, where the ethnic groups constitute a global conglomerate, more traditional presents for a specific family spelling of the names on the monument.

CHILD-PARENT RELATIONS AS A FACTOR IN THE FORMATION OF PROFESSIONAL PREFERENCES IN PEDAGOGICAL DYNASTIES

2020 ◽  
Vol 2 (4) ◽  
pp. 126-130
Author(s):  
N. V. SHAMANIN ◽  
Keyword(s):  
Professional Development ◽  
The Family ◽  
The Individual ◽  
Relationship Of ◽  
The Relationship ◽  
Parent Child Relationships ◽  
Professional Preferences ◽  
Parent Child

The article raises the issue of the relationship of parent-child relationships and professional preferences in pedagogical dynasties. Particular attention is paid to the role of the family in the professional development of the individual. It has been suggested that there is a relationship between parent-child relationships and professional preferences.

Integrating Genetic Linkage Maps With Pachytene Chromosome Structure in Maize

Genetics ◽  
2004 ◽  
Vol 166 (4) ◽  
pp. 1923-1933 ◽  
Author(s):  
Lorinda K Anderson ◽  
Naser Salameh ◽  
Hank W Bass ◽  
Lisa C Harper ◽  
W Z Cande ◽  
...  
Keyword(s):  
Genetic Linkage ◽  
Chromosome Structure ◽  
Single Copy ◽  
Chromosome 9 ◽  
Linkage Maps ◽  
Cytogenetic Map ◽  
Recombination Nodules ◽  
Novel Approach ◽  
Genetic Linkage Maps ◽  
High Degree

Abstract Genetic linkage maps reveal the order of markers based on the frequency of recombination between markers during meiosis. Because the rate of recombination varies along chromosomes, it has been difficult to relate linkage maps to chromosome structure. Here we use cytological maps of crossing over based on recombination nodules (RNs) to predict the physical position of genetic markers on each of the 10 chromosomes of maize. This is possible because (1) all 10 maize chromosomes can be individually identified from spreads of synaptonemal complexes, (2) each RN corresponds to one crossover, and (3) the frequency of RNs on defined chromosomal segments can be converted to centimorgan values. We tested our predictions for chromosome 9 using seven genetically mapped, single-copy markers that were independently mapped on pachytene chromosomes using in situ hybridization. The correlation between predicted and observed locations was very strong (r2 = 0.996), indicating a virtual 1:1 correspondence. Thus, this new, high-resolution, cytogenetic map enables one to predict the chromosomal location of any genetically mapped marker in maize with a high degree of accuracy. This novel approach can be applied to other organisms as well.

scholarly journals Involvement of loop 5 lysine residues and the N-terminal β-hairpin of the ribotoxin hirsutellin A on its insecticidal activity

2016 ◽  
Vol 397 (2) ◽  
pp. 135-145 ◽  
Author(s):  
Miriam Olombrada ◽  
Lucía García-Ortega ◽  
Javier Lacadena ◽  
Mercedes Oñaderra ◽  
José G. Gavilanes ◽  
...  
Keyword(s):  
Active Sites ◽  
Structural Changes ◽  
The Other ◽  
Spatial Proximity ◽  
Ribonucleolytic Activity ◽  
The Family ◽  
Lysine Residues ◽  
Hirsutella Thompsonii ◽  
Close Spatial Proximity ◽  
High Degree

Abstract Ribotoxins are cytotoxic members of the family of fungal extracellular ribonucleases best represented by RNase T1. They share a high degree of sequence identity and a common structural fold, including the geometric arrangement of their active sites. However, ribotoxins are larger, with a well-defined N-terminal β-hairpin, and display longer and positively charged unstructured loops. These structural differences account for their cytotoxic properties. Unexpectedly, the discovery of hirsutellin A (HtA), a ribotoxin produced by the invertebrate pathogen Hirsutella thompsonii, showed how it was possible to accommodate these features into a shorter amino acid sequence. Examination of HtA N-terminal β-hairpin reveals differences in terms of length, charge, and spatial distribution. Consequently, four different HtA mutants were prepared and characterized. One of them was the result of deleting this hairpin [Δ(8-15)] while the other three affected single Lys residues in its close spatial proximity (K115E, K118E, and K123E). The results obtained support the general conclusion that HtA active site would show a high degree of plasticity, being able to accommodate electrostatic and structural changes not suitable for the other previously known larger ribotoxins, as the variants described here only presented small differences in terms of ribonucleolytic activity and cytotoxicity against cultured insect cells.

scholarly journals Interactions Between Chill-Hours and Degree-Days Affect Carpogenic Germination in Monilinia vaccinii-corymbosi

2001 ◽  
Vol 91 (1) ◽  
pp. 77-83 ◽  
Author(s):  
H. Scherm ◽  
A. T. Savelle ◽  
P. L. Pusey
Keyword(s):  
Laboratory Experiments ◽  
Field Experiments ◽  
Degree Days ◽  
Carpogenic Germination ◽  
Conditioning Period ◽  
Low Degree ◽  
Heating Degree Days ◽  
Relationship Of ◽  
High Degree ◽  
The Relationship

The relationship of cumulative chill-hours (hours with a mean temperature <7.2°C) and heating degree-days (base 7.2°C) to carpogenic germination of pseudosclerotia of Monilinia vaccinii-corymbosi, which causes mummy berry disease of blueberry, was investigated. In two laboratory experiments, pseudosclerotia collected from rabbiteye blueberry in Georgia were conditioned at 5 to 6°C for 26 to 1,378 h prior to placement in conditions favorable for germination and apothecium development. The number of chill-hours accumulated during the conditioning period affected the subsequent proportion of pseudosclerotia that germinated and produced apothecia, with the greatest incidence of carpogenic germination occurring after intermediate levels of chilling (≈700 chill-hours). The minimum chilling requirement for germination and apothecium production was considerably lower than that reported previously for pseudo-sclerotia from highbush blueberry in northern production regions. The rate of carpogenic germination was strongly affected by interactions between the accumulation of chill-hours and degree-days during the conditioning and germination periods; pseudosclerotia exposed to prolonged chilling periods, once transferred to suitable conditions, germinated and produced apothecia more rapidly (after fewer degree-days had accumulated) than those exposed to shorter chilling periods. Thus, pseudosclerotia of M. vaccinii-corymbosi are adapted to germinate carpogenically following cold winters (high chill-hours, low degree-days) as well as warm winters (low chill-hours, high degree-days). Results were validated in a combined field-laboratory experiment in which pseudosclerotia that had received various levels of natural chilling were allowed to germinate in controlled conditions in the laboratory, and in two field experiments in which pseudosclerotia were exposed to natural chilling and germination conditions. A simple model describing the timing of apothecium emergence in relation to cumulative chill-hours and degree-days was developed based on the experiments. The model should be useful for better timing of field scouting programs for apothecia to aid in management of primary infection by M. vaccinii-corymbosi.

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