Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини
Aims. Evolutionary accumulated mutant alleles that cause human diseases are segregated part of the genetic load in human. One approach to estimate the segregation part of the genetic load in humans is not existed. The objectives of the study – to develop and propose the approaches for segregation co...
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| Опубліковано в: : | Фактори експериментальної еволюції організмів |
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| Дата: | 2013 |
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Інститут молекулярної біології і генетики НАН України
2013
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| Цитувати: | Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини / Г.В. Макух, О.З. Гнатейко // Фактори експериментальної еволюції організмів: Зб. наук. пр. — 2013. — Т. 13. — С. 319-322. — Бібліогр.: 9 назв. — укр. |
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Макух, Г.В. Гнатейко, О.З. 2021-02-17T15:42:28Z 2021-02-17T15:42:28Z 2013 Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини / Г.В. Макух, О.З. Гнатейко // Фактори експериментальної еволюції організмів: Зб. наук. пр. — 2013. — Т. 13. — С. 319-322. — Бібліогр.: 9 назв. — укр. 2219-3782 https://nasplib.isofts.kiev.ua/handle/123456789/177997 Aims. Evolutionary accumulated mutant alleles that cause human diseases are segregated part of the genetic load in human. One approach to estimate the segregation part of the genetic load in humans is not existed. The objectives of the study – to develop and propose the approaches for segregation component of genetic load characterizing. Methods. The data on the distribution of alleles and genotypes of MTHFR, MTR, MTRR, FV, FII, PAI-1, IGF2, HFE, CFTR, SMN, PAH, NBN AZF genes and Y-chromosome haplotypes among the inhabitants of the Western region of Ukraine have been composed and examined. Results. The segregated part of the genetic load was defined by establishing the distribution and characteristics of the spectrum of mutations that are phenotyply manifested at different stages of ontogenesis in the form of human diseases. It has been found that CFTR gene mutation 2184insA is the second most frequent allele among Cystic Fibrosis patients from Ukraine. It has been proved that AZFc partial deletions are not only a polymorphism variant but a genetic factor of men spermatogenesis disorders. It has been described the relationship between Y-chromosome haplotypes and AZFc region partial deletions: haplogroup N increases the risk of b2/b3 partial deletion, and the haplotype R1a1 increases the risk of gr/gr partial deletion. Conclusions. It has been developed and applied the diagnostic approach that includes an analysis of maternal and fetal genotype in case of spontaneous abortions, the study of the frequency of heterozygous carriers of the most common autosomal recessive diseases and the analysis of genetic factors of impaired spermatogenesis in men. Key words: genetic load, mutation, human diseases, genetic testing. uk Інститут молекулярної біології і генетики НАН України Фактори експериментальної еволюції організмів Генетика людини та медична генетика Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини Approaches for the defining of segregation part of genetic load in human Article published earlier |
| institution |
Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| collection |
DSpace DC |
| title |
Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини |
| spellingShingle |
Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини Макух, Г.В. Гнатейко, О.З. Генетика людини та медична генетика |
| title_short |
Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини |
| title_full |
Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини |
| title_fullStr |
Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини |
| title_full_unstemmed |
Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини |
| title_sort |
розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини |
| author |
Макух, Г.В. Гнатейко, О.З. |
| author_facet |
Макух, Г.В. Гнатейко, О.З. |
| topic |
Генетика людини та медична генетика |
| topic_facet |
Генетика людини та медична генетика |
| publishDate |
2013 |
| language |
Ukrainian |
| container_title |
Фактори експериментальної еволюції організмів |
| publisher |
Інститут молекулярної біології і генетики НАН України |
| format |
Article |
| title_alt |
Approaches for the defining of segregation part of genetic load in human |
| description |
Aims. Evolutionary accumulated mutant alleles that cause human diseases are segregated part of the genetic load in human. One approach to estimate the segregation part of the genetic load in humans is not existed. The objectives of the study – to develop and propose the approaches for segregation component of genetic load characterizing. Methods. The data on the distribution of alleles and genotypes of MTHFR, MTR, MTRR, FV, FII, PAI-1, IGF2, HFE, CFTR, SMN, PAH, NBN AZF genes and Y-chromosome haplotypes among the inhabitants of the Western region of Ukraine have been composed and examined. Results. The segregated part of the genetic load was defined by establishing the distribution and characteristics of the spectrum of mutations that are phenotyply manifested at different stages of ontogenesis in the form of human diseases. It has been found that CFTR gene mutation 2184insA is the second most frequent allele among Cystic Fibrosis patients from Ukraine. It has been proved that AZFc partial deletions are not only a polymorphism variant but a genetic factor of men spermatogenesis disorders. It has been described the relationship between Y-chromosome haplotypes and AZFc region partial deletions: haplogroup N increases the risk of b2/b3 partial deletion, and the haplotype R1a1 increases the risk of gr/gr partial deletion. Conclusions. It has been developed and applied the diagnostic approach that includes an analysis of maternal and fetal genotype in case of spontaneous abortions, the study of the frequency of heterozygous carriers of the most common autosomal recessive diseases and the analysis of genetic factors of impaired spermatogenesis in men.
Key words: genetic load, mutation, human diseases, genetic testing.
|
| issn |
2219-3782 |
| url |
https://nasplib.isofts.kiev.ua/handle/123456789/177997 |
| citation_txt |
Розробка підходів для характеристики сегрегаційної складової генетичного тягаря у людини / Г.В. Макух, О.З. Гнатейко // Фактори експериментальної еволюції організмів: Зб. наук. пр. — 2013. — Т. 13. — С. 319-322. — Бібліогр.: 9 назв. — укр. |
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2025-11-24T11:40:21Z |
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2025-11-24T11:40:21Z |
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| fulltext |
319
stem cells and multipotent adult progenitor cells // Immunol. Cell Biol. – 2013. – Vol. 91, 1. – . 32–39.
3. . . : . – .: . ,
2010. – 691 .
4. . ., . ., . ., . .
in vitro // . – : , 2011. – . 11. – .
493–498.
5. . ., . ., . ., . ., . .
4BL6 in vitro //
. – : , 2012. – . 3. – . 313–318.
6. Morange M. The scientific legacy of Jacques Monod // Research in Microbiology. – 2010. – Vol. 161. – . 77–81
p.
KUSHNIRUK V.O., RUBAN T.P., LUKASH L.L.
Institute of Molecular Biology and Genetics of NAS of Ukraine
Ukraine, 03680, Kyiv, Zabolotnogo str., 150, e-mail: kushniruk_v_o@ukr.net
MORPHOLOGICAL AND GROWTH PECULIARITIES OF NEW HUMAN CELL LINE 4BL
Morphology of cells and growth curve are important characteristics of cell line, so the aim of this research
was to study these peculiarities. Methods. We investigated original cell line 4BL, obtained from peripheral
blood of healthy donor, which was successfully passed through the Heyflick limit. Methods of cell cultiva-
tion and standard cytological methods were used. Results. Cell line 4BL and its clones consist of two main
types of cells: fibroblast-like and epithelioid. Cells have non-random distribution on the surface of culture
dish and form cycle-like structures. These properties indirectly denote about stem potential of these cells,
what have been confirmed by special investigations. Growth curves had graded character: virtually absence
of lag-phase, two periods of exponential growth with phase of growth impairment between them, virtually
absence of stationary phase and two peaks with maximum quantity of cells and accordingly two-step de-
creasing. Conclusions. Fibrgoblast-like and epithelioid cells are two main morphological types of cell line
4BL, so as it’s clones 1, 2 and 3. Ability to form cycle structures at the surface of culture dish was observed.
Growth curves had graded character.
Key words: human cell line, growth curves, stem cells.
. ., . .
« »
, 79008, , . , 31 , e-mail: makukh.h@ihp.lviv.ua
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,
15,3 % .
-
AZFc -
gr/gr – 3,43 %, b2/b3 – 3,71 %,
b1/b3 – 0,29 % sY1201 –
0,6 % .
-
AZFc R1a1 (28 %),
-
, 46 % R1a1.
-
19 Y- . -
Y- ,
R1a1 (18 %), R1a1 (18 %) I2a
(19 %). -
, R1a1
,
( =20,09, 95 %
: 2,44–165,57, =0,0004),
N- ( =11,05,
95 % : 1,21–101,2, = 0,019). ,
AZFc -
,
-
. R1a1 Y- -
AZFc gr/gr, N -
b2/b3.
-
MTHFR, MTR, MTRR, FV, FII, PAI-1, IGF2,
HFE, CFTR, SMN, PAH, NBN, AZF,
Y- -
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-
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-
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.
1. Genetics // World Health Organization [ ]: . – :
http://www.who.int/topics/genetics/en ( : 20.02.2012).
2. . . . , , , /
. . , . . // – . . – .: , 2005. – . 40–
50.
3. Phelps F.M. IV. A model for the evolution of the genome: the effect of stochasticity on genetic loads // IMA J Math
Appl Med Biol. – 1995. – Vol. 12 (1). – P. 1–11.
4. . . – // . – 1993. – . 9, 2. –
. 80–111.
5. . . : / . . . – . : , 2003. – 448 .
6. Harpending H., Cochran G. Genetic diversity and genetic burden in humans / H. Harpending, // Infect Genet Evol. –
2006. – Vol. 6, 2. – P. 154–162.
7. . ., . . : . . . – . : . ., 2003. – 206 .
8. Online Mendelian Inheritance in Man (OMIM) [ ] // The National Center for Biotechnology
Information: [ ]. – : http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim ( :
02.03.12 ).
9. . ., . ., . . . -
: , // . – 2011.
– . 47, 11. – . 1523–1535.
MAKUKH H.V, HNATEYKO O.Z.
«Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine»
Ukraine, 79008, Lviv, Lysenko, 31, e-mail: makukh.h@ ihp.lviv.ua
APPROACHES FOR THE DEFINING OF SEGREGATION PART OF GENETIC LOAD
IN HUMAN
Aims. Evolutionary accumulated mutant alleles that cause human diseases are segregated part of the genetic
load in human. One approach to estimate the segregation part of the genetic load in humans is not existed.
The objectives of the study – to develop and propose the approaches for segregation component of genetic
load characterizing. Methods. The data on the distribution of alleles and genotypes of MTHFR, MTR,
MTRR, FV, FII, PAI-1, IGF2, HFE, CFTR, SMN, PAH, NBN AZF genes and Y-chromosome haplotypes
among the inhabitants of the Western region of Ukraine have been composed and examined. Results. The
segregated part of the genetic load was defined by establishing the distribution and characteristics of the
spectrum of mutations that are phenotyply manifested at different stages of ontogenesis in the form of human
diseases. It has been found that CFTR gene mutation 2184insA is the second most frequent allele among
Cystic Fibrosis patients from Ukraine. It has been proved that AZFc partial deletions are not only a
polymorphism variant but a genetic factor of men spermatogenesis disorders. It has been described the
relationship between Y-chromosome haplotypes and AZFc region partial deletions: haplogroup N increases
the risk of b2/b3 partial deletion, and the haplotype R1a1 increases the risk of gr/gr partial deletion.
Conclusions. It has been developed and applied the diagnostic approach that includes an analysis of maternal
and fetal genotype in case of spontaneous abortions, the study of the frequency of heterozygous carriers of
the most common autosomal recessive diseases and the analysis of genetic factors of impaired
spermatogenesis in men.
Key words: genetic load, mutation, human diseases, genetic testing.
|