BADANIA CYTOGENETYCZNE W PRAKTYCE KLINICZNEJ PDF

The proper performance of diagnosis followed by a specialist genetic advice for the couple significantly increases the chance of normal development of pregnancy in couples with abnormal karyotype. According to WHO, infertility is an inability to conceive after one year of regular unprotected sexual intercourse [1]. According to WHO, at least 3 consecutive miscarriages are defined as habitual abortions, but already 2 miscarriages are the indication for the cytogenetic testing of both partners. It is estimated that among couples who experience recurrent miscarriages, on average 3. While before the era of in vitro fertilization IVF and intracytoplasmic sperm injection ICSI , the determination of the type of chromosome anomaly did not play any significant role, now, in the period of developing assisted reproductive technologies, cytogenetic testing for the detection of chromosomal abnormalities has gained importance.

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Bal red. Elementy genetyki medycznej, PWN, , 4. Drewa, T. Ferenc red. Akademii Rolniczej w Poznaniu, 6. Akademii Rolniczej w Poznaniu, 7. Srebrniak, Tomaszewska A. PZWL, Additional information registration calendar, class conductors, localization and schedules of classes , might be available in the USOSweb system:.

Organized by: Faculty of Biology and Environmental Protection. Fundamentals of cytogenetics and molecular cytogenetic BGD This course has not yet been described After completion of the course student: - defines basic terms in the scope of common and molecular cytogenetics. FISH and molecular methods used in genome research of various species. Lecture: audiovisual presentation, explanations Classes: explanations, audiovisual presentation laboratory classes, practical classes.

Lecture: meeting minimum requirements based on written exem. Laboratory exercises: attendance required, pass. Definition and history of cytogentic research.

Chromosomes and their structure: karyotype, karyogram, ideogram. Structure of chromosomes: size and centromers location, division of chromosomes. Staining chromosomes using routine method and fluorescent dyes. Analysis of metaphase chromosomes, differentiation of particular chromosomes in metaphase plate. Estimation methods of cellular proliferation. Analysis of plant chromosmes. Chromosome number in various plant and animal species examples.

Evolutionary changeability of chromosomes selected examples. Chromosome races. Evolution of human chromosmes. Particular forms of chromosomes: polytene and lumpbrush chromosomes, chromosomes B, marker chromosomes, minichromosomes midget - their characterization, appearance and function.

Test systems in cytogenetic research: mathods in vivo, in vitro, and in situ. Cytogenetic results of DNA damage: clastogenic, turbogenic and physiological effects. Micronuclei, structural and number chromosomal aberration, sister chromatid exchange - mechanisms of origin. Rules of analysis of chromosomal aberration and micronuclei. Types of cell death. Morphological aspects of apoptosis and necrosis. Molecular cytogenetics - aim and range of research.

Relationship between taxonomy and evolutionism and usage in breeding. Basic methods- molecular - their usage in molecular cytogenetics. Restriction patterns.

Hybridization Southern and in situ. Tandem sequence repeats and intersperced sequence repeats. Tandem sequences coding and noncoding. Telomere sequences. CDNA paradox. DNA 2C and number and size of chromosomes. Nucleotype theory. Cytosine methylation and its changes during ontogensis. Epigenetic modification of histones H3 and H4. Molecular structure of chromosomes. Essential components of functional chromosomes eg.

Digestion in situ by restriction enzymes. Usage of sensitive enzymes to cytosine metylation and nick-translation in situ. Hibridization in situ as a method for localization various DNA. Number of the loci and chromosome number and DNA 2C content. In situ localization of interperced sequence repeats and non-coding tandem sequence repeats. Telomeres and molecular structure of centromeres and centromere chromatin. Molecular cytogenetics of particular ancestral diploidal species and established of them alloploidal species as an example of speciation Brassica - U triangle; Nicotiana tabacum.

Specific marker of chromosomes. Molecular and cytogenetic features of DNA - species-dependent, genome-dependent and genus-dependent. DNA endoreplication. Mechanisms regulating transition from mitotic cycle to endomitotic cycle. Endomitosis and endoreduplication. Other mechanisms of multilplication C DNA content. Levels of endoreduplication in various tissue and organs.

Methods of getting plant haploids. Basic knowledge of chromosome structure. Basic knowledge on cytology, cytobiochemistry and molecular biology.

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E2E100 PDF

Chromosom markerowy

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CHAKER ALOUI PDF

Cytogenetic testing in the assessment of female fertility

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