Multilocus hybrid zone (HZ) studies predate genomics by decades. The power of early methods is becoming apparent and now large datasets are commonplace. Relating introgression along a chromosome to evolutionary process is challenging: although reduced introgression regions may indicate speciation genes, this pattern may be obscured by asymmetric introgression of linked invasive genes. Further, HZ movement may form salients and leave islands in its wake. Barton's concordance was proposed 24 years ago for assessing introgression where geographic patterns are complex. The geographic axis of introgression is replaced with the hybrid index. We compare this, a recently proposed genomic clines approach, and two-dimensional (2D) geographic analyses, for 24 X chromosome loci of 2873 mice from the central-European house mouse HZ. In 2D, 14 loci show linear contact, seven precisely matching previous studies. Four show introgression islands to the east of the zone, suggesting past westward zone movement, two show westward salients. Barton's concordance both recovers and refines this information. A region of reduced introgression on the central X is supported, despite X centromere-proximal male-biased westward introgression matching a westward 2D geographic salient. Genomic clines results are consistent regarding introgression asymmetries, but otherwise more difficult to interpret. Evidence for genetic conflict is discussed.

• MeSH
• chromozom X genetika   MeSH
• druhová specificita MeSH
• genetická variace MeSH
• hybridizace genetická MeSH
• myši genetika   MeSH
• populační genetika MeSH
• rozmnožování MeSH
• savčí chromozomy genetika   MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši genetika   MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• hodnotící studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Německo MeSH

BACKGROUND: A cytogenetic analysis of the new local triploid population of the caryophyllidean tapeworm Atractolytocestus huronensis, a unique parthenogenetic species with the ability to colonise new regions, was performed to understand the inner structure of its chromosome complement. METHODS: A karyotype analysis was carried out using classical Giemsa staining and C-banding combined with fluorescent DAPI staining. A hypothesis that triplets are composed from three homologue chromosomes of approximately the same length and same centromere position was tested statistically for multiple dependent variables using a non-parametric Friedman's ANOVA. The chromosomal location of ribosomal DNA clusters within the nucleolar organization region (NORs) and telomeric (TTAGGG)n sequences were detected by fluorescent in situ hybridization (FISH). Chromosomes were subjected to AgNO3 staining in order to determine whether the rDNA sites represent active NORs. RESULTS: The cytogenetic analysis confirmed the karyotype composed from eight chromosome triplets (3n = 24) as well as the existence of a pair of NORs located on each chromosome of the second triplet. Six NORs varied their activity from cell to cell, and it was reflected in the numbers of nucleoli (from 1 to 5). A huge morphological diversification of homologue chromosomes was originally detected in six out of eight triplets; the homologue elements differed significantly either in length and/or morphology, and some of them carried discernible interstitial telomeric sequences (ITSs), while the end telomeres were minute. The heterochromatin bands with high AT content varied irregularly, and the course of aberrant spermatogenesis was evident. CONCLUSIONS: Diversification of homologues is a unique phenomenon very likely caused by the long-term absence of a recombination and consequential accumulation of chromosome rearrangements in the genome of A. huronensis during species evolution. Unalterable asexual reproduction of the tapeworm, along with international trade in its host (carp), is facilitating its ongoing spread.

• MeSH
• Cestoda klasifikace   genetika   fyziologie   MeSH
• chromozomy MeSH
• kapři parazitologie   MeSH
• karyotypizace MeSH
• nemoci ryb parazitologie   MeSH
• rozmnožování MeSH
• spermatocyty cytologie   MeSH
• triploidie MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Jedním z nejdůležitějších nezávislých prognostických faktorů u nemocných s mnohočetným myelomem je nález specifi ckých aberací. Klasická cytogenetická analýza založená na analýze mitotických preparátů je u nemocných s mnohočetným myelomem limitovaná nízkou proliferační aktivitou plazmatických buněk. Molekulárně cytogenetické metody, zejména technika interfázní fluorescenční hybridizace in situ (FISH), je relativně rychlá, citlivá a vysoce specifi cká metoda, která při použití vhodných centromerických či lokusově specifi ckých DNA sond umožňuje detekovat početní a strukturní chromozómové odchylky v nedělících se jádrech interfázních buněk. Na rozdíl od leukémií je u mnohočetného myelomu správné využití techniky FISH podmíněno separací nádorových buněk či identifi kací plazmatických buněk v kostní dřeni. Práce shrnuje principy, výhody i omezení klasické a molekulární cytogenetiky a jejich modifi kací používaných při vyšetřování cytogenetických změn u mnohočetného myelomu. Jsou prezentovány nejčastější typy početních a strukturních chromozómových změn vyskytujících se v karyotypu nemocných s mnohočetným myelomem a jejich prognostický význam.

The presence and type of chromosomal abnormalities belong among the most important independent prognostic factors in patients with multiple myeloma. Classical cytogenetics based on the analysis of mitotic fi gures is often diffi cult due to the low proliferative index of malignant plasma cells. In order to circumvent this pitfall, molecular cytogenetics methods especially interphase fl uorescence in situ hybridization (FISH) with centromeric or locus specifi c DNA probes have been developed to study the most frequent numerical and structural chromosomal abnormalities observed in myeloma. The main difference to leukemias is that interphase FISH in myeloma needs to be coupled with plasma cell identifi cation in the bone marrow specimens. The aim of this article is to summarize the principles, impact and limits of classical and molecular cytogenetic methods and their modifi cations used for the routine identifi cation of cytogenetic abnormalities in multiple myeloma. We discuss the most common types of chromosomal aberrations in multiple myeloma and their prognostic importance.

• MeSH
• chromozomální aberace MeSH
• cytogenetické vyšetření * metody   MeSH
• hybridizace in situ fluorescenční metody   MeSH
• kostní dřeň MeSH
• lidé MeSH
• mnohočetný myelom * diagnóza   genetika   patologie   MeSH
• molekulární biologie metody   MeSH
• plazmatické buňky cytologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH

Charcot-Marie-Tooth (CMT) disease is a heterogeneous disorder of the peripheral nervous system that collectively affects approximately 1 in 2,500 individuals, thus making it the most common inherited neurologic disorder. X-linked inheritance may account for 10-20 % of CMT neuropathy. We report a Czech family with a 30-year-old woman affected by CMT since the age of 10 years, originally as an isolated case. Nerve conduction study (NCS) showed demyelinating neuropathy, and DNA testing revealed a novel heterozygous gap junction beta-1 protein (GJB1) mutation c.784_786delTA. The same mutation, but surprisingly in heterozygous state, was subsequently found in her subjectively healthy father and later also in one of her sisters but not in her two other sisters. NCS showed intermediate type of motor and sensory neuropathy in these two females manifesting heterozygotes and normal results in the other healthy sisters and one brother, all without the c.784_786delTA mutation. The father has a phenotype milder than his daughter and has only subclinical signs of CMT. The index female patient had normal karyotype 46, XX, and normal FISH for centromeric X chromosome. We concluded that the proband's father is a heterozygote due to the somatic mosaicism for the GJB1 mutation in his leukocytes (detected by DNA sequencing) and also in his germ cells as confirmed by the unexpectedly different genotypes in his four daughters. Quantitative analysis revealed a mutated signal in 25:75 allele proportion of mutated to healthy allele in the mosaic father. This study has important consequences for genetic counseling and prognosis in CMTX1 families.

• MeSH
• Charcotova-Marieova-Toothova nemoc diagnóza   genetika   MeSH
• dospělí MeSH
• geny vázané na chromozom X MeSH
• heterozygot * MeSH
• konexiny genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mozaicismus * MeSH
• periferní nervy patofyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Research Support, N.I.H., Extramural MeSH
• Geografické názvy
• Česká republika MeSH

The widely distributed ray-finned fish genus Carassius is very well known due to its unique biological characteristics such as polyploidy, clonality, and/or interspecies hybridization. These biological characteristics have enabled Carassius species to be successfully widespread over relatively short period of evolutionary time. Therefore, this fish model deserves to be the center of attention in the research field. Some studies have already described the Carassius karyotype, but results are inconsistent in the number of morphological categories for individual chromosomes. We investigated three focal species: Carassius auratus, C. carassius and C. gibelio with the aim to describe their standardized diploid karyotypes, and to study their evolutionary relationships using cytogenetic tools. We measured length (q+plength) of each chromosome and calculated centromeric index (i value). We found: (i) The relationship between q+plength and i value showed higher similarity of C. auratus and C. carassius. (ii) The variability of i value within each chromosome expressed by means of the first quartile (Q1) up to the third quartile (Q3) showed higher similarity of C. carassius and C. gibelio. (iii) The fluorescent in situ hybridization (FISH) analysis revealed higher similarity of C. auratus and C. gibelio. (iv) Standardized karyotype formula described using median value (Q2) showed differentiation among all investigated species: C. auratus had 24 metacentric (m), 40 submetacentric (sm), 2 subtelocentric (st), 2 acrocentric (a) and 32 telocentric (T) chromosomes (24m+40sm+2st+2a+32T); C. carassius: 16m+34sm+8st+42T; and C. gibelio: 16m+22sm+10st+2a+50T. (v) We developed R scripts applicable for the description of standardized karyotype for any other species. The diverse results indicated unprecedented complex genomic and chromosomal architecture in the genus Carassius probably influenced by its unique biological characteristics which make the study of evolutionary relationships more difficult than it has been originally postulated.

• MeSH
• chromozomy genetika   MeSH
• diploidie MeSH
• fylogeneze MeSH
• genetická variace genetika   MeSH
• genom genetika   MeSH
• hybridizace in situ fluorescenční metody   MeSH
• kapři genetika   MeSH
• karas zlatý genetika   MeSH
• karyotyp MeSH
• karyotypizace metody   MeSH
• mapování chromozomů metody   MeSH
• polyploidie MeSH
• ryby genetika   MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• DNA genetika   MeSH
• genetické jevy MeSH
• genom MeSH
• geny fyziologie   MeSH
• proteiny genetika   MeSH
• RNA genetika   MeSH
• Publikační typ
• monografie MeSH

• Konspekt
• Obecná genetika. Obecná cytogenetika. Evoluce
• NLK Obory
• genetika, lékařská genetika

• MeSH
• genetika MeSH

• Konspekt
• Obecná genetika. Obecná cytogenetika. Evoluce
• NLK Obory
• genetika, lékařská genetika