[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].

Unlabelled: The aim of the study was to assess whether commercial kit QF-PCR can be used as the only method for rapic prenatal dia gnosis of chromosomes 13, 18, 21, X and Y aneuploidies, omitting cell culture and complete cyt6genetik analysis of fetal chromosomes.

Material And Methods: DNA from amniocytes (94 cases) and trophoblast cells (6 cases) was analyzed witt QF-PCR according to the manufacturer's protocol. The obtained products were separated using ABI 310 Genetic Analyzer and the resulting data were analyzed using GeneMarker software.

Vitamin D receptor gene polymorphisms in relation to the risk of colorectal cancer in the Polish population.

The protective effect of vitamin D against several cancers including colorectal cancer is modulated by the vitamin D receptor (VDR) and its ligand, the active form of vitamin D. VDR response has been found to play a role in various genes encoding proteins involved in crucial cellular pathways. Single nucleotide polymorphisms (SNPs) of the VDR gene that modulate its activity are located in the promoter region, exons 2-9, and their vicinity and also in the 3'UTR region.

Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

CHEK2 gen encodes cell cycle checkpoint kinase 2 that participates in the DNA repair pathway, cell cycle regulation and apoptosis. Mutations in CHEK2 gene may result in kinase inactivation or reduce both catalytic activity and capability of binding other proteins. Some studies indicate that alterations in CHEK2 gene confers increase the risk of breast cancer and some other malignancies, while the results of other studies are inconclusive.

[Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis].

Objective: In recent years, new possibilities of prenatal diagnosis have opened up, due to the development of techniques which guarantee shorter time of obtaining results. One of those methods, called Rapid-FISH (rapid fluorescence in situ hybridization), for detecting numerical aberrations of chromosomes 13, 18, 21, X and Y without culturing, enables to have the results in 2-5 days. The time necessary to obtain fetal karyotype result with the usage of the classical cytogenetic methods is about 2-3 weeks and depends mainly on the culture growth rate.

[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia].

Unlabelled: Mutations in cystic fibrosis transductance regulator gene (CFTR) are known to result in some forms of male infertility. An association between CFTR gene mutations and obstructive azoospermia in cystic fibrosis (CF) and in congenital unilateral and bilateral absence of vas deferens (CUAVD, CBAVD) has been proven. However, the role of CFTR gene mutations in the etiology of non-obstructive azoospermia, as well as in the regulation of spermatogenesis remains unsolved.

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.

The chromosome 4 inversion with breakpoints p13-p15q35 results in a recombinant 4 [rec(4)] chromosome with a partial 4p duplication/4q deletion in approximately 80% of the carriers' offspring. However, whether the recombinant 4p syndrome can be recognized as a clinical entity is still open to controversy. We report on two sisters diagnosed with rec(4) resulting in a partial 4p trisomy/4q deletion that was inherited from their mother, who is a carrier of inv(4)(p14q35).

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.

A cytogenetic analysis was performed on an 8-day-old girl, who was suspected of Cri du chat syndrome (CdCS) on the basis of a cat-like cry, despite her dysmorphic features not being characteristic of this syndrome. The cytogenetic analysis revealed a partial deletion of the short arm of chromosome 5, but did not allow precise specification of the break points. Fluorescence in situ hybridization (FISH) analysis, using the specific probe for CdCS, revealed two signals in all the cells analyzed.

Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients.

Genomic instability has long been recognized as the main feature of neoplasia and a factor modulating individual cancer susceptibility. There are attempts to find effective assays of both individual DNA repair capacity and genetic instability, and their relation to the cancer risk. Genetic predisposition plays an important role in the etiology and development of head and neck squamous cell carcinoma (HNSCC).