Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure.

The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45%) patients with aspermia, 19 (24%) patients with azoospermia and 25 (31%) patients with severe oligoasthenoteratozoospermia. In total 30% males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

We present the first comprehensive report on the distribution and genotype-phenotype correlations of CF-causing mutations in Western Ukraine (former Galicia). The 2184insA mutation was identified in 17 unrelated CF patients, 2 of whom are homozygotes for this allele. This mutation is associated with the classical form of CF.

[Androgen receptor CAG gene polymorphism in men with azoospermia and oligozoospermia in Ukraine].

The number of CAG repeats of exon 1 of AR gene was determined in a group of 228 infertile males with azoospermia (n = 68) and oligozoospermia (n = 160) as well as in control group (124 proven fathers) by fluorescent polymerase chain reaction amplification followed by fragment analysis on automated fluorescent analyzer "A.L.F-express".

[Y-chromosome microdeletions as a prognostic marker of male infertility].

The results of molecular-genetic study of Y-chromosome microdeletions in men with spermatogenesis failure and in patients with cryptorchism are presented. The molecular-genetic studies of regions AZFa, AZFb, AZFc in STS loci - sY84, sY86, sY127, sY134, sY254, sY255 and SRY gene have been performed. Y-chromosome microdeletions were detected in 13,3% infertile men with spermogram failure.

Prognostic characteristics of surgical stage I endometrial adenocarcinoma.

Purpose: To evaluate and correlate the expression of pathologic characteristics, flow cytometric DNA content analysis, and estrogen and progesterone receptor levels with survival in patients with surgical Stage I endometrial carcinoma.

Methods And Materials: Hospital tumor registry records were surveyed, and this identified 232 patients diagnosed with endometrial adenocarcinoma between July 1, 1989, and December 30, 1993. DNA content analysis was performed on either paraffin-embedded or fresh tissue samples.