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M Macek

Publications and source records attributed to M Macek.

At least 73 records · Page 4Linked to original sources
PubMed1990

[Experience with rapid molecular genetic diagnosis using the polymerase chain reaction].

The authors give an account of their experience with 1000 amplifications of DNA by the polymerase chain reaction for the prenatal diagnosis of cystic fibrosis. The method is demonstrated on examples of examinations of the informativity value and prenatal diagnosis in the first trimester of pregnancy in families with a 25% risk of cystic fibrosis, using J 3.11 (Msp I), met H (Msp I), KM 19 (Pst I), CS 7 (Hha I), Mp6d9 (Msp I), XV 2c (Taq I) probes. The authors summarize methodical check-up and safety measures to ensure the reliability of diagnoses made by the PCR method.

Cystic Fibrosis↗
PubMed1990

Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

beta-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of beta-mannosidosis. Further investigation of this gypsy family revealed beta-mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. beta-Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of beta-mannosidase were found in fibroblasts and/or plasma of the parents and one sister.

Adolescent↗
PubMed1990

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

This study analyses distribution patterns of the delta F508 mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene and the cystic fibrosis (CF)-linked marker loci MET, D7S23, D7S399, and D7S8 in a sample of 167 (116 complete) CF families from Bohemia and Moravia (Czechoslovakia). DNA typing was performed by polymerase chain reaction amplification, restriction analysis, and agarose or polyacrylamide gel electrophoresis. The frequency of the delta F508 mutation in this sample is 67% and the frequency of the B haplotype is 77.6% on CF chromosomes. Linkage disequilibrium was found between delta F508 and all markers tested.

Chromosome Deletion↗
PubMed1990

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.

We have measured the frequency of the delta F508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the delta F508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype.

Cystic Fibrosis↗
PubMed1990

The rapid molecular genetic diagnosis of cystic fibrosis by polymerase chain reaction: an experience report.

The authors report their experience with about two thousand DNA amplifications by polymerase chain reaction (PCR) in prenatal diagnosis of cystic fibrosis. The method is demonstrated on examples of diagnostic informativity and prenatal diagnosis examination in a family at 1 in 4 risk of the disease using closely CF-linked diagnostic polymorphisms: J3.11/MspI, MetH/MspI, CS7/HhaI, KM19/PstI, Mp6-d9/MspI and XV2c/TaqI, PCR methodology and safety precautions are discussed.

Cystic Fibrosis↗
PubMed1990

Cystic fibrosis marker testing in Bohemia with polymerase chain reaction.

Conditions for assessing KM-19 probe detected by Pst-1 restriction fragment length polymorphism (RFLP) by means of polymerase chain reaction were provided. Computer controlled mechanical arm with waterbaths and cloned heat-stable DNA polymerase was used. Results of KM-19 allelic frequencies on 90 cystic fibrosis chromosomes are presented. Allele two frequency was -0.833.

Alleles↗
PubMed1990

The experience with the foetal diagnosis of the cystic fibrosis in the second and first trimester.

The amniotic fluid activity of gamma glutamyl transpeptidase (GGT), leucine aminopeptidase (LAP) and alcaline phosphatase (AP) and disacharidases was examined in 66 pregnancies with the risk of cystic fibrosis (CF) in the 17th-21st weeks of gestation. So far 28 pregnancies continue. The prenatal diagnosis was confirmed in all so far delivered children or aborted foetuses if the GGT activity was higher than 400 U/1 (10th percentile) or lower than 190 U/1 (3rd percentile) in the 17th-18th weeks. The results of other microvillar and ultrasound examinations were consistent with it. From 3 pregnancies with GGT activity in the range of 3-5 percentiles and abnormal activities of other microvillar enzymes, the CF was confirmed only in one aborted foetus with meconium ileus and with abnormal ultrasound examination. In other 2 pregnancies with normal ultrasound, healthy children were delivered. In 3 pregnancies with the GGT in the range of 5-10 percentiles and abnormal other microvillar enzymes, one false negative GGT and ultrasound examination was disclosed. The other 2 aborted foetuses did not exhibit the signs of CF in necropsy examinations. The meconium ileus was found in 2/4 of aborted foetuses with GGT lower than 3 percentiles, abnormal activities of other microvillar enzymes and abnormal ultrasound examination. The ultrasound examination was correct in 2/10 of pregnancies with GGT lower than 3 percentiles or abnormal activities of other microvillar enzymes. The GGT examination in 19th-21st weeks provided similarly reliable diagnostic results. The importance of fetal karyotyping and ultrasound elimination of other severe congenital anomalies is pointed out for critical interpretation of microvillar enzyme activities testing.(ABSTRACT TRUNCATED AT 250 WORDS)

Cystic Fibrosis↗
PubMed1990

[Sex determination using the polymerase chain reaction method for amplification of DNA segments on the X and Y chromosomes].

The authors tested the rapid and accurate prenatal and postnatal diagnosis of sex by the method of amplification of specific portions of DNA of sex chromosomes. To ensure a maximum reliability of the diagnosis the authors recommend combined examination of specific sequences from the heterochromatin region of the long arm of the Y chromosome (Yq) and from alphoid satellite sequences of DNA from the pericentromeric portion of chromosome X and Y (Xc and Yc). For further improvement of the reliability the authors recommend to digest the Yc amplification product obtained by means of restriction endonucleases Msp I, Eco Ri and Hini I. Correct assessment of the diagnosis was confirmed in all examined subjects (12) from DNA and chorium.

Female↗
PubMed1989

AIDS-related beliefs and behaviours of Australian university students.

Parallel questionnaires that enquired into the beliefs and behaviours which related to the acquired immunodeficiency syndrome (AIDS) were administered by postal survey during August and September 1987 to two separate samples of students. Each sample comprised 300 students who were selected at random, were aged up to 30 years, and at the time were enrolled at The University of Sydney; the response rate was 70%. Results showed a high level of "correctness" of belief about AIDS and safer sexual practices. More than half the population had experienced sexual intercourse during 1987, 25% of whom had experienced sexual intercourse on a casual basis. A marked discrepancy was found between the knowledge of and the performance of safer sexual behaviours, as measured by two sets of key questions, which covered condom use in casual vaginal encounters and enquiry into a casual partner's history with regard to sexual experience, abuse of intravenous drugs and history of blood transfusions. A log-linear regression analysis showed no correlation between scores on the two sets of key questions on knowledge of safer sexual practices and the demographic variables of age, sex, sexual experience or religious commitment. It is suggested that an educational campaign that is directed at the problem of behavioural change will fail to be productive if it is focused narrowly on the knowledge of safer sexual techniques; in addition, it should take into account other attitudinal components, such as the perception of social pressures from peer-groups. Within this particular student population, the most-effective immediate stratagem may be to restructure the perceived personal and peer-group risks.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Results of second trimester prenatal diagnosis of cystic fibrosis in risk families.

Investigation of 17 children delivered after prenatal examination of amniotic fluid GGT was performed. GGT testing was carried out in the 17th-18th week of gestation. The development of children unaffected by cystic fibrosis was predicted. In all pregnancies, clinically healthy children with normal sweat chloride concentrations were delivered. Our results confirm the advantage of the examination of microvillar enzymes in amniotic fluid in the second trimester as a rather reliable method of fetal diagnosis of cystic fibrosis if it is impossible to use the molecular genetic methods in the first trimester.

Adult↗