Biomedical subjects
Publications and source records attributed to T Mazurczak.
Results of mutation analysis in exon 11 of the CF gene have been presented. Using the SSCP technique 18 mutations (of four different types) were detected in cystic fibrosis patients of Polish origin. Thus, we were able to detect in exon 11 about 10% of all CF mutations occurring in the affected population examined.
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A new fluorogenic substrate, 4 methylumbelliferyl beta-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one.
Plasma and amniotic fluid amino acids were assayed in 20 women of genetic risk groups in the second trimester of pregnancy. The age of patients ranged from 19 to 38 years. Indication for amnio-puncture were: chromosomal aberration or neural tube defect in previous pregnancy or age of pregnant women over 35 years. Blood and amniotic fluid were obtained with transabdominal amnio-puncture performed routinely in prenatal diagnosis. Amino acids were assayed with ion exchange column chromatography, using automatic amino acids analyzer LKB 4400. The obtained results were compared with plasma and amniotic fluid amino acids patterns in healthy women at the same trimester of pregnancy. The comparison of plasma aminograms revealed increased concentrations (above 100%) of cystine and alanine in the examined group. In women with neural tube defect in previous pregnancy and in those over 35 years of age, increased proline, leucine and valine (above 50%) concentrations were found. Decreased concentrations of glutamic acid (about 60%) was detected in women with chromosomal aberration in previous pregnancy and in those older than 35 years. Amniotic fluid amino acid pattern showed in all three patients groups decreased values arginine and ornitine (amino acids of the urea cycle), and also of cystine and taurine. In women with neural tube defect in previous pregnancy and in those older than 35, decreased concentration of lysine, serine and leucine was found. Also in the above 2 groups increasing tendency in comparison to the values in healthy women was observed for alanine (30-40%) and asparagine (150-215%). No correlation was observed between particular amino acids plasma concentration and amniotic fluid in our patients. Ratios of plasma to the amniotic fluid (P/FA) amino acid concentrations were calculated for the examined group and compared with those in healthy pregnant women. While in the last population most of the analyzed scores is below 1 which points higher amino acid concentration in amniotic fluid than that in plasma, performed analysis revealed; an increase in P/AF ratio by 214% in the group of "neural tube defect" women, alanine, glutamine and ornitine P/AF ratios were 35-50% than the normal value. P/AF ratio for cystine by 176%, for tyrosine--100% and for ornitine and arginine--55-65% respectively higher than normal in patients of "chromosomal aberration". P/AF ratio for glutamine acid was decreased by about 50%. In patients examined because of age above 35 years, P/AF ratio for cystine was increased by 200%, for alanine by 125%, for proline, histidine, ornitine, phenylalanine, I-leucine and metionine were increased by 30%-50%.(ABSTRACT TRUNCATED AT 400 WORDS)
The structural gene coding for human arylsulfatase B (ARSB) has been assigned to chromosome 5 and then to 5p11-5qter by means of somatic cell hybridization. The somatic cell hybrids used in the present studies were derived from fusion experiments between Chinese hamster, a3 line (TK-) and human leukocytes from a patient carrying the reciprocal balanced translocation t (5;21) (q11;q22) according to the method described previously. About 90 independent hybrid clones were selected for further analysis. They were tested for the presence of human markers employing the methods routinely used. ARSB activity was checked upon as previously. Giemsa banding technique was used to identify human and hamster chromosomes in the hybrid cells. Human ARSB activity was detected in 12 hybrid clones; 6 of them appeared to be informative. Out of 78 clones negative for human ARSB, 3 containing the product of translocation, 5pter-5q11: 21q22-21qter were found. Human superoxide dismutase-1 (SOD1) activity, a marker for chromosome 21, was found in 27 clones. The informative hybrid clones both positive and negative for ARSB are presented in table I. Six informative clones retained the region 5q11-5qter as the only portion of chromosome 5 and they expressed the activity of human ARSB and hexosaminidase B (HEXB), a marker for 15q13. It seems worth-while to point out that human ARSB activity was found only in the hybrids which retained the product of the translocation carrying 5q11-5qter in high percentage of the cells.(ABSTRACT TRUNCATED AT 250 WORDS)
We analyzed DNA from 34 Polish and 63 Dutch cystic fibrosis (CF) patients and their families using the polymorphic markers XV2c and KM19, which are in linkage disequilibrium with the CF mutation. Strong linkage disequilibrium was found in the Dutch population sample, but the haplotypes of the Polish chromosomes showed a significantly less extreme disequilibrium. Our data and previous studies indicate that the highest degree of homogeneity of the CF defect and hence the best possible use of the XV2c/KM19/CF linkage disequilibrium for CF carrier detection/exclusion is in populations of northern European origin.
DNA analysis was used to determine heritability of the cystic fibrosis in the family in risk of this disease. It enabled to detect carriers of the cystic fibrosis gene in the examined family and created a basis of the early prenatal diagnosis in case of the planned pregnancy.
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Some results of the study of genetic counseling effectiveness, conducted in 1980-1981, are the subject of this paper. The main group under the study consisted of 187 families with the Down syndrome child, who in the period 1974-1979 visited the Genetics Clinic of NRIMC and received genetic counseling there. The relation between genetic counseling and the procreation sphere among the studied families is presented. Procreation plans have been analysed with special emphasis made on changes related to genetic counseling. The influence of this counseling as a factor reducing fear of having a child with a disease has been confirmed. It has been found that procreation plans have changed after the counseling especially among those women who did not plan pregnancy earlier. Some psychological aspects of genetic counseling as are essential for forming procreation attitudes of the consulting families have also been discussed.
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Longitudinal studies of physical development in the first year of life were carried out in the group of children born with low body weight. Results were compared with those obtained in the control group. The examined group consisted of 73 children born from single pregnancies in hospitals from families living in Wola district of Warsaw. Out of 73 children, 35 were born t term as small-for-date children (DW). Remaining 38 children were prematurely born (W). The control group (K) consisted of 40 children born in hospital at term, from single pregnancy, with body-weight at birth corresponding to foetal age (25-75 centiles). They came also from families living in Wola district. Analysis of physical development was based on the results of anthropometric measurements carried out at monthly intervals through the first year of life, considering required age tolerance, using standardized measuring methods and instruments. The principles of feeding, nursing, prophylaxis of rickets and iron deficiency as well as preventive vaccinations were the same for all children. Variability with age as well as monthly and yearly gains and the index of sexual dimorphism of the following parameters were analysed: body-weight, body-length, head and chest circumference thorax and head length, shoulders width, hip width. Longitudinal observation of these children through evaluation of growth increments made the analysis of the dynamics of somatic development possible. The analysis showed differences in physical development in the first year of life in children under examination. These differences concerned both the variability of separate traits with age, and the dynamics of development, development of sexual dimorphism index in relation to the control group. The differences ere also observed between the small-to-date and prematurely born children. Developmental differences ere noted among the children born with low body-weight dependent on the achieved foetal age at birth. No tendency in small-for-date infants to decrease the differences as compared to the control group was noted. This tendency was typical of the prematurely born children. The highest developmental rate was observed in prematurely born infants.(ABSTRACT TRUNCATED AT 400 WORDS)
In the Clinical Department of Metabolic Studies of the National Research Institute of Mother and Child the attempt was made to stimulate physical development of S-F-D infants through introducing modifications in standard feeding in order to make up for the deficits of foetal age. In the years 1970-1975, 118 infants were under observation: 44 out of this group, in the Clinical Department, 70 in the Outpatient Clinic of Infant Nutrition disorders, 4 were observed both in the Clinical Department and in the Outpatient Clinic. The control group of 40 S-F-D- infants was observed in the Child Outpatient Department of Wola Borough of Warsaw. Foetal age of S-F-D infants underwent anthropometric measurements, psychological and neurological examinations. Investigations of haematological and biochemical indices were also carried out. Physical development of children in 4 (S,G,H,C) dietary groups was observed and compared with the control group. Initial diet differed from the standard diet, used at the National Research Institute of Mothers and Child, by excluding gluten and by replacing saccharose with glucose. In other diets (G, H and C) milk formulas with different quantitative and qualitative protein and fat content were enriched with unsaturated fatty acids. Longitudinal analysis included 61 infants from single pregnancies which were put on regular and sufficiently long (5-12 months) diet. Evaluation of physical development was based on the analysis of mean values, increments and rate of growth of body--length, body weight, arm, scapular and abdominal skin-fold thickness. These data are presented in Tables I-IX, variate curves of individual features in Figures 1-9. Somewhat higher developmental indices were observed in the group of infants fed enriched formulas with unsaturated fatty acids. Growth rate of skin-fold thickness in group S, was extremely intensive all the first year through and decreasing physiological tendencies were not observed in 4th trimester of life.
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