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Biomedical subjects

M Jungerman

Publications and source records attributed to M Jungerman.

8 recordsLinked to original sources

Application of microsatellite markers for monitoring of reconstitution pattern in patients after bone marrow transplantation/peripheral blood progenitor cell transplantation.

We present data on application of microsatellite markers for detection of complete vs. mixed chimerism in individuals after bone marrow transplantation (BMT) and peripheral blood progenitor cell transplantation (PBPCT). Genotypes of the peripheral blood or bone marrow cells of three donor/recipient pairs were studied at several microsatellite loci. In two cases we identified complete chimerism in recipients' peripheral blood and bone marrow after transplantation. These two patients were alive with no symptoms of disease relapse and/or transplant rejection long time after BMT or PBPCT. In the third patient we observed mixed chimerism with the prevalence of donor's genotype while she was alive and well and the prevalence of recipient's genotype when she relapsed and required interferonotherapy. Results of our molecular studies correlated with the patients' clinical outcome. We show that molecular detection of mixed chimerism may be used for prediction of relapse in patients after BMT or PBPCT.

Adolescent↗

HLA class II DRB1, DQA1 and DQB1 polymorphisms in the Polish population from Wielkopolska.

HLA DRB1, DQA1 and DQB1 alleles were determined by DNA PCR-SSO typing in a sample of 99 individuals originating from Wielkopolska (midwestern Poland). A high number of alleles (38 DRB1, 8 DQA1 and 14 DQB1) was detected at each locus, many of them presenting notable frequencies in this population. The three HLA loci are thus characterized by very high heterozygosity levels (93% for DRB1, 85% for DQA1, and 88% for DQB1), which confirms the results found for other European populations. A total of 6 DRB1-DQA1-DQB1 haplotypes are detected with an estimated frequency higher than 5%, namely, DRB1*1501-DQA1*0102-DQB1*0602, DRB1*0701-DQA1*0201-DQB1*0201, DRB1*0101-DQA1*0101-DQB1*0501, DRB1*1101-DQA1*0501-DQB1*0301, DRB1*03011-DQA1*0501-DQB1*0201, and DRB1*1301-DQA1*0103-DQB1*0603. A genetic distance analysis between the Polish and other world populations tested for HLA class II indicates that the Wielkopolska community is close to geographically close, rather than linguistically related populations from Europe. More generally, a good agreement between genetics and geography is found for DRB1 and DQB1 polymorphisms in Europe, suggesting that these two loci are highly informative for assessing historical relationships among humans.

Alleles↗

Application of non-radioactive methods of DNA detection in analysis of human genetic disorders.

We have applied two non-radioactive methods for detection of unique sequences in human genome: 1 polymerase chain reaction, 2 hybridization with digoxigenin-deoxyuridine 5-triphosphate labeled probes. With the polymerase chain reaction technique we were able to amplify short segments of genes coding for coagulation factors VIII and IX. Electrophoretical analysis of products of polymerase chain reaction enabled us to detect deletions causing hemophilia A or B. To analyse deletions in dystrophin gene, the most frequent cause of Duchenne muscular dystrophy, we have amplified several different fragments of this gene simultaneously. We have studied restriction fragment length polymorphism closely linked to the cystic fibrosis locus with digoxigenin-deoxyuridine 5 -triphosphate labeled probe p3.11 with sensitivity comparable to methods involving the use of radioisotopes.

Cystic Fibrosis↗