A new HaeIII polymorphism at the D21S13 locus

Summary DNA markers in the pericentromeric region of human chromosome 21 have shown linkage to a gene for Familial Alzheimer disease (FAD; St. George Hyslop et al. 1987). The limited informativeness of probes for the loci D21S13 and D21S16 have hindered precise mapping of the FAD locus and analysis of non-allelic heterogeneity in FAD (Schellenberg et al. 1988; St. George-Hyslop et al. 1987). We recently described a new EcoRII polymorphism at the D21S13 locus that was very informative in a large FAD pedigree (Pulst et al. 1990a, b). We now report another polymorphism for the D21S13 locus that further increases the informativeness of this locus.     

Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions.

Human chromosome 21 has been analyzed by pulsed-field gel electrophoresis using somatic cell hybrids containing limited regions of the chromosome and greater than 60 unique sequence probes. Thirty-three independent NotI fragments have been identified, totalling 43 million bp. This must account for essentially the entire long arm, and therefore gaps remaining in the map must be small. The extent of the pulsed-field map has allowed the direct correlation of the physical map with the cytogenetic map: translocation breakpoints can be unambiguously positioned along the long arm and the distances between them measured in base pairs. Three breakpoints have been identified, providing physical confirmation of cytogenetic landmarks. Information on sequence organization has been obtained: (i) 60% of the unique sequence probes are located within 11 physical linkage groups which can be contained in only 20% of the long arm; (ii) 9/21 genes are clustered within 4%; (iii) translocation breakpoints appear to occur within CpG island regions, making their identification difficult by pulsed-field techniques. This analysis contributes to the human genome mapping effort, and provides information to guide the rapid investigation of the biology of chromosome 21.     

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

We describe a large pedigree of individuals with autosomal dominant atrioventricular septal defect (AVSD). The pedigree includes affected individuals and individuals who have transmitted the defect but are not clinically affected. AVSDs are a rare congenital heart malformation that occurs as only 2.8% of isolated cardiac lesions. They are the predominant heart defect in children with Down syndrome, making chromosome 21 a candidate for genes involved in atrioventricular septal development. We have carried out a linkage study in the pedigree by using 10 simple-sequence polymorphisms from chromosome 21. Multipoint linkage analysis gives lod scores of less than -2 for the region of trisomy 21 associated with heart defects, which excludes a locus within this region as the cause of the defect in this family.     

Differences in Borrelia infections in adult Ixodes persulcatus and Ixodes ricinus ticks (Acari: Ixodidae) in populations of north-western Russia

Dark-field microscopy was used to determine the number of Borrelia spirochetes in 630 standard preparations obtained from adult ixodid ticks (344 Ixodes persulcatus and 286 I. ricinus) collected in 1989-92 in the Leningrad region of Russia. The average numbers of Borrelia in I. persulcatus and I. ricinus preparations were 34.7 and 23.3 per 100 microscopic fields, respectively. The maximal individual values registered each year for ticks of both species were several hundred times greater than the minimal values. Ticks carrying relatively small numbers of Borrelia generally predominated. Proportions of more heavily infected ticks varied considerably from year to year. These parameters were significantly higher in foci with predominance of I. persulcatus ticks. As a consequence, risk to acquire Lyme borreliosis in such foci is considered greater than in foci where I. ricinus predominates.     

Experience in the study of the peculiarities of the distribution of the tick Ixodes ricinus in a large territory]

Attempts were undertaken to study the character of the distribution of I. ricinus over a large territory. Methodic principles of the land survey of arthropods distribution and laboratory processing of its results, that were used before for I. persulcatus, were found to be quite suitable for I. ricinus. It was established that hungry adults of I. ricinus have at least three types of the distribution throughout the forests of Lithuania. Types of the distribution can be ascertained by the results of the record of I. ricinus nymphs with a flag.     

Hot spots and functional organization of human chromosomes

Summary Our working hypothesis is that the Q-darker human chromosome segments have higher gene densities than the bright regions. Especially prominent in this respect are six hot spots, the short Q-dark regions in 3p, 6p, 11q, 12q, 17q, and 19 (p or q), which have been chosen because their density of mitotic chiasmata is above 5. Chromosomes with gene-rich segments would act as trisomy lethals in very early embryos, whose spontaneous abortions would not be recognized. Containing active genes, the regions would be looped out in interphase and thus be more easily available for mitotic pairing and crossing-over.To test this hypothesis, correlations and partial correlations of the following parameters have been determined: the density of mitotic chiasmata, the number and density of localized genes, the incidence of trisomic abortions, the length of chromosomes, and their Q-brightness. Overall, the correlations and partial correlations agree with, but do not prove, the working hypothesis. Far stronger evidence for our hypothesis comes from the highly significant negative effect of hot spots on trisomic abortions which would act as a kind of trisomy lethal. The gene numbers on the hot-spot chromosomes as compared with the controls, on the other hand, are in the right direction, but the difference is not significant.This is paper No. 2161 from the Genetics Laboratory, University of Wisconsin. It was supported by National Institutes of Health (Washington) grants GM 22881, GM 15422-09, and, to Dr. Hans Ris, GM 04738; by grant IN-35P from the American Cancer Society, and by the U. W. Graduate Research Committee (Grant 101-4403). The photography was done by Mr. Walter Kugler, Jr.