Transposon content of nonconjugative plasmids ofEscherichia coli

Department of Biology and General Genetics, Patrice Lumumba Peoples' Friendship University, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR S. V. Prozorovskii.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 106, No. 12, 711–714, December, 1988.     

Acoustic transmission in normal human hips: structural testing of joint symmetry

An acoustical technique has been developed for the measurement of structural symmetry of the hip joints. A mild vibratory force was applied to the sacrum and sound signals were picked up at both hips by a pair of microphones installed in two stethoscopes. These stethoscope–microphone assembles were calibrated to achieve a difference in relative sensitivity of less than 0.2 dB. The relative transmission of sound signals was analysed and compared between both hips by a dual-channel signal analyser. Twenty-seven healthy adults, 20 healthy pre-school children and 19 normal neonates were tested. Results from these three groups showed high coherence of the sound signals and that the discrepancy between both hips was smallest in the frequency range of 200–315 Hz. For normal neonates, the sound signals maintained a high coherence (γ²>0.97) and small discrepancy (D<1.25 dB) between both hips. This study has shown that the acoustical technique provides a practical structural testing for bony symmetry of the hips and the results offer a baseline for further investigation into developmental dysplasia of the hip (DDH) in neonates. Clinical screening for DDH is still problematic in developing countries.     

Interest in genetic testing among first-degree relatives of breast cancer patients

The recent cloning of a breast-ovarian cancer susceptibility gene (BRCA1), and determination of the locus of a related gene (BRCA2), offers potential for clinical genetic testing for breast cancer susceptibility. This study examined interest in and expectations about an impending genetic test among first-degree relatives (FDRs) of breast cancer patients. One hundred five females completed two structured telephone interviews to assess demographics, breast cancer risk factors, psychological factors, and attitudes about genetic testing for breast cancer susceptibility. Overall, 91% of FDRs said that they would want to be tested, 4% said they would not, and 5% were uncertain. The most commonly cited reasons for wanting genetic testing were to learn about one's children's risk, to increase use of cancer screening tests, and to take better care of oneself. Women with less formal education were motivated by childbearing decisions and future planning to a greater degree than were women with education beyond high school. Most women anticipated a negative psychological impact of positive test results, involving increased anxiety (83%), depression (80%), and impaired quality of life (46%). In addition, 72% of women indicated that they would still worry if they tested negative. In multivariate regression analysis, level of baseline depression was the strongest predictor of an anticipated negative impact of genetic testing (Beta =.15; P,.0001). These results suggest that the demand for genetic testing for breast cancer susceptibility may be great, even among women who are not likely to have predisposing mutations. Prior to widespread availability of such testing, it will be critical to develop informed consent protocols to educate individuals about the benefits and limitations of predictive testing for this multifactorial disease. © 1995 Wiley-Liss, Inc.     

The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD)

We performed genetic analysis for carrier detection for several at-risk females in a four-generation Duchenne muscular dystrophy (DMD) pedigree using deletion analysis. We demonstrated that dosage analysis is a suitable alternative method to determine the carrier status of female relatives of DMD patients shown to have a deletion within the DMD gene. Subsequently, we diagnosed an affected male fetus for an at-risk female shown to be a DMD carrier by deletion analysis. The usefulness of deletion and linkage analysis are compared. In this family, linkage analysis was complicated by the unavailability of key family members, two recombination events and by previously undisclosed nonpaternity. We found that dosage analysis was more efficient than linkage for carrier evaluation in this family.     

Complete subtyping of the HLA-A locus by sequence-specific amplification followed by direct sequencing or single-strand conformation polymorphism analysis

Abstract: A variety of reasons related to the HLA class I system has complicated the application of molecular approaches to HLA class I typing. Here we present a PCR-based HLA-A typing strategy considering the sequence variations of the two most polymorphic exons which allows complete subtyping of the HLA-A locus. The method is based on a sequence-specific amplification identifying the serologically defined HLA-A specificities. The PCR products generated by these group-specific primers bear the sequence information necessary for a postamplification specificity step. The primer pairs are located within one exon, either exon 2 or exon 3, which avoids amplification of polymorphic intron sequences allowing subsequent single-strand conformation polymorphism analysis and facilitating direct sequencing. Using this method we investigated 48 cell lines and 153 clinical samples. 23 PCR reactions are performed per individual for the assignment of the serological specificities A1-A80. The reproducibility was 100% in all cell lines and 85 clinical samples typed on two separate occasions. With the exception of 13 out of 231 possible serological combinations all homozygous and heterozygous combinations of A1-A80 can be distinguished by specific amplification patterns. Comparing the PCR based typing results with those of serology in 12% a discrepancy was found. Solid-phase sequencing or SSCP analysis of the group-specific PCR fragments allowed complete subtyping of the HLA-A locus. This strategy can identify all 48 HLA-A alleles based on the sequence variations of the 2nd and 3rd exon. 1128 homozygous and heterozygous allele combinations are possible for the HLA-A locus. Only 4 out of these 1128 allele combinations remained unresolved.     

人体神经定量电流感觉检测系统的研制

电流感觉阈值测试是人体神经感觉功能的定量感觉测试方法的一种．它采用特定频率的正弦恒电流刺激人体神经末梢感受器，检测人体对电流刺激的最小感受量，用于定量评估神经功能。本文回顾了国际上电流感觉阈值测试技术的发展与现状，介绍了我们开发的人体神经定量电流感觉检测系统。该系统采用生理心理统计算法过滤人体主观感受的影响，具有双盲全自动测量功能，测量结果具有很好的重复性。     

HLA-DPB1 typing by polymerase chain reaction amplification with sequence-specific primers

DPB1 is the second most polymorphic class II locus with currently 84 recognized alleles, i.e. DPB1*0101 to DPB1*8101. Most of the alleles have been described during the last few years using oligonucleotide and sequencing techniques and relatively little is known about the role and importance of the polymorphic residues as regards to the function of DP molecules. In the present study, polymerase chain reaction (PCR) primers were designed for identification of all the phenotypically different DPB1 alleles by PCR amplification with sequence-specific primers. Forty-eight standard genomic PCR reactions per sample were performed in order to achieve this resolution. Unique amplification patterns were obtained in 2983 of 3160 (94.4%) possible genotypes. The primers were combined so that only very rare genotypes gave rise to ambiguous patterns. Sixty-four Histocompatibility Workshop cell lines and 150 DNAs provided by the UCLA DNA exchange were investigated by the DPB1 primer set. All typing results were conclusive. Analysis of the distribution of DPB1 alleles was performed in 200 Caucasian samples, 100 African samples and 40 Oriental samples. The population study by the DPB1 PCR-SSP method showed a characteristic distribution of HLA-DPB1 alleles. Each ethnic group had one, or two, frequent DPB1 allele(s) and the frequency of homozygotes was high, suggesting that balancing selection does not appear to be affecting the evolution of the DPB1 locus.     

The motivation of at-risk individuals and their partners in deciding for or against predictive testing for Huntington''s disease

Sixty-six percent of the at-risk persons and 74% of the partners in a large survey in Belgium have the intention of making use of predictive testing for Huntington's disease. One third of them, however, have expressed the intention of postponing the final decision for various reasons. The intention to be tested is not at all related to sociodemographic characteristics. A thorough exploration of the reasons for being in favour of or against taking the test reveals that the motivation inspiring this very personal decision is very complex. In the group of at-risk persons, less than half of the variation in the intention to be tested is explained by the role of a series of specific reasons as predictor variables in a regression analysis. The proportion of explained variation is slightly higher in the group of partners. 'To have certainty about my own future' and 'to make arrangements for the future' play a major part in the decision of the total group. 'Making decisions concerning children' and to a larger extent 'informing children about their risk status' are important factors in deciding in favour of the test.     

Population-based laboratory surveillance for tribe Proteeae isolates in a large Canadian health region

The tribe Proteeae comprises the genera Proteus, Morganella and Providencia. Few studies have specifically investigated the epidemiology of infections caused by the Proteeae, and none has been conducted in a large non-selected population. The present study was a population-based laboratory surveillance in the Calgary Health Region (population 1.2 million), Canada during 2000-2005 that aimed to define the incidence, demographical risk-factors for acquisition and antimicrobial susceptibilities of Proteeae isolates. In total, 5047 patients were identified from whom Proteeae isolates were obtained (an annual incidence of 75.9/100 000), with females and the elderly being at highest risk. Incidence rates were 64.8, 7.7 and 3.4/100,000/year for the genera Proteus, Morganella and Providencia, respectively. Overall, 85% of infections were community-onset, and the overall rate of bacteraemic disease was 2.0/100,000. Compared with other species, Proteus mirabilis occurred at a much higher frequency, especially among females, and was less likely to be isolated from hospital-onset infections or to be part of a polymicrobial infection. Among isolates from community-onset infections, Providencia spp. were less likely to be from outpatients and more likely to be from nursing home residents. There were low overall rates of resistance to ciprofloxacin (4%) and gentamicin (5%), with Prot. mirabilis generally being the most susceptible. Members of the Proteeae were isolated frequently in both the community and hospital settings, but were infrequent causes of invasive disease. The occurrence, demographical risk-factors and microbiology of Proteeae isolates varied according to the individual species.     

To test or not to test: an ethical conflict with presymptomatic testing of individuals at 25% risk for Huntington's disorder

The first presymptomatic test for Huntington's disease was developed in the 1980s. With the detection of the gene causing the disorder in 1993, it became possible to do direct mutation tests with almost 100% sensitivity and specificity. The author discusses some of the ethical issues that arise when an adult child at 25% risk for the disease wishes to have the test, but the parent(s) at 50% risk refuses to have one. If the child tests positive, the genetic status of the parent will also be disclosed. No matter what course of action is chosen in this situation, the ethically legitimate interests of either child or parent might be violated. The author examines different alternatives and suggests a solution that might be acceptable to all parties.