Inversion polymorphism in natural populations of Drosophila bipectinata

Inversion polymorphism was studied in seven natural populations of Drosophila bipectinata, five from northern and two from southern India. Chromosomal analysis of these populations revealed the presence of three paracentric inversions which are widespread in populations of D. bipectinata. Quantitative data indicated that the frequency of inversions and the level of inversion heterozygosity were very low in populations of D. bipectinata. There is no evidence for genetic differentiation between populations as a result of inversion polymorphism. These findings provide evidence for rigid chromosomal polymorphism in D. bipectinata. Significant non-random associations between inversions indicated epistatic interaction between inversions in natural populations of D. bipectinata.     

Mutation "outbursts" of various genes in natural populations of Drosophila melanogaster

The evaluation and treatment of older men with benign prostatic hyperplasia (BPH) is complicated by the highly variable clinical presentation of men with BPH, which ranges from minor urinary symptoms to acute urinary retention. Treatment choices have expanded with recent advances in medical and surgical therapies. Surgical treatment includes open prostatectomy and transurethral prostatectomy as well as newer technologies that are less invasive and that result in fewer long-term side effects. Response to treatment depends on the patient and should be directed at symptom relief.     

The sex-peptide gene (Acp70A) is duplicated in Drosophila subobscura

OBJECTIVE: We quantified the presence of diurnal rhythms in various computerized fetal heart rate parameters in normal pregnancies to assess their clinical relevance. STUDY DESIGN: Modified cosine analysis was applied to the outcomes of computerized analysis of continuous 24-hour fetal heart rate recordings in 26 normal pregnancies. Diurnal rhythms in maternal heart rate and plasma hormones were assessed in 15 and 17 pregnancies, respectively. Correlations between maternal and fetal rhythms were calculated. RESULTS: A significant diurnal rhythm in basal heart rate was present in 73% of the fetuses and was closely related to the maternal heart rate rhythm. Diurnal rhythms in heart rate variability, accelerations, and activity were present in only 30% to 50% of the fetuses. CONCLUSIONS: The mother entrains fetal diurnal rhythms. The normal variability in neural development may account for the absence of diurnal rhythms in some fetuses.     

Mitochondrial DNA and disease

This paper presents the results of an investigation into parameter sensitivity of a mathematical model of the human anterior cruciate ligament (ACL). The model ACL comprised a continuous array of fibres mapped between part-elliptical attachment areas on the femur and tibia. Relative motion of the two bones was controlled by a planar four-bar linkage. Parameter modifications were: (a) an alternative set of values for the coordinates of the four-bar linkage joints; (b) rotation of the attachment areas of the ligament by +/- 30 degrees; and (c) variation of some mechanical properties. The alternative four-bar linkage parameter set produced extremely large changes in ACL force values, up to 130 per cent. Rotating the tibial attachment changed forces by less than 20 per cent, whereas rotating the femoral attachment changed forces by up to 100 per cent. Altering the mechanical parameters produced the smallest differences in force, under 15 per cent. These results highlight the importance, when using a theoretical model, of establishing the values of the parameters defining the model as accurately as possible and of carrying out a parameter sensitivity study. From a clinical viewpoint, they also suggest that, when reconstructing a ruptured ACL, one of the most important considerations must be to position the femoral attachment of the graft as accurately as is feasible.     

Molecular evolution of a duplication: the sex-peptide (Acp70A) gene region of Drosophila subobscura and Drosophila madeirensis

In Drosophila melanogaster, the Acp70A gene, which is involved in the postmating reactions of the female, is a single-copy gene. However, in Drosophila subobscura, the gene is duplicated and both copies are transcribed. To study the molecular evolution of the duplication, a 2.1-kb fragment encompassing both copies of the duplication was sequenced for 10 lines of D. subobscura and one line of Drosophila madeirensis. Estimates of the divergence between the two copies of the duplicated region and between the two species studied, D. subobscura and D. madeirensis, revealed that both copies of the Acp70a gene had evolved independently since their duplication. The ratio of nonsynonymous to silent divergence between copies was generally higher than one. The McDonald and Kreitman test revealed an excess of nonsynonymous changes fixed since the duplication and before the split of the D. subobscura and D. madeirensis lineages. These results point to natural selection driving protein evolution after the duplication. Specifically, adaptive evolution appears to have caused the initial differentiation between copies of the N-terminal parts of the proteins, while purifying selection could be responsible for the high conservation of the C-terminal parts.     

Mitochondrial gene divergence of Colombian Drosophila pseudoobscura

Isolated populations of drosophila pseudoobscura, separated from North American populations by about 2,400 km, were found in Colombia in 1960. We compared for sequences of the small ribosomal RNA (srRNA) gene on the mitochondria between North American and Colombian D. pseudoobscura in order to clarify the age of the Colombian isolates. The North American populations were not genetically different from each other but were genetically different from the Colombian populations. The Mexican strains represent the area from which the Colombian founders might have come. The estimated net nucleotide divergence between Mexican and Colombian D. pseudoobscura indicates that the Colombian population is not an ancient lineage. Phylogenies using both distance and parsimony methodologies reinforced this conclusion. The Colombian samples group together with both methods but, according to the bootstrap analysis, not significantly. It appears that the populations have not been separated long enough for their DNA sequences to show much divergence.     

Mitochondrial DNA in idiopathic cardiomyopathy

143 women treated in 28 departments from 1980 to 1995 were retrospectively analysed to study the impact of prognostic factors in primary carcinoma of the fallopian tube. The mean age of the patients was 62.5 years. Sixty (42%) tumours were FIGO stage I, 28 (20%) stage II, 38 (27%) stage III, 17 (12%) stage IV. Complete radical resection was achieved in 102 (71%) patients. In 122 (85%) women, surgery involved removal of the uterus, the adnexa, and/or the omentum or lymph nodes. Postoperative therapy consisted of either irradiation (n = 40; 28%) or chemotherapy (n = 70; 49%); 33 women (23%) did not receive any treatment after surgery. The 5-year survival rate for all cases was 43%. The 5-year survival rate was 59% for stages I and II and 19% for stages III and IV (P < 0.00001). FIGO stage, histological grade and presence of residual tumour had an independent prognostic impact in multivariate analysis. In order to investigate the role of p53 in primary fallopian tube carcinomas, we analysed the immunohistochemical expression of p53 protein regarding survival and FIGO stage in 63 patients (44%). No statistical significance was observed.     

Molecular population genetics of the rp49 gene region in different chromosomal inversions of Drosophila subobscura

Nucleotide variation at the ribosomal protein 49 (rp49) gene region has been studied in 75 lines of Drosophila subobscura belonging to four chromosomal arrangements (Ost, O3+4, O3+4+8, and O3+4+23). The location of the rp49 gene region within the inversion loop differs among heterokaryotypes: it is very close to one of the breakpoints in heterozygotes involving Ost chromosomes, while it is in a more central position in all other heterokaryotypes. The distribution of nucleotide polymorphism in the different arrangements is consistent with a monophyletic origin of the inversions. The data also provide evidence that gene conversion and possibly double crossover are involved in shuffling nucleotide variation among gene arrangements. The analyses reveal that the level of genetic exchange is higher when the region is located in a more central position of the inverted fragment than when it is close to the breakpoints. The pairwise difference distributions as well as the negative values of Tajima's and Fu and Li's statistics further support the hypothesis that nucleotide variation within chromosomal arrangements still reflects expansion after the origin of the inversions. Under the expansion model, we have estimated the time of origin of the studied inversions.     

HLA-B44 allele frequencies and haplotypic associations in three European populations

Thrombosis during pregnancy poses special problems. This review focuses on risk factors for the development of venous thromboembolism during pregnancy, diagnosis of deep vein thrombosis and pulmonary embolism during pregnancy, therapeutic recommendations for the treatment of acute thromboembolism during pregnancy, and thromboprophylaxis in the pregnant woman. Management of pregnant women with antiphospholipid antibodies is also reviewed.     

Mitochondrial DNA mutations in Alzheimer''s disease

A rapid, simple, and efficient chloroform/methanol-free method of isolating gangliosides is described. The nonionic polyoxyethylene detergent, hexaethyleneglycol mono-n-tetradecyl ether (C14EO6), forms clear micellar solutions in water, but two-phase separation can be achieved by centrifugation in the presence of ammonium sulfate at room temperature. A mixture of pure gangliosides, metabolically labeled gangliosides obtained from cultured hippocampal neurons, and gangliosides from rat cerebellar tissue were quantitatively recovered in the detergent-rich upper (coacervate) phase, with a partition coefficient K > 60. Gangliosides were subsequently separated from the detergent using an Iatrobead column prior to analysis by thin-layer chromatography. The procedure described here is as efficient as other methods of ganglioside extraction, such as that using chloroform/methanol/water/pyridine, but is less time-consuming inasmuch as extraction, purification, and TLC analysis can be completed within 1 day.     

Mitochondrial DNA polymorphism in Jindo dogs

Mitochondrial DNA (mtDNA) polymorphism was studied in 21 Jindo dogs inhabiting Jin Island off the Korean peninsula. The polymorphism was analyzed with 10 restriction endonucleases that recognize six base pairs. The sizes of the mtDNA fragments produced by digestion using each endonucleases were separated by agarose gel electrophoresis, and the polymorphisms were detected with Japanese mongrel dog mtDNA as a probe. The mtDNA polymorphism in Jindo dogs was observed with four restriction endonucleases, Apa I, EcoR V, Hinc II, and Sty I. However, no polymorphism was detected with BamH I, Bgl II, EcoR I, Hind III, Pst I, or Xba I. The observed restriction endonuclease morphs were classified into 4 types of distinct cleavage patterns. The average number of nucleotide substitutions per nucleotide site in Jindodogs was estimated to be 0.0086. By UPG phylogenetic analysis, the 4 mtDNA types showed only one cluster. This suggests that Jindo dogs have not diverged from the other cluster up to the present and the species is considerably pure.     

Mitochondrial portraits of human populations using median networks

Analysis of variation in the hypervariable region of mitochondrial DNA (mtDNA) has emerged as an important tool for studying human evolution and migration. However, attempts to reconstruct optimal intraspecific mtDNA phylogenies frequently fail because parallel mutation events partly obscure the true evolutionary pathways. This makes it inadvisable to present a single phylogenetic tree at the expense of neglecting equally acceptable ones. As an alternative, we propose a novel network approach for portraying mtDNA relationships. For small sample sizes (< approximately 50), an unmodified median network contains all most parsimonious trees, displays graphically the full information content of the sequence data, and can easily be generated by hand. For larger sample sizes, we reduce the complexity of the network by identifying parallelisms. This reduction procedure is guided by a compatibility argument and an additional source of phylogenetic information: the frequencies of the mitochondrial haplotypes. As a spin-off, our approach can also assist in identifying sequencing errors, which manifest themselves in implausible network substructures. We illustrate the advantages of our approach with several examples from existing data sets.     

Mitochondrial DNA mutations in multiple symmetric lipomatosis

We describe an analytical technique for measuring residues of imidacloprid, a relatively new and highly active insecticide, in water and soil using high-performance liquid chromatography (HPLC). All analyses were performed on reversed-phase HPLC with UV detection at 270 nm using a mobile phase of acetonitrile-water (20:80, v/v). Fortified water samples were extracted with either solid-phase extraction (SPE) or liquid-liquid extraction methods. A detection limit of 0.5 microgram/l was achieved using the SPE method. The imidacloprid residues in soils were extracted with acetonitrile-water (80:20, v/v), and the extract was then evaporated using a rotary evaporator. The concentrated extract was redissolved in 1 ml of acetonitrile-water (20:80, v/v) prior to analysis by reversed-phase HPLC. A detection limit of 5 micrograms/kg was obtained by this method which is suitable for analysis of environmental samples. Accuracy and precision at 10 and 25 micrograms/kg soil samples were 85 +/- 6% and 82 +/- 4%, respectively.     

The mutability of natural populations and laboratory strains of Drosophila under conditions of chronic irradiation at small doses of low intensity

The frequency of irradiation-induced recessive lethals has been studied in chromosomes 1 and 2 of Drosophila melanogaster. It supposed, that the higher level of mutability may be explained in destabilization of genotype. The essential part in induction of genotype destabilization replies the genome instability mechanisms.     

Mitochondrial DNA analysis of Phialophora verrucosa

Restriction fragment length polymorphism (RFLP) of mitochondrial DNA (mtDNA) was examined in 32 isolates of Phialophora verrucosa (eight isolates from Japan, 10 from China, four from the USA, six from Venezuela and four from Colombia) and in three of Phialophora americana using five restriction enzymes. P. verrucosa isolates were divided into 10 mtDNA types based on RFLP patterns. Phylogeny constructed on sequence divergence of mtDNA indicated that P. verrucosa is a single species and isolates are clustered into three groups. Japan and the USA contained Group A and Group B isolates, China Group B isolates and South America Group B and Group C isolates. RFLP patterns of P. americana mtDNA were identical to those of Type 1 or Type 4 of P. verrucosa mtDNA, suggesting that both are identical. RFLP patterns of P. verrucosa were distinct from those of other dematiaceous fungi including Exophiala jeanselmei, E. moniliae, E. dermatitidis, E. spinifera, Cladophialophora (Cladosporium) carrionii, Fonsecaea pedrosoi, and Hortaea werneckii. These results indicate that RFLP analysis of mtDNA is a useful method for the identification, taxonomy, typing, epidemiology and phylogeny of P. verrucosa.     

Declining fecundity and ovarian ageing in natural fertility populations

Lower leg length measurements in 19 healthy preterm infants were obtained by knemometry to assess short term growth. Eight infants received fortified human milk and 11 infants commercially available preterm formulas. Two independent observers measured lower leg length in each infant daily during the study period, weight was measured daily with a neonatal scale. While weight gain showed linearity in all infants, lower leg length growth showed mini growth spurts of 5 +/- 1.7 days, growth periods of 20 +/- 11 days or both types of short term growth. The overall weight gain was 35 +/- 5.6 g/day in infants fed human milk and 33 +/- 7 g/day in infants fed preterm formula. The overall lower leg length growth velocity was 0.51 +/- 0.04 mm/day versus 0.54 +/- 0.09 mm/day, respectively. Both groups had comparable weight and length increments. No correlation existed between the type of nonlinear lower leg length growth (mini growth spurts versus growth periods) and the feedings received by the infants.