The present study refers to the previously reported identification of a family of interspersed repeated sequence in Vicia sativa. It deals with the organisation, and potential of these sequences. A high degree of homology was found between repeats belonging to this family within both Vicia sativa and two other species, which indicates a conservative nature of these repeated sequences. Dot blot hybridization and computer analysis suggest that it is possible to express DNA fragments localized within the repeated sequences of the described family. The family of sequences, the object of these studies, has not been identified in the genome of Vicia sativa so far.
Reciprocal translocations, very frequently identified in pigs, are the cause of fertitlity decrease. The aim of this work was to provide an objective assessment of the real effect of reciprocal translocation (7;13) on the fertility of carriers and associated economic effects. The experiment has shown that fertility, expressed as a mean litter size, decreased by 48% in comparison to that of the control group. On the basis of simulation account, financial losses incurred a translocation as a result of using carrying boar in a commercial herd were estimated at about 8,000 USD for natural mating and at about 162,000 USD for artificial insemination. The results obtained show the need for introducing a system for cytogenetic control of boars producing small litters into the Polish swine improvement programme.
Two yellow-seeded forms, Brasica juncea (AABB, 2n=36) and B.crinata (BBCC, 2n=34), were crossed to obtain Brassica napus form with a yellow seed coat.A 38-chromosome alloploid was identified in the F2 generation.It was expcted that obtained hybrid with the genome composition AACC (B.juncea x B.carfinata; FG2) will be characterized by yellow seeds.The unexpected results - a dark colour of seeds of the synthetic form 2n=38 may suggest different expression of genes in their new environment.Since the presented crossing involved relatively distant forms, meiosis was not so regular as in other synthetic hybrids of B.napus derived from crossing B.campestris to B.oleracea.The absence of chromosome and chromatid bridges indicates the lack of abnormlities in the chromosome structure.Viability of pollen grains of the alloploid amounting to 64% was very similar to that of other synthetic forms of B.napus
Three steps of multi stage selection for more vigorous seminal roots were done in two cross combinations of oat. The total length of roots (TRL) was measured in seedlings of the F2 , F3 and F4 generations grown in filter paper rollers. On average, the finally selected F5 (or F6 ) progenies distinguished by 7 11% improved rooting ability than their midparents. Transgressive forms were selected only in one cross combination. Coefficients of realized heritability for TRL were low and ranged from 0.08 to 0.42 indicating a relatively high proportion of non additive gene effects in the variance of TRL. Tolerance of the F6 progenies to water and nutrient limitations was evaluated in pot and field experiments. Correlated selection effects were dependent upon initial cross combination. Only progenies from one cross combination exhibited an improved drought tolerance at the 8 9 Feekes' stage. The both enhanced rooting and decreased S : R ratio of the F6 progenies correlated with their improved tolerance to reduced P supply at the 4 leaf stage. However, no significant consistence occurred between indices of the tolerance to reduced nutrition at the vegetative growth and those at field maturity. Performed root selection identified more frequently high yielding genotypes with less stable grain yield. No progenies were obtained that outperform their parents under low input conditions. It was emphasized that root selection should be accompanied by selection for integrated response components.
The birth incidence of neural tube defect (NTD) cases in British Columbia (B.C.), and elsewhere in North America, is reported to be declining. This decline is being attributed to folic acid (FA) supplementation and food fortification, but 2nd trimester prenatal screening of pregnancies for NTDs and other congenital anomalies has increased during this timeframe, as well. This descriptive, population-based study evaluates the impact of prenatal screening of NTD-affected pregnancies on (1) pregnancy outcome and (2) reporting of NTD births to the provincial Health Status Registry (B.C.H.S.R.); and it assesses (3) the use of periconceptional FA supplementation. NTD cases were ascertained from medical records of health centres providing care to families with NTD-affected pregnancies and newborns; and from NTD cases reported to the B.C.H.S.R. In 1997?1999, the B.C.H.S.R. published a NTD incidence of 0.77/1000. In this study, 151 NTD-affected pregnancies were identified, with an incidence of 1.16/1000. Partial Reporting of induced abortions in a NTD incidence 45.5% low than the actual incidence. Medical records were available for review on 144/151 pregnancies. Prenatal screening identified 86.1% (124/144) of NTD-affected pregnancies, with 72.6% (90/124) resulting in pregnancy termination, and 27.4% (34/124) continuing to term. Use of FA supplementation in the periconceptional period was recorded in 36.4% of pregnancies (39/107). Thus in B.C. the decline in the NTD incidence is due predominantly to pregnancy terminations following prenatal diagnosis, which reduces the NTD incidence by 60%, from 1.16/1000 to 0.47/1000. Continued efforts for primary and the option of secondary prevention of NTDs are recommended in order to improve newborn health in B.C. and elsewhere. These interventions need to be monitored, however, for optimal health care planning.
Hyperhomocysteinemia is reported to be an independent risk factor for the development of ischemic stroke. Several studies on genetic variants of methylenetetrahydrofolate reductase (MTHFR, which plays a crucial role in regulation of plasma homocysteine concentration) reported an association between C677T gene polymorphism and stroke in some Asian populations. No study but one detected this association in Caucasians. The purpose of the present case-control study was to find a relationship between MTHFR genotypes and stroke in a Polish population. MTHFR genotypes were determined by PCR in 152 patients with ischemic stroke from northwestern Poland and in 135 consecutive newborns from the same population. The TT genotype and the T allele were significantly more frequent in patients than in the control group (11.8% vs. 4.4%, and 34.5% vs. 21.5%, P < 0.01). When males and females were analyzed separately, the differences were statistically significant in both genders. It is concluded that presence of the T allele is a risk factor for ischemic stroke in Polish subjects.
Three resistant accessions: L. hirsutum LA1775, L. pennellii LA716, L. chilense LA2747, and the susceptible breeding line A100, were crossed to develop F1, F2 and BC1 populations for genetic analysis of tomato resistance to Oidium lycopersicum Cooke & Massee, emend. Noordeloos & Loerakker, the causal agent of powdery mildew. The resistances in all the studied wild species of Lycopersicon were dominant, but controlled by different numbers of genes depending on the source of resistance. Two incompletely dominant genes control the resistance in L. hirsutum, but one major gene has a stronger expression than the second minor gene. L. pennellii carries three cumulative dominant genes. The resistance of L. chilense is governed by one partially dominant gene that is less effective than the resistance genes of L. hirsutum.
The psbA-trnH intergenic region is among the most variable regions in the gymnosperm chloroplast genome. It is proposed as suitable for DNA barcoding studies and is useful in phylogenetics at the species level. This region consists of two parts differing in their evolutionary characteristics: 1) the psbA 3'UTR (untranslated region) and 2) the psbA-trnH intergenic spacer. We compared the sequence and RNA secondary structure of the psbA 3' UTR across gymnosperms and found consensus motifs corresponding to the stem portions of the RNA stem-loop structures and a consensus TGGATTGTTATGT box. The psbA-trnH spacer is highly variable in length and composition. Tandem repeats that form stem?loop structures were detected in both the psbA 3' UTR and the psbA-trnH spacer. The presence of promoters and stem?loop structures in the psbA-trnH spacer and high sequence variation in this region suggest that psbA and trnH in some gymnosperms are independently transcribed. A comparison of chloroplast UTRs across gymnosperms offer clues to the identity of putative regulatory elements and information on selective constraints imposed on the chloroplast non-coding regions. The present study should inspire researchers to explore the full potential of the psbA-trnH non-coding sequence and to further stimulate its application in a broader spectrum of studies, not limited to phylogenetics and DNA barcoding.
We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.
This study aimed to determine the frequency of associated urological abnormalities in children with unilateral renal agenesis (RA) or multicystic dysplastic kidney (MCDK). In total, 38 children (10 girls, 28 boys) were studied: 21 with RA and 17 with MCDK. In 14 children (37%) anomalies of the urinary tract were suspected prenatally in ultrasound studies. In the remaining 24 children the diagnosis of RA/MCDK was made postnatally: in 13 (34%) in the first 7 days of life, in 11 (29%) at the age of 8 days to 34 months, mean 10.6 ? 8.05 months. Voiding cystourethrography was done in 36 (95%) children, the isotopic 99mTc-EC/DMSA scan of the kidney in 29 (67%), and urography in 8. Urological anomalies were present in 11 (29%) children: in 7 (33%) with RA and in 4 (24%) with MCDK. Vesicoureteral reflux was diagnosed in 8 children: grade II in 4, III in 3, and IV in 1 (in 1 child to duplicated, in 1 to ectopic kidney); ureterovesical junction obstruction in 2 (9.5%); and ureteropelvic junction obstruction in 1 (4.8%). Among them, 2 children demanded surgery on the contralateral urinary tract: pyeloplasty in 1, antireflux procedure in 1; while 9 children were treated conservatively. Compensatory hypertrophy of the contralateral kidney was found in 90% of children. Thus due to an increased risk of pathological changes in the single functioning kidney, lifelong nephrological care is recommended in patients with unilateral RA/MCDK.
The present study describes an analysis of genotype and allele distribution at the porcine GH locus among day-10 pig embryos. Embryos were collected post mortem from 6 crossbred (Danish Landrace ? Yorkshire) sows inseminated with mixed Duroc semen and individually frozen for later analysis. After extraction, DNA was subjected to PCR amplification and restriction analysis with Msp I and Hae II enzymes. The genotype frequencies were: Msp I CD 0.17, DD 0.83; and Hae II AA 0.33, AB 0.58; and BB 0.09. The Msp I CC genotype was not found among analysed embryos. To our knowledge, this is the first report on the genotype and allele distribution at the GH locus among early pig embryos.
The study aimed at development of a multiplex PCR system for amplification of three Y-chromosome STR loci: DYS390, DYS392 and DYS393, and its application in haplotype polymorphism analysis in the population of northern Poland. Due to interactions between originally published primers, a new DYS392 primer pair was proposed. In a population of 158 unrelated males, 28 different haplotypes could be observed, 12 of which were seen only once. The haplotype diversity is 0.805. Distribution of haplotypes of the studied loci is specific to the population of northern Poland and distinguishes it from compared West-European populations. To our knowledge, this is the first report on a Y-STR multiplex system that can be analysed on native polyacrylamide gels.
Winter wheat cultivars Aquileja (AQ) and Xian Nong 4(XN) were previously reported to possess durable, quantitative resistance to stripe rust disease. In the present study, AQ, XN and a susceptible wheat cultivar were reciprocally crossed in all 6 combinations. Parents, F1, F2, F3, BCP1 and BCP2 were used to determine quantitative genetic parameters for infection type and disease severity. The results showed that fixable genetic components preponderated in the inheritance of the resistance in AQ and XN for both infection type and disease severity, while the dominant component could be detected in some cases. The resistance was conditioned by oligogenes. Heritability of the resistance ranged from 50 to 79% in most cases.
An assessment was made of the genetic variation of the Pulawska pig through the determination of polymorphism of 6 genes and 14 microsatellite sequences. The examinations covered 52 gilts included in a preservation breeding project. The identification of the alleles at microsatellite loci was performed in an ABI PRISM 310 GENETIC ANALYZER. Gene polymorphism was established by the PCR-RLFP method. On the basis of the variation of 6 genes and 14 microsatellites the mean value of the heterozygosity coefficient was estimated at 0.61, while the value of the corresponding PIC coefficient (polymorphism information content) amounted to 0.55. The probability that the genotypes of two randomly chosen individuals in a population are identical was: 6.95 ? 10?3 (based on gene allele frequency) and 1.23 ? 10?14 (based on microsatellite allele frequency).
In 1997, the Polish Registry of Congenital Malformations (PRCM) was established, to fulfil epidemiological, prophylactic, socioeconomic and scientific functions. The PRCM is a population-based registry monitoring currently about 300 000 births a year in 13 provinces. Such a large area and population require a special organizational structure of the Registry. The PRCM Central Working Group and the computer database are located in the Department of Medical Genetics, University of Medical Sciences, Pozna?. Here the data are collected, validated, encoded according to the ICD-10, and analysed. Provincial Working Groups are responsible for supervision of data collection in the given province. The PRCM staff has grown from about 250 members in 1997 to more than 400 members today. The PRCM collects information on structural defects diagnosed before the end of the second year of life. Minor anomalies are excluded from the registry. The main source of information is a registration form filled up by the physician diagnosing the anomaly. Since 2004 also electronic reporting has been possible. On 28 September 2005 there were 54 020 entries in the database concerning 33 729 children with at least one congenital malformation and 1261 control entries concerning children without malformations. The PRCM is also an important source of identification of families at genetic risk. Education of physicians and the community in the field of genetic counselling is also an important aim of the PRCM. Since 2001, the PRCM has been a member of the Eurocat. Detailed information on PRCM organization, electronic reporting, and results are available at the PRCM website (www.rejestrwad.pl).
The objective of this study was to standardize an induction strategy of chromosome aberrations in maize inbred line L-869. Pollen grains irradiated with 0, 36 and 72 Gy were used for fertilization. Resulting seeds were planted in a greenhouse to assess the number of abnormal meiotic cells. Germination, height, sterility and mortality were verified. Cells with delayed separation of chromosomes, translocation, deficiency, abnormal pairing, later condensation and anaphase bridges were observed. The number of abnormalities increased as the dosage increased but chromosome aberration types were the same regardless of the dosages used. Various chromosome-altered plants were obtained without viability loss.
The genetic basis of the resistance of the common cypress to Seridium cardinale was investigated in the environmental condition of Central Italy. The cortical canker caused by the fungus affects the common cypress since the 1970's in Europe and the genetic improvement for the resistance is considered an effective tool to cope with the bark canker epidemics. General and specific combining abilities of thirty mother plants were estimated by means of a North Carolina II mating design including four cypress clones as testers showing divergent degree of canker resistance. The strong differences among testers and general combining effects showed that the character under investigation has an additive genetic control. The best combinations were identified within the families from the crosses with the resistant tester. The results however showed that an early classification of the mother trees, based on a simple unreplicated resistance screening test, is not effective to predict the behaviour in crosses. Replicated screening tests based on morpho-physiological and chemical characteristics are suggested, because the bark canker resistant traits is not sufficiently stable in cypress trees.
Coding properties of yeast chromosomes were analysed and a strong asymmetry was found in nucleotide composition of sense and antisense strands. This property generates two very simple parameters [A]/[T] and [G]/[C] of the sense strand which could be used for discrimination of open reading frames as coding sequences with very high, statistically described level of significance. The paper contains a description of the method of ellipse of concentration in the two parameter space, which can close coding sequences inside, leaving a big fraction of noncoding sequences outside the ellipse.
The change in the developmental pathway of microspores from gametophytic to sporophytic is induced by stress during pretreatment of spikes and anthers. In our experiments, anther culture of three barley cultivars was tested with regard to the effect of chilling at 4?C for 28 days, starvation in 0.3 M mannitol solution for 4 days, and a combination of both methods. Chilling was shown to increase embryo/callus formation, while mannitol treatment favoured plant development, including development of green plants; simultaneous application of the two stress factors for 4 days proved to be ineffective. The tested cultivars exhibited a similar ability (calculated per 100 transferred embryos/calli) to develop plants without pretreatment; however, their responses to stress varied greatly. The collected data indicate that mannitol pretreatment, as compared to chilling, is more efficient in responsive cultivars.
Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140 000 livebirths, affecting males and females equally. In the present investigation, we report a de novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis [47,XX + i(18p)]. Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as a de novo event of i(18p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication.
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