Genetical analysis of an experimentally caused and genetically fixed extra grossvein on the wing of Drosophila melanogaster.
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Animals↗
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Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening.
The aim of this work was to perform genetic analysis on 18 different blood-spot samples collected from neonates detected as hyperphenylalaninemic by Northeastern Italian screening program. DNA was extracted from blood-spots. Exons/introns of PAH gene were amplified by polymerase chain reaction (PCR), and PCR products were purified and sequenced with both forward and reverse primers. The most frequent mutations were IVS12nt1g>a (16.7%) and R408W, P281L and L48S (all together 11.1%). As expected, compound heterozygosity was the usual finding; homozygosity was found only in two patients with R158Q and IVS2nt5g>c mutations. The V230I mutation was reported for the first time in Italy. We found six previously described polymorphisms (V245V, IVS4nt47c>t, IVS2nt19t>c, IVS3nt-22c>t, IVS5nt-54a>g, and E280>Q280). To our knowledge, four genotypes were not previously described: R158Q/V230I present in one patient with classical PKU; and L48S/R408Q, A403V/IVS2nt-13t>g, and G272X/V230I present in patients showing HPA phenotype. Most of the mutations were located in the exons 12 and 7 and in exon/intron 2 (83.3% detection of total mutations in PKU or HPA patients of Northeastern Italy). From a practical viewpoint, the genetic analysis of blood-spots collected on Guthrie cards for neonatal screening for PKU could be a simple method to establish the genotype of neonates. Consequently, the genotype/phenotype correlation could lead to a more accurate diagnosis and prognosis for families.
Amino Acid Substitution↗
Prenatal diagnosis and genetic analysis of a fetus with 47,XX,+21/46,XX mosaicism and XX/XY chimerism.
Prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX,+21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX,+21/46,XX) in one fetus in a twin pregnancy. Cordocentesis revealed 47,XX,+21[3]/46,XX[35]/46,XY[7] in this fetus. Postnatal cytogenetic analysis of cord blood confirmed three cell lines in this twin (A) and 46,XY in the co-twin (B). Postmortem pathologic findings of both fetuses were normal. Fluorescence in situ hybridization identified three cell lines in the cord blood of twin A. Molecular genetic analysis using polymorphic DNA markers revealed parental origin of fetal tissue, and confirmed the chimeric status. Molecular genetic analysis with polymorphic DNA markers help to differentiate chimerism from mosaicism and define the origin of cell lines, which may have importance in genetic counseling.
Adult↗
[Dependence of the results of a genetic analysis of self-pollinating cereal species on the specificity of the mapping population].
The available in literature information as for results of genetic analysis of several self-pollinating cereal species involving the use of plant lines with alien genetic material as the object of analysis is summarized. The restrictions caused by specificity of the investigated material as for the possible explanation of the obtained results are emphasized. Several suggestions concerning the preliminary study of introgressive plant lines before their including into experimental programs on genetic analysis are made.
Aneuploidy↗
Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.
X-linked chronic granulomatous disease (X-CGD) is the most common type of CGD, whose responsible gene has been identified and termed as CYBB, according to the gp91-phox, a subunit of cytochrome b558. Although approximately 200 different mutations of the gp91-phox gene have been reported, no precise study of the proportion of sporadic cases in X-CGD, based on molecular genetic analysis, has been reported. We made a genetic analysis of six newly identified X-CGD patients together with that of eight previously reported X-CGD patients. The mutations newly detected were three missense mutations, two splice mutations, and one insertion of 2 bases. All of the mutations were novel. Twelve mothers (two of them came from the same family) and four maternal grandmothers from 13 different X-CGD families were available for further genetic studies. It was revealed that a proportion of sporadic patients was low and that of sporadic carriers was high. These results suggest that the mutation for the disease originates mainly from male gametes.
Alternative Splicing↗
Sexual and parasexual approaches to the genetic analysis of the laboratory mouse, Mus musculus.
The mouse genetic map has been characterized largely through breeding studies based on the principles of Mendelian genetics. More recently, specific genetic information has been obtained from somatic cell studies using the techniques of in situ hybridization and somatic cell hybridization. The genetic analysis possible through these sexual and parasexual approaches is described, and specific linkage information from recent somatic cell studies is reviewed.
Animals↗
[Genetic analysis of migraine headache: a review].
Recent advances in genetic analysis of migraine headache are reviewed. Point mutations of P/Q -type Ca2+ channel alpha1 subunit(CACNA1A) gene and Na-K ATPase, alpha2 (ATP1A2) gene have been identified in the familial hemiplegic migraine (FHM-1 and FHM-2, respectively). Mutations in notch-3 gene cause the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is an autosomal dominant inherited disorder often accompanying with migraine like headache. Serotonin (5-HT) related genes, dopamine D2 receptors (DRD2) gene, methylenetetrahydrofolate reductase (MTHFR) gene, and angiotensin converting enzyme (ACE) gene have been noticed as the susceptible genes for migraine pathogenesis. Genetic study of migraine is promising and will provide further understanding of the migraine pathophysiology. Discovery of the responsible or susceptible genes will open an avenue to develop new therapeutic strategy.
CADASIL↗
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. Although CF is common in Caucasians, it is known to be rare in Asians. Recently, we experienced two cases of CF in Korean children. The patients were girls with chronic productive cough since early infancy. Chest computed tomography showed the diffuse bronchiectasis in both lungs, and their diagnosis was confirmed by the repeated analysis of a quantitative pilocarpine iontophoresis test (QPIT). The sweat chloride concentrations of the first patient were 108.1 mM/L and 96.7 mM/L. The genetic analysis revealed that she was the compound heterozygote of Q1291X and IVS8 T5-M470V. In the second case, the sweat chloride concentrations were 95.0 mM/L and 77.5 mM/L. Although we performed a comprehensive search for the coding regions and exon-intron splicing junctions of CFTR gene, no obvious disease-related mutations were detected in the second case. To our knowledge, this is the first report of CF in Korean children identified by a QPIT and genetic analysis. The possibility of CF should be suspected in those patients with chronic respiratory symptoms even in Korea.
Blood Pressure↗
Genetic analysis of an osmotic sensitive Saccharomyces cerevisiae mutant.
The genetic analysis of VY1160 sorbitol dependent, osmotic sensitive yeast mutant led to the identification of three different nuclear recessive mutations. Two of them, designated sorb- and ts1 are closely linked to one another. The mutation sorb- determines the lysis, while the mutation ts1 increases the ability for lysis of the sorbitol dependent cells. The third mutation ts2 segregates independently from the other two and confers the sensitivity of VY1160 mutant cells towards rifampicin.
Genes, Recessive↗
Association of Saccharomyces bayanus var. uvarum with some French wines: genetic analysis of yeast populations.
Using genetic hybridization analysis, electrophoretic karyotyping and PCR-RFLP of the MET2 gene, we found that the yeast Saccharomyces bayanus var. uvarum is associated with certain types of wines produced in the Val de Loire, Sauternes, and Jurancon regions. The average frequency of appearance of this yeast in the three regions of France was 41, 7 and 77%, respectively. In contrast, we did not find S. bayanus var. uvarum in red wines produced in the Bordeaux area. The results of this study, as well as the findings already reported on Tokay (Slovakia), Muscat (Crimea, Ukraine) and Amarone (Italy) wines, lead us to consider that distribution of S. bayanus var. uvarum yeast is connected with low temperature climatic conditions and/or wine technologies in which must fermentation is at least partially carried out at low temperatures (10-15 degrees C).
Fermentation↗
A quantitative genetic analysis of localized morphology in mandibles of inbred mice using finite element scaling analysis.
We analyzed patterns of mandibular genetic and phenotypic morphological integration and the relationship of genealogy to interstrain molecular and morphological differences in ten inbred strains of mice. Positions of mandibular landmarks in two-dimensional space were used to construct a finite element mesh for each individual, then all individuals from the ten strains were compared to the average mandible from a standard strain (SEA/GnJ). Measures of size and shape associated with finite element scaling analysis were then used in a quantitative genetic analysis of mandibular variation. Significant genetic variation for mandibular size and shape was uncovered. Patterns of both genetic and phenotypic correlation for measures of landmark-specific sizes were consistent with models of morphological integration based on the developmental origin of parts of the mandible and on the effects of muscle attachment on mandibular morphology. Shape differences local to particular landmarks did not show these forms of morphological integration. Although interstrain distances based on local shape magnitudes were significantly correlated with genealogical relationship, distances based on local size differences were not. Even higher than the correlation of genealogy with distances based on local shape magnitude was the genealogical-molecular distance correlation. Patterns of morphometric mandibular variation corresponded to expected effects of epigenetic developmental processes. Also, when detailed shape differences were considered, morphology served as a rough guide to genealogy, although molecular distances showed a stronger relationship.
Animals↗
Leaf-rust resistance in rye (Secale cereale L.). 1. Genetic analysis and mapping of resistance genes Pr1 and Pr2.
Genetic analysis of resistance to leaf rust in rye (Puccinia recondita f. sp. secalis) led to the identification of two dominant resistance genes, Pr1 and Pr2. Both genes proved to be effective against a local leaf-rust population as well as a subset of single-pustule isolates (SPIs) the latter of which comprised SPIs with very high virulence complexity. Resistance conferred by Pr1 and Pr2 was expressed in detached-leaf tests of seedlings as well as in field tests of adult plants. Molecular marker analysis allowed us to map Pr1 in the proximal part of rye chromosome 6RL, whereas Pr2 was assigned to the distal part of chromosome 7RL. These results are discussed in view of homoeology relationships among Triticeae. A proposal is submitted for the designation of resistance genes to rye leaf rust which would avoid interference with existing gene-symboling in respect to wheat leaf-rust resistances introgressed from rye into wheat or triticale.
Basidiomycota↗
[Effect of gametocidal chromosome 4S' on the phenotype segregation ratio in genetic analysis of common wheat lines].
Using experimental data on genetic analysis of introgressive lines for the character "hairy leaf sheath" controlled by the "cuckoo" chromosome 4S1, the algorithm for calculation of the theoretical segregation ratio in F2 was developed. Segregation distortion is caused by non-viability of the majority of gametes lacking the chromosome 4S1. The frequency of functioning gametes without the chromosome 4S1 is determined by the probability p versus the theoretically expected ratio 7 nonviable: 9 viable ones. Since segregation involves two characters, gamete viability and hairiness, the ratio 15 hairy: 1 hairless was used as a basis for search of the frequency p by maximum-likelihood method using 16 populations F2 from crossing the lines differing in the character studied.
Chromosome Segregation↗
Identification and genetic analysis of an Agrobacterium tumefaciens chromosomal virulence region.
A genetic analysis of Agrobacterium tumefaciens chromosomal functions required for virulence was undertaken. Large Tn5-containing cosmid clones were isolated from DNA of avirulent A. tumefaciens mutants having chromosomal Tn5 insertions and exhibiting defective attachment to plant cells. The clones from several different mutants each contained overlapping segments of a 30-kilobase A. tumefaciens chromosomal region, which were physically mapped. All chromosomal Tn5 insertions leading to the avirulent, attachment-defective phenotype were localized within an 11-kilobase portion of this chromosomal virulence region. Transposon Tn3::HoHo1 (Tn3 containing lacZ) was used to simultaneously mutagenize and create lac fusions within the virulence region. This analysis demonstrated the presence of two distinct chromosomal virulence loci, which were 1.5 and 5 kilobases long; transposon insertions into these loci led to avirulence and defective attachment. The beta-galactosidase activity associated with various Tn3::HoHo1-created lac fusions indicated that the loci are transcribed in opposite directions, and complementation studies suggested that each locus consists of a single transcriptional unit. A cosmid clone of the chromosomal virulence region containing a lac fusion in the extreme 3' portion of the 5-kilobase locus was used to demonstrate that expression of this region is dependent on the presence of sequences in the 5' portion of the locus, confirming its operon-like nature.
Chromosomes, Bacterial↗
A genetic analysis of the mandible and maxilla in the rat.
A quantitative genetic analysis of eight osteometric traits from the oral region together with femur length in the rat are described. The relevant questions being examined are (1) the heritability of each trait; (2) the relative contribution of genetic, maternal environmental, and residual environmental effects to the correlation between the oral traits, and (3) genetic and nongenetic components of the correlation between the oral traits and overall body size. Some quantitative genetic aspects of covarying traits is briefly reviewed with special emphasis on allometric variation. Phenotypic regression coefficients from log-transformed data (= allometry coefficients) of oral traits onto femur length are partitioned into components due to genetic, maternal environmental, residual environmental, and total environmental causes. All phenotypic regression coefficients and all but one based on an environmentally determined covariance component are significantly different from zero, suggesting a substantial body size effect in the oral region resulting from nonheritable causes. However, three genetic coefficients from regressions of oral traits to femur length are not different from zero, indicating a genetic correlation with body size in five traits but not in three others. A principal components analysis was carried out on the phenotypic, genetic, and environmental correlations of the eight oral traits to provide a multivariate depiction of the components of covariation in the maxilla and mandible of the rat. General multivariate effects due to body size together with group or special effects are demonstrated for each component of morphogenesis.
Animals↗
Genetic analysis of hepatitis A virus outbreak in France confirms the co-circulation of subgenotypes Ia, Ib and reveals a new genetic lineage.
Genetic analysis of selected genome regions of hepatitis A Virus (HAV) suggested that distinct genotype could be defined in different geographic locations. In order to study the degree of genetic variability among HAV isolated during a single epidemic outbreak, sequences from a 148 base pair segment within the VP1 amino terminal region were obtained for eight distinct HAV isolates from an outbreak that occurred in North Bretagne (France). These sequences were compared among themselves and with published sequences from 30 different strains that represented different HAV sub-genotypes that were isolated all over the world. Phylogenetic analysis revealed an extensive genetic heterogeneity among strains belonging to the same outbreak and revealed co-circulation of sub-genotype IA, IB, and the presence of IIIA sub-genotype for the first time in a Mediterranean country.
Adult↗
Genetic analysis of mechanisms of aging.
A wide range of genetic models with postponed aging are now available, from selected mice and Drosophilia to mutant Caenorhabditis elegans and Saccharomyces cerevisiae. These systems allow efficient testing of alternative mechanistic hypotheses for aging. Genetic analysis is forging stronger connections between particular alleles and susceptibility to particular 'diseases of aging'; for example, two different genes for Alzheimer disease have been identified.
Aging↗
Integrated portable genetic analysis microsystem for pathogen/infectious disease detection.
An integrated portable genetic analysis microsystem including PCR amplification and capillary electrophoretic (CE) analysis coupled with a compact instrument for electrical control and laser-excited fluorescence detection has been developed. The microdevice contains microfabricated heaters, temperature sensors, and membrane valves to provide controlled sample positioning and immobilization in 200-nL PCR chambers. The instrument incorporates a solid-state laser and confocal fluorescence detection optics, electronics for sensing and powering the PCR reactor, and high-voltage power supplies for conducting CE separations. The fluorescein-labeled PCR products are amplified and electrophoretically analyzed in a gel-filled microchannel in <10 min. We demonstrate the utility of this instrument by performing pathogen detection and genotyping directly from whole Escherichia coli and Staphylococcus aureus cells. The E. coli detection assay consists of a triplex PCR amplification targeting genes that encode 16S ribosomal RNA, the fliC flagellar antigen, and the sltI shigatoxin. Serial dilution demonstrates a limit of detection of 2-3 bacterial cells. The S. aureus assay uses a femA marker to identify cells as S. aureus and a mecA marker to probe for methicillin resistance. This integrated portable genomic analysis microsystem demonstrates the feasibility of performing rapid high-quality detection of pathogens and their antimicrobial drug resistance.
Animals↗