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PubMedDate not supplied

Mutagenicity of chloropropanol in a genetic screening battery.

A 72:25 mixture of 1-chloro-2-propanol and 2-chloro-1-propanol was tested for genetic activity in a battery of short term tests. Chloropropanol was tested over a dose range of 527-167,250 micrograms/plate in the Salmonella/mammalian microsome mutagenicity assay. A dose dependent mutagenic response was observed in strains TA 1535 and TA 100. Metabolic activation enhanced mutagenicity in both strains. Although chloropropanol was mutagenic in the TK+/-mouse lymphoma assay with and without metabolic activation, a smooth linear dose response relationship was not observed. Non-toxic mutagenic doses ranged from 5,000 to 10,000 micrograms/mL without activation. Chloropropanol was also mutagenic in the rat bone marrow cytogenetic assay. Rats dosed orally with 10, 31 and 100 mg/kg/day for 5 days displayed no significant difference in mean body weight gain or mean mitotic index when compared to controls, however, a dose-response increase (significant) in the number of aberrations, mostly chromatid breaks, was observed in each case.

Animals↗
PubMed2004

Attitudes and beliefs concerning prostate cancer genetic screening.

This quantitative study determines the values, beliefs, and attitudes influencing the intention of men to undergo or defer genetic testing for prostate cancer risk using a model based on components of the Theory of Reasoned Action and Health Belief Model. Telephone interviews of a community sample of 400 men in a large, East Coast metropolitan area of diverse educational, ethnic, and age backgrounds were conducted to rank key values and beliefs about genetic testing for prostate cancer risk in anticipation of its future availability. Descriptive statistics, univariate analyses, and logistic regression were used in data analysis. The factors of values attached to consequences, motivation from self, beliefs in benefits, and a motivation to comply with others (borderline) were statistically significant for testing intention. Of all demographics, only increased education was associated with diminished interest in testing. Desire to be tested varied widely across groups of men. Based on these identified values, health professionals can better understand men's values and beliefs on the risks and benefits of testing. The relationship of men to others, family and society, require further investigation in this and other aspects of genetic testing.

Adult↗
PubMed2004

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.

Polycystic kidney disease (PKD) is a common human genetic illness. It is characterized by the formation of multiple kidney cysts that are thought to result from over-proliferation of epithelial cells. Zebrafish larvae can also develop kidney cysts. In an insertional mutagenesis screen in zebrafish, we identified 12 genes that can cause cysts in the glomerular-tubular region when mutated and we cloned 10 of these genes. Two of these genes, vhnf1 (tcf2) and pkd2, are already associated with human cystic kidney diseases. Recently, defects in primary cilia have been linked to PKD. Strikingly, three out of the 10 genes cloned in this screen are homologues of Chlamydomonas genes that encode components of intraflagellar transport (IFT) particles involved in cilia formation. Mutation in a fourth blocks ciliary assembly by an unknown mechanism. These results provide compelling support for the connection between cilia and cystogenesis. Our results also suggest that lesions in genes involved in cilia formation and function are the predominant cause of cystic kidney disease, and that the genes identified here are excellent candidates for novel human PKD genes.

Animals↗
PubMed2000

Genetic screens for factors involved in the notum bristle loss of interspecific hybrids between Drosophila melanogaster and D. simulans.

Interspecific cross is a powerful means to uncover hidden within- and between-species variation in populations. One example is a bristle loss phenotype of hybrids between Drosophila melanogaster and D. simulans, although both the pure species have exactly the same pattern of bristle formation on the notum. There exists a large amount of genetic variability in the simulans populations with respect to the number of missing bristles in hybrids, and the variation is largely attributable to simulans X chromosomes. Using nine molecular markers, I screened the simulans X chromosome for genetic factors that were responsible for the differences between a pair of simulans lines with high (H) and low (L) missing bristle numbers. Together with duplication-rescue experiments, a single major quantitative locus was mapped to a 13F-14F region. Importantly, this region accounted for most of the differences between H and L lines in three other independent pairs, suggesting segregation of H and L alleles at the single locus in different populations. Moreover, a deficiency screening uncovered several regions with factors that potentially cause the hybrid bristle loss due to epistatic interactions with the other factors.

Animals↗
PubMed1981

Screening for genetic traits and diseases.

Genetic screening should greatly improve the quality of life. A thorough family and medical history is the basis for identifying families at high risk for genetic traits and diseases. Recognition is enhanced by awareness of diseases associated with certain racial, ethnic or geographic groups. Effective genetic screening requires close collaboration between physicians, public health officers and medical investigators.

Adult↗
PubMed1997

A genetic screen for mutations that disrupt an auditory response in Drosophila melanogaster.

Hearing is one of the last sensory modalities to be subjected to genetic analysis in Drosophila melanogaster. We describe a behavioral assay for auditory function involving courtship among groups of males triggered by the pulse component of the courtship song. In a mutagenesis screen for mutations that disrupt the auditory response, we have recovered 15 mutations that either reduce or abolish this response. Mutant audiograms indicate that seven mutants reduced the amplitude of the response at all intensities. Another seven abolished the response altogether. The other mutant, 5L3, responded only at high sound intensities, indicating that the threshold was shifted in this mutant. Six mutants were characterized in greater detail. 5L3 had a general courtship defect; courtship of females by 5L3 males also was affected strongly. 5P1 males courted females normally but had reduced success at copulation. 5P1 and 5N18 showed a significant decrement in olfactory response, indicating that the defects in these mutations are not specific to the auditory pathway. Two other mutants, 5M8 and 5N30, produced amotile sperm although in 5N30 this phenotype was genetically separable from the auditory phenotype. Finally, a new adult circling behavior phenotype, the pirouette phenotype, associated with massive neurodegeneration in the brain, was discovered in two mutants, 5G10 and 5N18. This study provides the basis for a genetic and molecular dissection of auditory mechanosensation and auditory behavior.

Animals↗
PubMed1997

Elevated hCG as an isolated finding during the second trimester biochemical screen: genetic, ultrasonic, and perinatal significance.

This study was undertaken in an attempt to determine the significance of elevated maternal serum human chorionic gonadotropin (MShCG), in the presence of an otherwise normal screen with respect to fetal malformations, chromosomal aberrations, and pregnancy outcome. Targeted ultrasound findings and perinatal outcome of 298 women in whom serum hCG was > or = 2.5 MOM and who were screen-negative for Down syndrome (the study group) were compared with a control group of 229 women in whom serum hCG as well as the other parameters were within the normal range. Genetic amniocentesis was performed in 125 women from the study group. Ultrasonically detected malformations were significantly more frequent among the study group (12 vs. 1, P = 0.01). Pregnancy complications were similar in the two groups, with the exception of pre-eclampsia-toxaemia, which was significantly more frequent in the study group (5 vs. 0, P = 0.02). There was one case of an abnormal karyotype (47,XXY). Although genetic amniocentesis does not appear warranted, isolated elevated MShCG levels during the second trimester screening was associated with an increased risk of fetal anomalies detected by ultrasound and of toxaemia of pregnancy.

Adult↗
PubMed2003

Process for producing the potential food ingredient DFA III from inulin: screening, genetic engineering, fermentation and immobilisation of inulase II.

Difructose anhydride (DFA III) is a new potential sweet food additive. A screening was undertaken to isolate bacterial strains for conversion of inulin to DFA. Of special interest were thermotolerant enzymes. Some 400 strains were investigated, among four of them produce DFA and strain Buo141 expresses an extracellular enzyme which is stable at elevated temperatures. Based on metabolic data and 16S-rRNA-sequencing, the strain was identified as a new Arthrobacter species. For increased enzyme production, the inulase gene was cloned into E. coli XL1-blue, inulase II was expressed and its activity detected. After identifying the cleavage site, the sequence coding for a signal-peptide was eliminated from the plasmid and a beneficial amino acid exchange introduced by error-prone PCR. The recombinant E. coli was fermented to 10.5 g/l and after disruption an activity of 1.76 MioU/l was observed. The enzyme was flocculated from supernatant and entrapped in calcium alginate hydrogels. To enable production of uniform and small beads JetCutter technology was used with a production rate of 5600 beads/(snozzle). The influence of bead diameter on activity was investigated. An activity of 196 U/g was measured for 600-microm beads.

Amino Acid Substitution↗