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1.
J Arthropod Borne Dis ; 6(1): 45-53, 2012.
Article in English | MEDLINE | ID: mdl-23293778

ABSTRACT

BACKGROUND: Organophosphorus pesticides are one of the most consumable poisons. Such poisons can enter water sources by different routes. Since consuming some drinking water containing an amount of poison higher than the standard level, causes undesirable effects on human health. This research aimed to study the effectiveness of eliminating malathion from water by ultraviolet irradiation (UV) mercury lamp with a medium pressure. METHODS: In this experimental- applied study, variants of initial pHs and initial concentrations and exposure times were investigated. Initial concentrations of malathion were 0.5, 1 and 2 mg/l. The samples were then exposed to UV irradiation interruptedly the time periods of 10, 20, 30, 40, 50 and 60 minutes. The UV lamp used in the reactor was medium pressure (irradiation intensity= 200 W/m(2)). The amounts of malathion were determined before and after the irradiation by HPLC instrument. Moreover, the results obtained from the study were analyzed using SPSS software and ANOVA and t-test statistical trials. RESULTS: The minimum reduction occurs at 10 min (46%) and the maximum reduction in 60 min (87.25%) (P< 0.05). In addition, the effectiveness of irradiation process decreases with increasing the poison concentration (P< 0.001). However, the efficiency of the process increases with pH increase. CONCLUSION: The results show the most effectiveness were achieved at 60 min and 0.5 mg/l and pH= 9. Therefore, the application of UV reactors could be considered as an appropriate method.

2.
J Insect Sci ; 12: 152, 2012.
Article in English | MEDLINE | ID: mdl-23461394

ABSTRACT

Cantharidin, a potent vesicant and antifeedant agent, is produced by two families of beetles, Meloidae and Oedemeridae (Coleoptera). In this study, the cantharidin content of oedemerid beetles of central Iran was investigated using the GC-MS method. Cantharidin in both sexes of Oedemera podagrariae ventralis Meïneïtrieãs (Oedemeridae) was found in an average of 3.89 µg/beetle in males and 21.68 µg/beetle in females, which are amounts sufficient to irritate human skin. The average of cantharidin in virgin and coupled beetles was 1.35 and 1.62 (µg cantharidin/mg of beetle) respectively. Females had five to six times more cantharidin in their bodies than males, but there was no significant difference between the amount of cantharidin in virgin and coupled females. The results of this study revealed the production of cantharidin in both sexes of beetle.


Subject(s)
Cantharidin/analysis , Coleoptera/chemistry , Irritants/analysis , Animals , Female , Gas Chromatography-Mass Spectrometry , Humans , Iran , Male
3.
Iran J Public Health ; 40(4): 122-8, 2011 Dec.
Article in English | MEDLINE | ID: mdl-23113111

ABSTRACT

BACKGROUND: Organophosphorus pesticides are one of the most prevalent usages for pest control in the country. Such pesticides enter into water sources by different routes. Since drinking of contaminated water at the higher doses than the standard level, may causes undesirable effects to human health and ecosystem. The object of this research was to investigate the effect of various parameters including time, power and concentration on sonodecomposition of malathion insecticide in the water. METHODS: The sonochemical degradation of malathion was investigated using acoustic wave technology (AWT). AWT with 130 kHz was used to study the decomposition of insecticide solution. Samples were analyzed using HPLC at different intervals times. Effectiveness of AWT at different times (20, 40, 60, 80, 100, and 120 minutes), concentrations of malathion at 2, 4 and 8 mg/L as well as powers of device (300W, 400W, 500W) are compared. RESULTS: These findings showed that the degradation of the malathion insecticide at lower concentrations was greater in comparison to higher concentrations. Also, there was positive correlation between power increasing and the ability to malathion degradation CONCLUSION: The sonodegradation of malathion at different concentrations and powers was successfully achieved. It has been shown that acoustical wave technology can be used to reduce the concentration of dissolved insecticide using high frequency.

4.
Iran J Arthropod Borne Dis ; 5(2): 10-22, 2011.
Article in English | MEDLINE | ID: mdl-22808414

ABSTRACT

BACKGROUND: Malaria and leishmaniasis are two most significant parasitic diseases which are endemic in Iran. Over the past decades, interest in botanical repellents has increased as a result of safety to human. The comparative efficacy of essential oils of two native plants, myrtle (Myrtus communis) and marigold (Calendula officinalis) collected from natural habitats at southern Iran was compared with DEET as synthetic repellent against Anopheles stephensi on human subjects under laboratory condition. METHODS: Essential oils from two species of native plants were obtained by Clevenger-type water distillation. The protection time of DEET, marigold and myrtle was assessed on human subject using screened cage method against An. stephensi. The effective dose of 50% essential oils of two latter species and DEET were determined by modified ASTM method. ED(50) and ED(90) values and related statistical parameters were calculated by probit analysis. RESULTS: The protection time of 50% essential oils of marigold and myrtle were respectively 2.15 and 4.36 hours compared to 6.23 hours for DEET 25%. The median effective dose (ED(50)) of 50% essential oils was 0.1105 and 0.6034 mg/cm(2) respectively in myrtle and marigold. The figure for DEET was 0.0023 mg/cm(2). CONCLUSION: This study exhibited that the repellency of both botanical repellents was generally lower than DEET as a synthetic repellent. However the 50% essential oil of myrtle showed a moderate repellency effects compared to marigold against An. stephensi.

5.
Iran J Arthropod Borne Dis ; 4(1): 47-53, 2010.
Article in English | MEDLINE | ID: mdl-22808388

ABSTRACT

BACKGROUND: Carbaryl (1-naphthyl-N-methyl carbamate) is a chemical in the carbamate family used chiefly as an insecticide. It is a cholinesterase inhibitor and is toxic to humans and classified as a likely human carcinogen. In the present study, the degradation of the carbaryl pesticide was investigated in the laboratory synthetic samples of tap water, in the effect of sonolysis and photolysis processes. METHODS: This study was conducted during 2006-7 in Chemistry and Biochemistry of Pesticides Laboratory in Tehran University of Medical Sciences (TUMS) in Iran. The carbaryl (80%) was used for preparing samples. First concentration of all samples were 4 mg/l. Sonochemical examinations in ultrasound reactor was done in two 35, 130 Hz, and 100 w, and three time. Photolysis examinations has done in the effect of 400 w lamp and moderate pressure and 6 time, then the amount of pesticide in the samples has been measured by the High Performance Thin Layer Chromatography (HPTLC) method. RESULTS: The highest degradation in photolysis process after 1 hour in the 35 KHz was 35%, and in the 130 KHz was 63%. Degradation of carbaryl at 130 KHz is higher than 35 KHz at the same time. Carbaryl elimination was increased by arise frequency and exposure time. After 8 min in photolysis, 100% omitting has been showed. CONCLUSION: Degradation of carbaryl in high frequency ultrasound wavelength was more than low frequency. Degradation of carbaryl in water, combination of high frequency ultrasound wave length and UV irradiation was considerably more effective than ultrasound or ultraviolet irradiation alone.

6.
Iran J Arthropod Borne Dis ; 4(1): 42-6, 2010.
Article in English | MEDLINE | ID: mdl-22808387

ABSTRACT

BACKGROUND: Pediculus capitis (Anoplura: Pediculidae) or head louse is an obligate ectoparasite transmitted mainly through physical contact. This study was conducted to survey the prevalence of head lice infestation rate and some risk factors in Primary School pupils, in Khajeh City East Azerbaijan Province, Iran METHODS: We selected 20 primary schools of Khajeh City during 2008 and 2009. Totally 500 pupils including 200 boys and 300 girls from all grade 1-5 were selected by multistage, systematic random sampling in rural areas of Khajeh City and were examined for lice. In addition, a standard questionnaire recorded information about demographic features of each pupil. Results were analyzed by SPSS software. RESULTS: The total prevalence of head lice infestation in this study was 4.8%. and the prevalence rate was significantly higher in girls (6.66%) than in boys (2%). Epidemiological factors such as: sex, school grade, family size, parent's education, type of house, hair washing (per week), number of using comb per day, were evaluated and results showed significant difference in head lice infestation and sex, school grade, family size, father education, and type of house (P< 0.05). CONCLUSION: Pediculosis is a public health problem in many parts of the world, and due to the higher prevalence of pediculosis in crowded families, family by lower levels of father's education and socioeconomic status in our study and rural area, it is necessary to give health education for families to prevent of pediculosis in this area.

7.
Iran J Arthropod Borne Dis ; 4(2): 11-8, 2010.
Article in English | MEDLINE | ID: mdl-22808395

ABSTRACT

BACKGROUND: Since organophosphorus pesticides are widely used for industry and insect control in agricultural crops, their fate in the environment is very important. Pesticide contamination of surface water has been recognized as a major contaminant in world because of their potential toxicity towards human and animals. The objective of this research was to investigate the influence of various parameters including the influence of time, power, and initial concentration on degradation of diazinon pesticide. METHODS: The sonochemical degradation of diazinon was investigated using acoustical processor reactor. Acoustical processor reactor with 130 kHz was used to study the degradation of pesticide solution. Samples were analyzed using HPLC at different time intervals. Effectiveness of APR at different times (20, 40, 60, 80, 100, and 120 min), concentrations (2, 4 and 8 mg/L) and powers (300W, 400W, 500W) were compared. RESULTS: The degradation of the diazinon at lower concentrations was greater in comparison to higher concentrations. There was also direct correlation between power and diazinon degradation. In addition, when the power increased, the ability to degraded diazinon increased. CONCLUSION: The sonodegradation of diazinon pesticide at different concentrations and powers was successfully provided. It has been shown that APR can be used to reduce the concentration of dissolved pesticide using high frequency.

8.
Pak J Biol Sci ; 12(9): 696-701, 2009 May 01.
Article in English | MEDLINE | ID: mdl-19634473

ABSTRACT

In this study whole blood cholinesterase activities of the agriculture and hygiene spray workers exposed to organophosphorus and carbamate compounds from different parts of Tehran Province in Iran were determined. Lovi Bond method was used in three stages including prepare the questionnaires about spray worker body health conditions, taking their blood samples before and after working and their insight to insecticides and prepare the required solutions. Results showed that no any changes were observed in the 50% of the spray worker blood cholinesterase activity after working. In the 32.4% of them, cholinesterase activity has decreased up to extensive poisoning and in the 17.6% of them cholinesterase activity was much decreased at the end of an acute or severe poisoning, whereas in testifier workers less than 5.9% of them cholinesterase activity was decreased and in the 94.1% of testifier workers cholinesterase activity was normal. Analysis of the data demonstrated that no significant relationship between spray worker blood cholinesterase activity, age groups, history of working, knowledge, cigarette smoking, history of toxicity and their responsibilities were observed. The measurement of pre-exposure cholinesterase values is essential for comparison of the values after pesticide application.


Subject(s)
Agricultural Workers' Diseases/enzymology , Carbamates/poisoning , Cholinesterases/blood , Insecticides/poisoning , Occupational Exposure , Organophosphate Poisoning , Adult , Humans , Iran , Middle Aged , Surveys and Questionnaires , Young Adult
9.
Pak J Biol Sci ; 12(8): 643-7, 2009 Apr 15.
Article in English | MEDLINE | ID: mdl-19634490

ABSTRACT

The present study investigated the probable responsible reasons for non-response the B. germanica to permethrin only in World Health Organization glass jar method after insecticide spraying control failure with pyrethroid insecticide groups in Islamic Republic of Iran. Eleven German cockroach strains were collected from field populations of nine infested kitchen student dormitories and two infested hospitals after insecticide spraying control failure with pyrethroid insecticide groups in Iran. The current study, in World Health Organization glass jar and knock down methods conducted on newly emerged adult males. All feral strains, with various levels of resistance to pyrethroids, in World Health Organization glass jar method at 400 min (6 h) time exposures, was not observed mortality, while the susceptible strain was observed 100% mortality in 25 min time exposures. Susceptible strain at LT50 after assessing on mortality data from the replicates by probit analysis in World Health Organization glass jar method was 15.3 min. In this study, all feral strains in World Health Organization glass jar method after 400 min (6 h) time exposures, was not observed mortality, that showed these strains very high-level resistance to permethrin. In the knock down method, the resistance ratios were 3.6 to 26.1-folds compare with the susceptible reference strain. In a comparison, among this study and previous studies resistance ratios of 8.6 to 17.7-folds for permethrin in topical application, indicated that German cockroach have had under pressure spraying. German cockroach have had in vicinity to pyrethroid insecticides especially permethrin in these locations in long period for non-responding to permethrin insecticide only in World Health Organization glass jar method, and the field evident confirm this subject.


Subject(s)
Blattellidae/drug effects , Insecticide Resistance/physiology , Permethrin/pharmacology , Pyrethrins/pharmacology , Animals , Insect Control/methods , Iran , Male
10.
Iran J Arthropod Borne Dis ; 3(1): 1-7, 2009.
Article in English | MEDLINE | ID: mdl-22808366

ABSTRACT

BACKGROUND: The control of leishmaniasis, a tropical neglected disease, has been concern of Iranian health authorities due to the increasing number of cases during the last two decades. The objective of this study was to determine deltamethrine residue on the impregnated bed nets using HPTLC technique in a leishmaniasis control program in Iran. METHODS: During this experimental study, a total of 130 small pieces of polyester netting were sewn to top, upper, and lower sides of some bed nets and then were impregnated with deltamethrin. The treated bed nets were distributed in Isfahan and Mashhad areas in April 2003. The samples were cut randomly after impregnation intervals. Deltamethrin was extracted using acetone from samples and the extract was applied for spotting onto plates. The plates were developed with n-hexane: ethyl acetate, 90+10(v/v), as a mobile phase in a Camage chamber. The qualifying of residue was observed in UV cabinet with λ=254 nm wavelength. Data were analyzed using SPSS version 11.5. and Stata Version 8. A three way ANOVA was used to compare the means of deltamethrin residue in each area, group and measuring time. The Kruskal-Wallis test was used to compare the means of residue for each of these factors with the control separately. RESULTS: The retardation factor of deltamethrin was calculated 0.50±0.02. The residues of deltamethrin persisted well on impregnated nets at least for 15 weeks after impregnation. No significant difference could be detected in the loss of residue of insecticide in comparison to measuring times and positions of sampling pieces on the bed nets in these areas. CONCLUSION: Based on the results of the present study the use of HPTLC technique is recommended instead of other chromatographic methods for analysis of insecticide residue on the impregnated bed nets.

11.
FEBS Lett ; 581(14): 2599-604, 2007 Jun 12.
Article in English | MEDLINE | ID: mdl-17509573

ABSTRACT

A Xenopus oocyte heterologous expression system was used to characterise iron transport properties of two members of the solute carrier 11 (slc11) protein family isolated from rainbow trout gills. One cDNA clone differed from the trout Slc11alpha containing an additional 52bp in the exon between transmembrane domains (TM) 10 and 11. The 52bp contained a stop codon, resulting in a novel isoform lacking the last two TM (termed slc11gamma). Slc11gamma and another isoform slc11beta, import Fe(2+) at external pHs < or = to 7.4. Trout slc11beta Fe(2+) import was more sensitive to inhibition by divalent metals. The novel vertebrate slc11gamma isoform functions without TM11 and 12.


Subject(s)
Cation Transport Proteins/genetics , Iron/metabolism , Oncorhynchus mykiss/genetics , Animals , Biological Transport/drug effects , Cation Transport Proteins/physiology , DNA, Complementary/chemistry , DNA, Complementary/genetics , Dose-Response Relationship, Drug , Female , Hydrogen-Ion Concentration , Iron/pharmacokinetics , Metals/pharmacology , Molecular Sequence Data , Oncorhynchus mykiss/metabolism , Oocytes/drug effects , Oocytes/metabolism , Protein Isoforms/genetics , Protein Isoforms/physiology , Sequence Analysis, DNA , Xenopus
12.
J Membr Biol ; 206(1): 3-7, 2005 Jul.
Article in English | MEDLINE | ID: mdl-16440176

ABSTRACT

To investigate the functional significance of mutations in Ferroportin that cause hereditary iron overload, we directly measured the iron efflux activity of the proteins expressed in Xenopus oocytes. We found that wild type and mutant Ferroportin molecules (A77D, N144H, Q248H and V162Delta) were all expressed at the plasma membrane at similar levels. All mutations caused significant reductions in (59)Fe efflux compared to wild type but all retained some residual transport activity. A77D had the strongest effect on (59)Fe efflux (remaining activity 9% of wild-type control), whereas the N144H mutation retained the highest efflux activity (42% of control). The Q248H and V162Delta mutations were intermediate between these values. Co-injection of mutant and wild-type mRNAs revealed that the A77D and N144H mutations had a dominant negative effect on the function of the WT protein.


Subject(s)
Cation Transport Proteins/genetics , Cation Transport Proteins/metabolism , Hemochromatosis/genetics , Hemochromatosis/metabolism , Iron/metabolism , Oocytes/metabolism , Animals , Biological Transport, Active , Cells, Cultured , Humans , Mutagenesis, Site-Directed , Structure-Activity Relationship , Xenopus laevis
13.
Obes Res ; 9 Suppl 4: 228S-233S, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11707546

ABSTRACT

The recent World Health Organization (WHO) agreement on the standardized classification of overweight and obese, based on body mass index (BMI), allows a comparable analysis of prevalence rates worldwide for the first time. In Asia, however, there is a demand for a more limited range for normal BMIs (i.e., 18.5 to 22.9 kg/m(2) rather than 18.5 to 24.9 kg/m(2)) because of the high prevalence of comorbidities, particularly diabetes and hypertension. In children, the International Obesity Task-Force age-, sex-, and BMI-specific cutoff points are increasingly being used. We are currently evaluating BMI data globally as part of a new millennium analysis of the Global Burden of Disease. WHO is analyzing data in terms of 20 or more principal risk factors contributing to the primary causes of disability and lost lives in the 191 countries within the WHO. The prevalence rates for overweight and obese people are different in each region, with the Middle East, Central and Eastern Europe, and North America having higher prevalence rates. In most countries, women show a greater BMI distribution with higher obesity rates than do men. Obesity is usually now associated with poverty, even in developing countries. Relatively new data suggest that abdominal obesity in adults, with its associated enhanced morbidity, occurs particularly in those who had lower birth weights and early childhood stunting. Waist measurements in nationally representative studies are scarce but will now be needed to estimate the full impact of the worldwide obesity epidemic.


Subject(s)
Obesity/epidemiology , Adolescent , Adult , Body Constitution , Body Mass Index , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Obesity/classification , Obesity/complications , World Health Organization
14.
Biochem Soc Trans ; 29(Pt 2): 267-71, 2001 May.
Article in English | MEDLINE | ID: mdl-11356165

ABSTRACT

Liver microsomes contain two carnitine acyltransferase activities. One of these has properties closely corresponding to those of 88 kDa mitochondrial carnitine palmitoyltransferase-1 (CPT-1). Antisera against CPT-1 cross-react with an 88 kDa microsomal protein, suggesting that CPT-1 may be targeted to both microsomal and mitochondrial membranes. However, no experiments using cDNAs corresponding to CPT-1 involving in vitro translation with microsomes or involving in vivo COS-1 cell transfection provided any evidence to support this hypothesis.


Subject(s)
Carnitine Acyltransferases/metabolism , Malonyl Coenzyme A/metabolism , Microsomes, Liver/enzymology , Animals , Carnitine O-Palmitoyltransferase/metabolism , Endoplasmic Reticulum/enzymology , Endoplasmic Reticulum/metabolism , Liver/enzymology , Liver/metabolism , Microsomes, Liver/metabolism , Mitochondria/enzymology , Mitochondria/metabolism , Protein Isoforms/metabolism , Protein Transport
15.
Biochim Biophys Acta ; 1416(1-2): 109-18, 1999 Jan 12.
Article in English | MEDLINE | ID: mdl-9889340

ABSTRACT

The characteristics of hypoxanthine transport were examined in opossum kidney (OK) epithelial cells and Xenopus laevis oocytes. In both cell types hypoxanthine influx was mediated by two distinct transport systems: a high-affinity Na+-dependent system and a Na+-independent transporter. Na+-dependent hypoxanthine transport in OK cells was saturable (Km 0.78+/-0.29 microM) and was inhibited by guanine, uracil, thymine and 5-fluorouracil (Ki values 0.5-7 microM), whereas adenine had no effect. Substitutions at the 2- and 4-position had a marked effect on the ability of uracil to inhibit Na+/hypoxanthine influx by OK cells revealing that an oxo group at both the 2- and 4-positions of uracil is required for interacting with the transporter. The properties of Na+-dependent hypoxanthine influx in oocytes were similar to those observed in OK cells. In particular, xanthine and oxypurinol inhibited hypoxanthine influx, a characteristic not observed previously for the Na+/nucleobase carrier in pig LLC-PK1 renal cells. Na+-independent hypoxanthine influx in OK cells and oocytes was of a lower affinity (Km 90-180 microM). Adenine and guanine inhibited Na+-independent hypoxanthine flux in OK cells, but had no effect in oocytes. Injection of LLC-PK1 mRNA into oocytes resulted in a 1.5-fold stimulation of Na+/hypoxanthine flux over water-injected oocytes. These results reveal further heterogeneity in Na+/nucleobase cotransporters.


Subject(s)
Carrier Proteins/biosynthesis , Hypoxanthine/metabolism , Kidney/metabolism , Oocytes/metabolism , Uracil/analogs & derivatives , Animals , Biological Transport/drug effects , Carrier Proteins/genetics , Epithelial Cells/metabolism , Microinjections , Opossums , RNA, Messenger/biosynthesis , RNA, Messenger/pharmacology , Sodium Chloride/pharmacology , Substrate Specificity , Uracil/pharmacology , Xenopus laevis
16.
Br J Cancer ; 78(7): 922-7, 1998 Oct.
Article in English | MEDLINE | ID: mdl-9764584

ABSTRACT

Of patients being treated by radiotherapy for cancer, a small proportion develop marked long-term radiation damage. It is believed that this is due, at least in part, to intrinsic individual differences in radiosensitivity, but the underlying mechanism is unknown. Individuals affected by the recessive disease ataxia telangiectasia (AT) exhibit extreme sensitivity to ionizing radiation. Cells from such individuals are also radiosensitive in in vitro assays, and cells from AT heterozygotes are reported to show in vitro radiosensitivity at an intermediate level between homozygotes and control subjects. In order to examine the possibility that a defect in the ATM gene may account for a proportion of radiotherapy complications, 41 breast cancer patients developing marked changes in breast appearance after radiotherapy and 39 control subjects who showed no clinically detectable reaction after radiotherapy were screened for mutations in the ATM gene. One out of 41 cases showing adverse reactions was heterozygous for a mutation (insertion A at NT 898) that is predicted to generate a truncated protein of 251 amino acids. No truncating mutations were detected in the control subjects. On the basis of this result, the estimated percentage (95% confidence interval) of AT heterozygous patients in radiosensitive cases was 2.4% (0.1-12.9%) and in control subjects (0-9.0%). We conclude that ATM gene defects are not the major cause of radiotherapy complications in women with breast cancer.


Subject(s)
Ataxia Telangiectasia/genetics , Breast Neoplasms/radiotherapy , Protein Serine-Threonine Kinases , Proteins/genetics , Ataxia Telangiectasia Mutated Proteins , Base Sequence , Cell Cycle Proteins , DNA-Binding Proteins , Dose Fractionation, Radiation , Female , Heterozygote , Humans , Molecular Sequence Data , Oligonucleotide Probes/genetics , Radiation Tolerance/genetics , Tumor Suppressor Proteins
17.
J Med Genet ; 35(2): 116-21, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9507390

ABSTRACT

Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of disease development. Since screening for mutations is still technically laborious, we investigated whether the prior probability of being a carrier of a dominant breast cancer susceptibility gene in the youngest affected family member could be used to identify families in which the probability of finding a mutation is sufficiently high. Sixty German families with three or more cases of breast/ovarian cancer with at least two cases diagnosed under the age of 60 were screened for mutations by SSCP/CSGE and subsequent direct sequencing. Thirteen germline truncating/splicing mutations in BRCA1 were found in 33% (6/18) of the breast-ovarian cancer families and in 17% (7/42) of breast cancer only families. All the families showing mutations in BRCA1 had carrier probabilities of 0.65 or higher. In families with prior carrier probabilities above 0.6, the proportion detected was 0.46 in breast-ovarian cancer families and 0.26 in breast cancer only families. The average age at diagnosis of breast or ovarian cancer in families with BRCA1 mutations was 41.9 years and significantly lower than in families without mutations (p < 0.05). Mutation carriers and obligate carriers were also found to have cancers at other sites. The probability of being a susceptibility gene carrier, taking into account the complete pedigree information, allows uniform characterisation of all types of families for identifying those in which mutation analysis for BRCA1/2 is warranted. However, prior probabilities calculated using this method can be reduced when the correlation between genotype and phenotype is imperfect. A larger series of families needs to be investigated in this fashion to provide better estimates of the detection rate for different ranges of carrier probabilities.


Subject(s)
Breast Neoplasms/genetics , Genes, BRCA1/genetics , Germ-Line Mutation/genetics , Heterozygote , Neoplastic Syndromes, Hereditary/epidemiology , Ovarian Neoplasms/genetics , Adult , Age of Onset , Aged , Breast Neoplasms/epidemiology , DNA Mutational Analysis , Female , Genetic Carrier Screening , Genetic Linkage , Germany/epidemiology , Humans , Incidence , Male , Middle Aged , Neoplastic Syndromes, Hereditary/genetics , Ovarian Neoplasms/epidemiology , Polymorphism, Single-Stranded Conformational , Risk Factors
18.
Am J Hum Genet ; 61(5): 1123-30, 1997 Nov.
Article in English | MEDLINE | ID: mdl-9345104

ABSTRACT

Thyroid goiter is a common condition that is often associated with iodine deficiency. Familial forms of goiter in areas not known to feature iodine deficiency are much less common. We have performed a genomic search on a single large Canadian family with 18 cases of nontoxic multinodular goiter in which 2 individuals also had papillary lesions highly suggestive of papillary carcinoma. A locus on chromosome 14q (MNG1 [multinodular goiter 1]) has been identified, with a maximal two-point LOD score of 3.8 at D14S1030 and a multipoint LOD score of 4.88 at the same marker, defined by D14S1062 (upper boundary) and D14S267 (lower boundary). The gene encoding thyroid-stimulating hormone receptor (TSHR), which is located on chromosome 14q, is outside the linked region. To determine the role of this gene in familial nonmedullary thyroid cancer (NMTC), we studied 37 smaller pedigrees each containing at least two cases of NMTC. Analysis by both parametric and nonparametric methods indicates that only a very small proportion of familial NMTC (point estimate 0.001, support intervals 0-.6 under a dominant model) is attributable to MNG1.


Subject(s)
Chromosome Mapping , Chromosomes, Human, Pair 14/genetics , Goiter, Nodular/genetics , Thyroid Neoplasms/genetics , Canada , Female , Genetic Linkage/genetics , Genetic Markers , Haplotypes/genetics , Humans , Lod Score , Male , Pedigree , Receptors, Thyrotropin/genetics , Thyroid Neoplasms/etiology
20.
Nucleic Acids Res ; 25(6): 1162-9, 1997 Mar 15.
Article in English | MEDLINE | ID: mdl-9092625

ABSTRACT

The fission yeast rad31-1 mutant is sensitive to both UV and ionising radiation and exhibits a growth defect at 35 degrees C. In addition, the mutant displays defects in cell morphology and nuclear division at 26 degrees C which are exaggerated at 35 degrees C. We have cloned the rad31 gene and have shown that it is not essential for viability, although cells containing a disrupted rad31 gene grow slowly. The null allele has similar cell and nuclear morphologies to the original allele and displays an extremely high frequency of loss of minichromosomes. rad31 is not required for either the S/M or G2/M checkpoint, however double mutant analysis indicates that rad31 acts in a process which is defective in the checkpoint rad mutants and which involves hus5 . Sequence analysis indicates that rad31 encodes a protein which is related to ubiquitin activating proteins and more particularly to an ORF in Saccharomyces cerevisiae and to the Arabidopsis thaliana AXR1 and human APP-BP1 genes. We have isolated the S.cerevisiae sequence, which we have named RHC31 ( ad31homologue in S. erevisiae), since we show that it can complement the slow growth phenotype and radiation sensitivity of S.pombe rad31.


Subject(s)
Arabidopsis Proteins , DNA Damage/genetics , Fungal Proteins/genetics , Growth Substances , RNA-Binding Proteins , Schizosaccharomyces pombe Proteins , Schizosaccharomyces/genetics , Ultraviolet Rays , Amino Acid Sequence , Arabidopsis/genetics , Chromosomes, Fungal/radiation effects , Cloning, Molecular , DNA Damage/radiation effects , DNA Primers , DNA-Binding Proteins/genetics , Dose-Response Relationship, Radiation , Fungal Proteins/biosynthesis , Fungal Proteins/chemistry , Gamma Rays , Humans , Molecular Sequence Data , Mutagenesis, Site-Directed , Nerve Tissue Proteins/genetics , Open Reading Frames , Plant Proteins/genetics , Polymerase Chain Reaction , Recombinant Proteins/biosynthesis , Recombinant Proteins/chemistry , Restriction Mapping , Saccharomyces cerevisiae/genetics , Schizosaccharomyces/growth & development , Schizosaccharomyces/radiation effects
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