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41.
The antimutator phenotype, reportedly conferred by disruption of the Saccharomyces cerevisiae DDR48 gene, was suggested to affect only a specific spontaneous mutational pathway. We attempted to identify the types of mutation that are DDR48-dependent by determining the specificity of the ddr48 antimutator. However, disruption of DDR48 did not decrease the rates of spontaneous forward mutation in a plasmid-borne copy of the yeast SUP4-o gene, the reversion or suppression of the lys2–1 allele, or forward mutation at the CAN1 locus. Interestingly, the latter gene had been reported previously to be subject to the antimutator effect. DNA sequence analysis of spontaneous SUP4-o mutations arising in DDR48 and ddr48 backgrounds provided no evidence for a reduction in the rates of individual mutational classes. Thus, we were unable to verify that disruption of DDR48 causes an antimutator phenotype. 相似文献
42.
T. Ariga Y. Sakiyama K. Tomizawa S. Imajoh-Ohmi S. Kanegasaki S. Matsumoto 《European journal of pediatrics》1993,152(6):469-472
Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57. 相似文献
43.
How may clonality be assessed in human tumours? 总被引:1,自引:0,他引:1
44.
45.
30例新鲜胃癌标本,采用多聚酶链反应技术检测人类乳头瘤病毒16、18感染、并采用多聚酶链反应-单链构象多态性技术对p53基因突变进行检测。结果:HPV15阳性率为40.0%,未发现HPV18感染:P53基因突变率为50.0%,HPV16感染和P53基因突变同时存在者为16.7%。 相似文献
46.
Summary;To investigate the distribution of possible novel mutations from parkin gene in variant sub-set of patients with Parkinson’s disease(PD)in China and explore whether parkin gene plays an im-portant role in the pathogenesis of PD,70 patients were divided into early-onset group and late-onsetgroup; 70 healthy subjects were included as controls.Genomic DNA from 70 normal controls andfrom those of PD patients were extracted from peripheral blood leukocytes by using standard proce-dures.Mutations of parkin gene(exon 1—12)in all the subjects were screened by PCR-single strandconformation polymorphism(SSCP),and further sequencing was performed in tue samples with ab-normal SSCP results,in order to confirm the mutation and its location.A new missense mutationGly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 pa-tients were found.All the DNA variants were sourced from the samples of the patients with early-on-set PD.It was concluded that Parkin point mutation a 相似文献
47.
48.
Detectionofpre-CregionmutantsofhepatitisBvirusfromHBeAgnegativepatientsinXi'anareaofChinaHanJie(韩捷);YanYan(阎岩);DingZhenruo(丁振... 相似文献
49.
使用赤灵芝的水提取液、乙醇(30%)提取液进行鼠伤寒沙门氏菌回复、小鼠骨髓多染红细胞微核和雄小鼠精子畸变等三种致突变试验。剂量为1000μg.皿^-1和5000μg/皿^-1的鼠伤寒沙门氏菌回复试验的结果为阴性。小鼠在服用7500mg.kg^-1的水提取液或2500mg.kg^-1的醇提取液时,微核试验和精子畸变试验结果均为阴性。 相似文献
50.
T K Al-Hussaini D M Abd el-Aal I B Van den Veyver 《International journal of gynaecology and obstetrics》2003,83(2):179-186
OBJECTIVES: To present a series of women with recurrent molar pregnancies, including rare familial cases, and discuss etiology and treatment options. METHODS: We performed a detailed clinical evaluation and pedigree analysis of five Egyptian women with recurrent pregnancy loss due to molar pregnancy. RESULTS: The women had a history of four to nine consecutive hydatidiform moles but of no viable pregnancies. Two of the women had molar pregnancies with different husbands who themselves had viable offspring from previous wives; and three of them, who belonged to a family with extensive intermarriage, had a pedigree consistent with an autosomal recessive maternal-effect mutation. CONCLUSIONS: Recurrent pregnancy loss due to habitual molar pregnancy is uncommon and familial cases are extremely rare. The etiology of this disorder is not well understood but likely results from a maternal-effect mutation. Management options are limited, especially for couples who desire to have their own genetic offspring. 相似文献