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María M. E. de Bracco C. L. Christian R. M. Stroud 《Clinical and experimental immunology》1974,16(3):453-459
Monospecific neutralizing and precipitating antisera to C1r, a subunit of the first complement component, were obtained. These antisera neutralized C1r activity in purified preparations and in macromolecular C1 and did not react with C1q or C1s. They formed one line of precipitation in the β-globulin region with normal human serum, C1hu and C1r at various stages of purification. Using anti-C1r antiserum and a radial immunodiffusion technique, the concentration of C1r was determined in normal, SLE and RA sera. It was 101 μg/ml in normal sera and lower in sera of active SLE patients (69·7 μg/ml). No significant variations from normal were found in sera of SLE patients in periods of remission or in RA patients. 相似文献
6.
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB 总被引:8,自引:1,他引:8
Levy G; Levi-Acobas F; Blanchard S; Gerber S; Larget-Piet D; Chenal V; Liu XZ; Newton V; Steel KP; Brown SD; Munnich A; Kaplan J; Petit C; Weil D 《Human molecular genetics》1997,6(1):111-116
Usher syndrome is recognized as the most frequent cause of hereditary
deaf-blindness. Usher syndrome type I (USH1), the most severe form of the
disease, is characterized by profound congenital sensorineural deafness,
constant vestibular dysfunction, and retinitis pigmentosa of prepubertal
onset. This form is genetically heterogeneous and five loci (USH1A-E) have
been mapped thusfar. However, only the gene responsible for USH1 B (which
accounts for approximately 75% of USH1 cases) has been characterized. It
encodes a long-tailed unconventional myosin, myosin VIIA, with a predicted
2215 amino acid sequence. Primers covering the complete myosin VIIA coding
sequence as well as the 3' non coding sequence were designed, allowing
direct sequence analysis of each of the 48 coding exons and flanking splice
sites in seven patients affected by USH1. Four novel mutations were thereby
identified. The possibility should now be considered of a sequence-based
prenatal diagnosis in some of the families affected by this very severe
form of Usher syndrome.
相似文献
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Occurrence of infection with a parvovirus-like agent in children with sickle cell anaemia during a two-year period. 总被引:4,自引:2,他引:4
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M J Anderson L R Davis J Hodgson S E Jones L Murtaza J R Pattison C E Stroud J M White 《Journal of clinical pathology》1982,35(7):744-749
The occurrence of infection with a parvovirus-like agent during the period April 1979-May 1981 in children attending a single sickle cell clinic in London was investigated. Virus was detected in serum by counter-current immunoelectrophoresis (CIE) and immunoelectron microscopy (IEM). Viral antibody was detected by CIE and specific IgM antibody by an IgM-antibody capture assay. Of the 68 children studied nine presented in aplastic crisis and evidence of infection with the parvovirus-like agent at the time of the crisis was found in all nine. Eighteen of the other children were antibody-positive at some time during the study. In 11 children there was no evidence of recent infection; however, two of these had a history of aplastic crisis in previous years. The other seven seroconverted during the course of the study but did not show any haematological effects. Five of these had a primary infection, one appeared to have reinfection and in the seventh there were insufficient data to distinguish between the two. Possible explanations for the difference between those presenting with aplastic crisis and those with asymptomatic seroconversion are discussed. 相似文献
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Evolutionary silencing of the human elastase I gene (ELA1) 总被引:6,自引:0,他引:6
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Summary A well characterized strain of guinea pig cytomegalovirus (GPCMV) was used to infect pregnant guinea pigs during various periods of pregnancy. Transplacental transmission of virus with invasion of the fetus was observed, even in some mothers with preinoculation evidence of GPCMV antibody. Fetal infection occurred during the middle third of pregnancy and GPCMV was isolated from many fetal tissues although histologic evidence of infection was not noted. During the last third, abortion of the pregnancy occurred in some animals.This report demonstrates that GPCMV may invade the fetus producing a sublethal, possibly mild infection which may be very similar to the usual type of CMV infection observed in the human newborn. 相似文献