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21.
We have determined the activity of alkaline phosphatase in chorionic villous tissue obtained in the first trimester of pregnancy, in order to obtain the normal range of values as a prerequisite for application to the prenatal diagnosis of the rare bone disease hypophosphatasia. The activities found were a combination of intestinal and liver/bone/kidney types; traces of placental type were present in only one sample. 相似文献
22.
Hopanoids are pentacyclic triterpenoid lipids occurring in bacteria. They are synthesized from isopentenyl units which are
formed in a new biosynthetic route leading to isopentenyl diphosphate. Six C5 units are joined to form squalene, the immediate precursor in hopanoid synthesis. In a highly complex cyclization reaction
that shares considerable similarities with that of oxidosqualene to sterols, the hopane skeleton is formed from squalene by
the squalene-hopene cyclase. Recent elucidation of the X-ray structure of this membrane-bound cyclase has shed some light
on the properties of this unusual enzyme. The active site is located in a cavity within the enzyme. The squalene substrate
diffuses through a channel structure from the membrane into this cavity and is there transformed into hopene. Polar side chains
are attached to hopene resulting in the amphiphilic molecular structure of many hopanoids. These hopanoids are membrane components
involved in regulating membrane fluidity and stability. However, the many structural variants of hopanoids indicate that they
may have other interesting but as yet unknown functions. 相似文献
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B. Sikkema-Raddatz R. H. Sijmons M. B. Tan-Sindhunata A. Y. Van Der Veen R. Brunsting B. De Vries J. R. Beekhuis D. J. Bekedam B. Van Aken B. De Jong 《黑龙江环境通报》1995,15(5):467-473
We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development. 相似文献
29.
Frans J. Los MD PhD Diane Van Opstal Martin P. Schol Johannes L. J. Gaillard Helen Brandenburg Ans M. W. Van Den Ouweland Peter A. In 'T Veld 《黑龙江环境通报》1995,15(12):1155-1159
A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome. 相似文献
30.
M. Van Blerk MD J. Smitz L. De Catte C. Kumps J. Van Der Elst A. C. Van Steirteghem 《黑龙江环境通报》1992,12(12):1062-1066
This study explores if assay of cancer antigen 125 (CA 125) in maternal serum might aid the detection of Down's syndrome in the second trimester of pregnancy. CA 125 levels were determined retrospectively in stored maternal serum samples from ten Down's syndrome pregnancies and 78 controls matched for gestational and maternal age. In addition, second-trimester amniotic fluid samples from nine Down's syndrome and 109 unaffected pregnancies were analysed for CA 125. Maternal serum CA 125 values for Down's syndrome pregnancies were lower, with the median being 0.72 multiples of the unaffected population median. The medians for affected and unaffected pregnancies did not differ significantly and there was a considerable overlap in the range of values of cases and controls. The distribution of amniotic fluid CA 125 levels for Down's syndrome pregnancies resembled that for controls. From our present results, we could not find an association between Down's syndrome and second-trimester maternal serum or amniotic fluid CA 125 levels. 相似文献