川西北草原土壤硼、锰丰缺状况初探

根据110余个表层土壤样品硼、锰含量的测定结果和土壤缺乏硼、锰的临界值指标,探究了川西北草原土壤中硼、锰的有效性及其丰缺状况.结果表明,本区土壤中全硼全锰含量丰富分别达166.0ppm和736.6ppm,但有效硼和锰的含量仅分别为0.45ppm和5.11ppm,土壤缺乏硼和锰比较普遍.为该区推广施用硼、锰微肥提供了初步的科学依据.     

镉、汞、铅在体内对氨基酸掺入微粒体的特异性抑制作用

本实验采用DL-(~3H)-亮氨酸作为蛋白质合成的原料,从亚细胞水平观察镉、汞、铅在动物体内对肝脏各亚细胞组分蛋白合成的影响。实验结果表明,给雄性大鼠腹腔一次注入2.4mg/kg醋酸镉后72h和一次注给2.0mg/kg氯化汞或100mg/kg醋酸铅后24h,均可不同程度地抑制DL-(~3H)-亮氨酸掺入微粒体蛋白,而对其它组分包括细胞核、线粒体、去微粒体后上清液蛋白中DL-(~3H)-亮氨酸的掺入无明显影响。     

First-trimester diagnosis of an unusual case of α-mannosidosis

Chorionic villi obtained in the first trimester from a pregnancy at risk for α-mannosidosis were shown to have reduced α-mannosidase (EC 3.2.1.24) activity. The pregnancy was terminated and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of α-mannosidosis. Like the enzyme in the child's fibroblast, α-mannosidase of the chorionic villi from a pregnancy at risk for α-mannosidosis was activated by high substrate concentration and by Zn^{2 +}, and displayed a K_m value two-fold higher than normal. Our results confirm that chorionic villi can be used for early prenatal diagnosis of α-mannosidosis.     

Prenatal exclusion of Hurler's disease by leucocyte α-L-iduronidase assay

Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic-centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate.     

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha-1-antitrypsin

The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.     

四川盆地土壤微量元素生态类型研究

本研究从生态学观点出发,根据土壤缺乏微量元素的临界值指标,探究了四川盆地土壤微量元素的生态类型,按其土壤供给有效态微量元素的丰缺程度,将本区土壤微量元素分为五种生态类型:严重缺乏、缺乏、适中、丰富和很丰富。统计结果表明,四川盆地各类土壤的微量元素生态类型特点为:有效硼含量很低,普遍严重缺硼;有效锌含量亦低,近半数土壤缺锌;多数土壤有效锰含量丰富,仅少部分土壤供锰不足;有效铜和铁的含量丰富。     

Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing

HLA typing of amniotic fluid cells has been used for the prenatal diagnosis of the HLA linked diseases congenital adrenal hyperplasia (21-OH-deficiency (21-OH-def) type) and complement C4 deficiency and it has also been used for the prenatal de termination of paternity. There are, however, technical difficulties in this test associated with the weak expression of some B locus antigens on amniotic fluid cells, and theoretical difficulties related to associations between particular HLA antigens and the 21-OH-def allele. Since certain HLA-B locus antigens are found in significantly increased frequencies among patients with 21-OH-def, there is a relatively high incidence of HLA-B homozygosity among the patients and over 40 percent of the parents of these patients share one or more HLA-B locus antigens. Results of some prenatal HLA typing tests may thus be difficult to interpret, and supplementary tests should be used whenever possible. HLA typing of amniotic cells is, however, the only available procedure for prenatal diagnosis of C4 deficiency and it is the best available procedure for prenatal determination of paternity. A modification of our original procedure allows HLA typing to be performed with increased numbers of HLA typing sera, and sera with optimum reactivity for amniotic fluid cells have now been selected for the definition of most of the more commonly expressed HLA antigens. Although amniotic fluid cells do not express DR antigens, amniotic fluid cells can be typed for the HLA-linked marker glyoxalase I (GLO) and this may be the informative for prenatal diagnosis in some cases.