海洋现代沉积速率~（210）Pb－~（210）Bi法的射线测定研究

本文主要介绍了用~（２１０）Ｐｂ─~（２１０）Ｂｉ法测定海洋现代沉积速率和数据处理方法的研究。该方法测定的结果与~（２１０）Ｐｂ─~（２１０）Ｐｏ法和阴离子交换－ＥＤＴＡ纯化－硫酸钡镭沉淀－α计数法（简称~（２２６）Ｒａ法）以及厦门大学海洋系经研究改进的分离、纯化~（２１０）Ｐｂ的离子交换法的测定结果相当吻合。     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

Flow sorting of fetal erythroblasts using intracytoplasmic anti-fetal haemoglobin: Preliminary observations on maternal samples

Monoclonal antibody to fetal haemoglobin (a₂γy₂) has been proposed as a fetal-specific reagent. We developed an intracellular staining protocol that combines fluorescein isothiocyanate or phycoerythrin conjugated anti-γ with the DNA binding dye Hoechst 33342 to identify and flow sort fetal erythroblasts from maternal blood. Our preliminary observations on anti-γ-positive cells sorted from four different pregnant women are described here, using fluorescence in situ hybridization (FISH) with chromosome-specific probes to identify fetal cells. Our data demonstrate that far fewer candidate fetal cells are sorted with this protocol than by current cell surface staining methods that employ the monoclonal antibody CD71. This results in increased fetal cell sorting purities. With this protocol, standard FISH techniques require modification due to the rigorous fixation with 4 per cent paraformaldehyde. Our initial data indicate the promise of this approach.     

Sanfilippo D syndrome: Correction of glucosamine-6-sulphatase deficiency following fibroblast culture in chang's media

The de-O-sulphation of α-linked glucosamine-6-sulphate residues in heparan sulphate requires a specific sulphatase, glucosamine-6-sulphatase, which has been shown to be deficient in tissues of Sanfilippo D, or mucopolysaccharidosis type IIID (MPS IIID), patients. MPS IIID fibroblasts cultured in Basal Eagle's medium supplemented with either fetal calf serum or heat-inactivated fetal calf serum, MDCB or Ultraserg media had residual glucosarnine-6-sulphatase activities towards a heparin-derived trisaccharide substrate, O-(α-N-acetylglucosamine-6-sulphate)-(1→4)-L -O-(α-iduronic acid-2-sulphate)-(1→4)-D -O-2,5-anhydro [1-³H]mannitol-6-sulphate, GlcNAc6S-IdoA2S-anM6S, which were less than 1 per cent of the normal range for fibroblasts cultured in Basal Eagle's medium supplemented with fetal calf serum. However, the glucosamine-6-sulphatase activities of MPS IIID fibroblasts grown in Chang's medium were similar to the activities in normal control fibroblasts which were cultured in Basal Eagle's medium. These results indicate that caution is required for prenatal diagnosis of MPS IIID patients using chorionic villi or amniotic cells cultured in Chang's medium.     

Maternal serum thyroid antibodies in early pregnancy and fetal Down's syndrome

Thyroid antibodies were measured in mid-trimester antenatal serum samples from 77 pregnancies affected by fetal Down's syndrome and 385 unaffected control pregnancies. Using a haemagglutination technique, thyroglobulin antibodies were detected in 5·2 per cent of cases (4) and 2·9 per cent of controls (11), and thyroid microsomal antibodies were detected in 22 per cent (17) and 15 per cent (59), respectively. Using an enzyme-linked immunosorbent assay (ELISA) for thyroglobulin antibodies and a cut-off level of 50 KIU/1, positive results were found in 25 per cent of cases (19) and 22 per cent of controls (84). Using an ELISA for thyroid microsomal antibodies and the same cut-off level, the proportions were 52 per cent (40) and 39 per cent (149), respectively. While not statistically significant, the differences were consistent with the previously reported increased levels of thyroid antibody found in nonpregnant women who had had pregnancies associated with Down's syndrome.     

广东沿岸海域生物可利用性重金属的地理分布

利用牡蛎做监测生物，研究了广东沿岸海域生物可利用性重金属Ｃｄ，Ｃｕ和Ｚｎ的地理分布。牡蛎体的Ｃｄ，Ｃｕ和Ｚｎ含量存在着显著的地域差异，反映了广东沿岸海域生物可利用性的Ｃｄ，Ｃｕ和Ｚｎ在地域上存在很大的梯度。由牡蛎显示出的广东沿岸海域生物可利用性重金属的地理分布与广东沿岸海域受人为来源的重金属输入状况相一致，如实地反映了广东沿岸海域重金属污染的基本特征。     

水深变化对波高与周期联合概率密度分布影响的分析

本文研究了水深的变化以波高与周期联合概率密度分布造成影响。本文将２３６组实测数据按水深因子Ｈ的大小进行了分组，分别对其进行了谱分析和统计分析，得到了各组数据的联合分布图。利用数值模拟的方法扩大水深因子的变化幅度，得到了模拟联合分布图。研究发现，水深因子的改变不会对联合分布构成大的影响，因此得现一般水的波高与周期联合概率密度分布模式适用于浅海的结论。     

Maternal serum inhibin levels in second-trimester down's syndrome pregnancies

Maternal serum inhibin levels were measured in 19 second-trimester pregnancies affected by fetal Down's syndrome and 95 unaffected control pregnancies matched for gestational age. A statistically significant elevation was found in the affected pregnancies compared with the controls (Wilcoxon rank sum test: one-tail P=0·02). The median level in the cases was 1·3 times that in the controls, with 95 per cent confidence limits of 0·9–1·9. Although the inhibin levels were unrelated to those of alpha-fetoprotein and unconjugated oestriol in the same samples, there was a statistically significant correlation with human chorionic gonadotropin. This together with the relatively small elevation in cases suggests that inhibin would be of limited value in maternal serum screening for Down's syndrome.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y

A case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy.