Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

In this study, we describe a simple strategy to detect β-thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non-radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.     

Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism

Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.     

一种新的拓扑指数及其在有机化合物结构/性质相关性研究中的应用

以距离矩阵为基础，提出一种表征化合物分子结构的拓扑指数，并将其用于预报饱和链烃类、醇类和含氮芳香类化合物的性质和活性，获得了满意的结果。     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

长江中下游成矿侵入岩的特征研究

长江中下游的侵入岩体，尤其是燕山期的侵入岩体面广量大．它们与区内铜、铁、金等矿产关系密切。本文通过对侵入岩体地质特征、岩石化学成分等对比研究后，总结出如下几个特点：1、侵入体主要形成时代为135-95Ma，自西向东有逐渐变新的趋势；2、与成矿有关者多数是复式岩体，与铜矿化有关的主要是燕山早期侵入岩，与铁矿化有关的则主要是燕山晚期侵入岩；3、多数岩体受到过中、下三叠统蒸发岩层（膏盐层）的同化混染；4、岩体含碱质高，在Na2O－SiO2关系图上显示出二者没有相关性；5、侵入体中的铜有可能提供部分铜矿床的物源；6、岩石化学成分上某些组分的对比研究表明，成铜矿与成铁矿岩体之间、成矿岩体和无矿岩体之间有一定程度的差异。     

富营养化水体治理与修复的环境生态工程——利用明矾浆和鱼类控制桥墩水库蓝藻水华

1997年和 1998年夏季桥墩水库相继发生大面积蓝藻水华 .1998年 9月 1m2 水面喷洒 38 8g改性明矾浆应急除藻 ,当年蓝藻水华基本消失 .1998年底和 1999年初 ,1hm2 水面放养尾重 2 0g左右鲢、鳙鱼种 12 0 0尾 .1999年仅局部发生蓝藻水华 ,8月份水库浮游蓝藻数量比 1998年同期下降 77 7% ,透明度提高 1 5m ;2 0 0 0和 2 0 0 1年水库不再出现蓝藻水华 ,水体表观质量明显提高 ,与 1998年 8月同期比较 ,透明度提高 2 4m ,总氮下降 6 1 1% ,总磷下降 5 9.4 % ,浮游蓝藻总量由 1998年的 10 4 35 5× 10 4个细胞 L下降至 14 3 3× 10 4个细胞 L ,蓝藻个体数量比例从 1998年的 99 2 %下降至 31 5 % .水体富营养状况从治理前的中—富营养类型恢复到中—贫营养类型 .     

土壤中嗪草酮迁移和降解的研究

 通过两季马铃薯大田试验，研究了嗪草酮在灌溉沙壤土中的消失和移动情况。结果表明，表层土壤中，嗪草酮施用后最初7～15天内其含量急剧降低，此后随时间推移降低幅度平缓，1993年和1994年试验结束时的残留量分别为5.9μg/kg和2.3μg/kg。两年共采集的379个土样（分布在15～75cm各土层）中只有5个检测到有嗪草酮。1994年大田135cm土层处的水样中，嗪草酮的检测率高达66％，检测浓度范围为0.06～15.85μg/kg，平均浓度为1.94μg/kg。相比较，嗪草酮在大田试验中的消失速率远大于实验室控制条件下的降解速率。     

低pH对草鱼血液酸碱平衡的影响

研究了低pH(6.0—4.0)对草鱼血液酸碱平衡、p_(o2)及p_(co2)的影响,结果表明,低pH引起草鱼严重的酸血症.亚致死pH(6.0—5.0)时,血液酸碱平衡的影响主要表现为碱贮备[HCO_3]的丧失,血液pH的明显下降经机体缓冲调节可趋于稳定.致死低pH(4.0)时,血液pN和[HCO_3]下降均非常显著,并在96h内随酸化时间延长而日趋严重.仅在pH≤4.0的酸水中草鱼存在低氧症影响问题.草鱼是一种酸敏感性鱼类,为确保成鱼在天然水体的生存和繁育,水质pH至少应维持在6.0以上.     

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker,IDIC(Yp)

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.     

Soil water characteristics in mountain poplar stand and its benefits to soil and water conservation in loess hilly region

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