Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis

Two rare de novo structural aberrations of the Y chromosome were detected during routine prenatal diagnosis: a satellited non-fluorescent Y chromosome (Yqs), the first de novo Yqs to be reported in a fetus, and a terminal deletion of the Y chromosome long arm del(Y)(q11). In both cases detailed cytogenetic and molecular analyses were undertaken. In the case of the Yqs it was demonstrated by fluorescence in situ hybridization (FISH) that the satellites were derived from chromosome 15. In the case of the del(Yq), it was shown with molecular analysis by polymerase chain reaction (PCR) amplification of sequence-tagged sites (STS-PCR) that the deleted portion of the long arm of chromosome Y included the azoospermia factor loci, AZFb and AZFc. The clinical significance of these findings is discussed. Copyright © 2001 John Wiley & Sons, Ltd.     

化学沉淀分离-置换法提纯Al13的工艺研究

采用AlCl₃溶液和Na₂CO₃粉末在不同温度下制备了不同浓度的聚合氯化铝(PACl). 以选定的中等浓度、高Al₁₃含量的PACl为原液,研究了Al₁₃与硫酸盐沉淀反应过程中SO₄/Al摩尔比、反应体系起始总铝浓度的影响以及Al₁₃硫酸盐与Ba(NO₃)₂置换反应过程中的Ba/SO₄摩尔比、超声、温度等因素的影响. 实验结果表明,在制备温度为50℃条件下,浓度在0.4～0.6　mol/L范围的PACl含有较高的Al₁₃. 沉淀分离反应的最佳SO₄/Al摩尔比为0.6∶1;生成的 Al₁₃硫酸盐沉淀物为正四面体状晶体. 在Al₁₃硫酸盐与Ba(NO₃)₂溶液置换反应过程中,Ba/SO₄的最佳摩尔比为1∶1,反应温度及超声作用对置换反应的影响较小;提高Ba(NO₃)₂的起始浓度可以得到相应较高浓度的纯化Al₁₃溶液. 所得Al₁₃纯度的统计平均值为92.1％.     

Effect of interspecific competition on functional properties of plants in mountain-steppe communities of the Gobi

The isotope ratios δ¹³C and δ¹⁵N and the contents of nitrogen, carbon, and mineral substances have been studied in the leaves of Ephedra sinica, Allium polyrhizum, and Stipa glareosa plants growing separately or together under arid conditions of the Gobi (Mongolia). The contents of nitrogen, mineral substances, and δ¹⁵N have proved to decrease when these species grow together, providing evidence that they compete for environmental resources. The nitrogen content decreases to the greatest extent in E. sinica due to the low competitiveness of this species. The direction of change in δ¹³C in E. sinica is opposite to that in A. polyrhizum and S. glareosa. Differences in physiological mechanisms of adaptation to stress between these species provides a basis for attributing them to different functional groups and for predicting the result of their competition upon changes in climatic conditions.     

西南喀斯特流域风化作用季节性变化研究

以西南地区典型喀斯特流域,长江上游一级支流嘉陵江温塘峡段为例,连续2 a按月取样,并通过水化学分析、同位素分析等方法,研究得出嘉陵江温塘峡段水化学类型受地层控制,为HCO3--Ca型.在稀释作用的影响下,除HNO3-的浓度因受人类活动的影响雨季偏大外,其余大部分离子浓度雨季较旱季偏小.所有样品的(Ca2++Mg2+)/HCO3-(浓度比)在0.5～1之间,(Ca2++Mg2+)/(HCO3-+SO24-)(浓度比)大部分处于0.5～1之间,由此表明嘉陵江风化作用主要以碳酸的风化和硫酸风化碳酸岩盐为主,硫酸岩盐的风化为辅.根据同位素分析结果表明嘉陵江水中δ13CHCO-3值为-8.74‰～-7.36‰,δ34SSO2-4值旱季为14.43‰,雨季为12.21‰,表明硫酸对碳酸盐岩的风化作用和硫酸盐岩自身的风化作用在雨季均表现更强,其中,硫酸岩盐自身的风化作用在雨季强度更大,而旱季碳酸对碳酸盐岩的风化作用比较强.     

Distal partial trisomy 1q: report of two cases and a review of the literature

We report on two cases with partial trisomy 1q syndrome. One case was a mid-trimester fetus with multiple malformations that was prenatally diagnosed with a de novo distal partial trisomy 1q. Prenatal ultrasound at 24th gestational week demonstrated the presence of cleft lip and palate, increased biparietal diameter and decreased abdominal circumference. Cytogenetic analysis (GTG banding) and subsequent fluorescence in situ hybridization (FISH) using whole chromosome paint 1 and multicolor banding (MCB) demonstrated an aberrant karyotype 46,XY,dup(1)(q31q43∼44). The second case was a newborn male infant with multiple congenital malformations. He had a derivative chromosome 18 as a result of a maternal insertion involving chromosomes 1 and 18. Further analyses including MCB showed his karyotype as 46,XY,ins(18;1)(q22;q23q31.1∼32). The present cases and a review of the literature suggest that partial trisomy of the long arm of chromosome 1 is a distinct clinical entity. Copyright © 2007 John Wiley & Sons, Ltd.