电离辐射对人类染色体的影响

通过对２６例静电加速器工作者染色体的观测，研究电离辐射引起的人类染色体畸变。效应与辐射剂量相关，畸变的类型和频率反映细胞损伤程度。     

Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46, XX/47, XX,+mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 a-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.     

Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures

Cultures of a chorion biopsy taken from a pregnancy at risk of Bloom's syndrome revealed the high sister chromatid exchange frequency diagnostic of this rare disorder. To obtain the result, cultures were grown under standard conditions, with the addition of 10μM 5′;-bromodeoxyuridine for the final 48 h of incubation. This result demonstrates the feasibility of early prenatal diagnosis of Bloom's syndrome.     

Early amniocentesis: Experience of 222 consecutive patients, 1987–1988

Early amniocentesis from 9 to 14 weeks' gestation provides a safe and accurate method of prenatal diagnosis of cytogenetic and biochemical disorders. There was a 100 per cent success rate in culturing the amniotic cells from 222 samples obtained between 9 and 14 weeks' gestation. Follow-up of the patients to delivery revealed an abortion rate of 1·4 per cent. Among the 207 live- and stillborn infants, only one had a congenital abnormality (bilateral talipes equino-varus) and no infant had respiratory distress syndrome or pneumonia. Eleven pregnancies were terminated following the detection of a chromosomal, biochemical, or congenital abnormality (5·0 per cent). However, before the procedure of early amniocentesis becomes routine clinical practice, it requires appraisal by a randomized clinical trial.     

Cytogenetic analysis of 1375 amniotic fluid specimens from pregnancies with gestational age less than 14 weeks

Our laboratory has received 1375 early amniotic fluid (EA) specimens during the past 5-year period for cytogenetics analysis. The gestational ages of the EA specimens were less than 14 weeks as estimated by ultrasound. The average volume of specimen received was 16 ml. Specimens were typically received in two collection tubes and cultured in Chang A and in supplemented MEM media using the in situ technique. Of the 1375 EA specimens received, 1356 were successfully cultured and yielded results. Abnormal results were found in 67 (4.9 per cent) of the cases. Nineteen specimens (1.4 per cent) failed to yield a result. The mean turn-around time (TAT) for all EA specimens was 8.28 days. In 1991, the average TAT for the EA specimens was 8.00 days compared with a TAT of 6.59 days for all specimens received over 14 weeks gestational age. The number of EA specimens received has increased from 1.5 per month in 1986 to 57 per month in 1991. In summary, our experience with EA specimens for cytogenetic analysis has demonstrated that the success rate is 98.6 per cent and that an increasing number of obstetricians are performing early amniocentesis as they seek to provide their patients with earlier results and an alternative to chorionic villus sampling.     

Prenatal diagnosis of ring chromosome 6

An amniocentesis was performed on a gravida 1, para 0 23-year-old female because of high maternal serum alpha-fetoprotein and nuchal thickening/cystic mass apparent on the fetal ultrasound. Detailed ultrasound examination revealed multiple anomalies including brain abnormalities. The fetus was found to have a mosaic female karyotype: 45,XX, - 6/46,XX,r(6) (p25q27) (62 per cent:38 per cent). This is the first report of a prenatally diagnosed case of ring chromosome 6.     

Prenatal diagnosis of 46, XX/47, XXY mosaicism: A case report

A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remarkable findings except hypospadia. Histology of both gonads showed testicular tissue without evidence of ovarian components.     

保护层开采工作面采空区瓦斯分层治理

为实现保护层开采工作面生产过程中瓦斯不超限,在分析工作面瓦斯来源的基础上,提出了保护层开采工作面竖向分层治理瓦斯的思路。根据相似模拟结果,分析了采空区瓦斯流动范围和流动范围内孔隙率、风阻分布特征。采用数值模拟分析了Y型通风、Y型通风+采空区埋管及Y型通风+采空区埋管+高抽巷+高位钻场3种瓦斯治理方式下采空区瓦斯体积分数场,结果表明:采空区瓦斯体积分数在竖直方向和水平方向均具有典型的递变特征,距工作面越远,距煤层越高,瓦斯体积分数越大;合适位置的煤层顶板高抽巷对抽采来自上邻近层的瓦斯具有较好的效果,试验条件下高抽巷抽采瓦斯量达到了总量的36.4%~63.6%;沿充填墙的采空区埋管不能完全拦截下层采空区进入沿空巷的采空区瓦斯,随沿空巷长度增加,瓦斯体积分数增大,建议沿空巷长度控制在250 m范围内。