DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.     

Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.     

Rare non-mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis

This paper reports eight cases of non-mosaic, rare, and typically lethal trisomies diagnosed in chorionic villi and not confirmed by amniocentesis. Four cases were 47,XX, + 16; two cases were 47,XX, +2; one was 47,XX, + 12; and one was 47,XY, +7. There have been no known complications in any of these gestations. These eight cases were found in a series of approximately 12 000 samples processed in our laboratory (0.07 per cent). We conclude that (1) rare non-mosaic trisomy not reflecting the fetal condition is an occasional source of diagnostic ambiguity in chorionic villus sampling; and (2) when encountered, a follow-up amniocentesis should be recommended to the patient to confirm or rule out the abnormality. We propose the term ‘confined placental abnormality’ to describe non-mosaic trisomies and other related abnormalities found only in chorionic tissue.     

Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

Continuous subcutaneous insulin infusion (CSII) in pregnant diabetic patients

The efficacy of the insulin infusion pump (CSII) in pregnancy was examined in 12 diabetic patients and compared with intermittent insulin therapy (IIT). In patients poorly controlled on IIT constant and rapid equilibrium was achieved with CSII (mean of glucose levels: CSII versus IIT=84 versus 137 mg/dl; S.D. = 36 versus 63 mg/dl; mean amplitude of glycemic excursion (MAGE)=65 versus 112 mg/dl. In patients well controlled on IIT, CSII led to a reduction in the variation of glucose excursions (S.D.= 29 versus 36 mg/dl; MAGE=48 versus 76 mg/dl). CSII generally produced a reduction of 20–37 per cent of daily insulin dose (in three cases there was an increase of dose with the achievement of glycemic control). Furthermore in CSII treated-patients amniotic glucose, insulin and C-peptide concentrations werefound tobeinthenormalrange(22.1±10.1 mg/dl; 5.2±2.7μ/ml; 1.25±0.71 ng/ml, respectively). All infants were horn at or near-term, had no macrosomia or neonatal problems. It is concluded that CSII is a highly efficient way to achieve normal glucose levels in pregnancy, not only in type I, hut also in type II or gestational diabetes.     

近期和长远时段内北极生态系统功能受到的影响

长期以来,就营养物质和碳循环而言,北极生态系统降低了初级生产力；能量,水和温室气体交换的水平已引起了局部和区域性的小幅度降温.大气CO2中的碳沉积在广袤而寒冷的有机土壤中,冰雪覆盖的低矮植被产生高的反射率,都影响了局部气候.然而,北极生态系统功能的许多方面都对气候变化及其产生的生物多样性影响敏感.当前的北极气候导致了低的有机物质分解速率,因此,尽管有机物和元素输入量较低,但北极生态系统还是趋向于积累有机物和元素,土壤中氮和磷等可利用元素结果成为促进碳固定以及生物量和有机物进一步积累的关键性限制因素.气候变暖可能增加特别是土壤中的碳和元素的周转,起初可能导致元素的丢失,但最后会慢慢的恢复.在北极生态系统中,单个物种和物种多样性已经明显地影响了元素的输入和滞留,另一方面,从长远来看,尽管CO2和紫外线增加对植物组织化学、分解和氮固定的影响可能变得重要,但对整个生态系统来说,影响可能很小.碳循环的示踪气体主要形式是CO2和CH4,大多数碳以CO2的形式损失,这些CO2是由植物和土壤生物产生.来自潮湿苔原生态系统以CH4形式释放的碳大约是CO2形式的5％,而且在没有任何其他变化的情况下,对变暖作出响应.冬天过程和植物类型也影响CH4释放和能量在生物圈和大气之间的交换,因为反射率从冬末到夏天存在很大的变化,在冬末,雪反射了入射的大部分光线,在夏天,生态系统吸收了入射的大部分光线,所以在所有的陆地生态系统中,北极生态系统在能量交换方面表现出巨大的季节性变化.植被深刻地影响北极生态系统水和能量交换.在冰雪覆盖期间,反射率从苔原、森林苔原、落叶林、常绿林依次降低.灌木和树增加了雪的深度,反过来又使冬天的土壤温度增加,因此,由气候变化而引起的未来植被方面的变化很可能深远地改变区域的气候.     

Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.     

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.