Prenatal diagnosis of spinal muscular atrophy in Russia

Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.     

The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening

A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.     

First-trimester prenatal diagnosis of aspartylglucosaminuria

Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.     

The influence of source and timing of nitrogen fertilizers on yield and nitrogen use efficiency of four sweet potato cultivars

Nitrogen (N) availability is a very important determinant of crop yield. It is also one of the most expensive inputs in crop production. Thus, the efficient management of N by farmers with limited resource is a very important part of successful soil and crop management system. A field study was conducted on a Norfolk sandy loam soil at the George Washington Carver Agricultural Experiment Station, Tuskegee, AL, to evaluate the influence of fertilizer source and timing on the yield of four sweet potato [Ipomoea batatas (L.)] cultivars. Two N sources (urea, CO(NH₂)₂ and ammonium nitrate, NH₄NO₃), four sweet potato cultivars (‘Georgia Jet’, GA-Jet; ‘TU-82-155’, TU-155; ‘TU-1892’; and ‘Rojo Blanco’, Rojo-Bl) and three times (zero, single, and split applications) were used in a factorial designed experiment. Plants were harvested after 80 and 120 days and total and marketable yields determined. Nitrogen recovery efficiency, yield efficiency and physiological efficiency were also determined. Total and marketable yields of early maturing cultivars were significantly higher than of late maturing cultivars (P<0.05). The single application of N resulted in significantly higher yield in storage roots than split application (P<0.05). Physiological efficiency values were highly correlated with total marketable yields. Recovery rates increased with time. Late maturing cultivars tended to have higher N recovery and physiological efficiency than early maturing cultivars. These results suggest that cultivar maturity group should play an important part in N fertilization recommendations for sweet potato.